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Name

Human General

#2111

Species

Homo sapiens

# Genes

429

# Serial Genes

Description

Maps cell types and biological pathways across multiple human tissues.

Genes & Annotations

Reactome is a database of signaling and metabolic molecules organized into heirarchical pathways and relationships. Here we show the high level pathways, except 'Disease'. You can click on the pathway to see the full heirarchy and which levels are impacted by genes in the panel.

Annotation	Genes
ABC-family proteins mediated transport Pathway Hierarchies & Genes ABC-family proteins mediated transport (2 genes) Transport of small molecules ABC-family proteins mediated transport 2 genes	CFTR Gene Information Basic Information Ensembl ID: ENSG00000001626 Description: CF transmembrane conductance regulator [Source:HGNC Symbol;Acc:HGNC:1884] Location: 7:117287120-117715971 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stem cell enterocyte epithelial cell progenitor cell ionocyte tuft cell monocyte hepatocyte Other: Macroautophagy Membrane Trafficking ABC-family proteins mediated transport DERL3 Gene Information Basic Information Ensembl ID: ENSG00000099958 Description: derlin 3 [Source:HGNC Symbol;Acc:HGNC:14236] Location: 22:23834503-23839128 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell Naive B cell plasma cell plasmablast antigen presenting cell Other: ABC transporter disorders ABC-family proteins mediated transport
ATP-dependent chromatin remodelers Pathway Hierarchies & Genes Formation of the embryonic stem cell BAF (esBAF) complex (1 genes) Chromatin organization ATP-dependent chromatin remodelers SWI/SNF chromatin remodelers Formation of the embryonic stem cell BAF (esBAF) complex 1 genes	BCL11B Gene Information Basic Information Ensembl ID: ENSG00000127152 Description: BCL11 transcription factor B [Source:HGNC Symbol;Acc:HGNC:13222] Location: 14:99169287-99272197 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell neuron natural killer cell CD8+ T cell developing T cell CD4+ T cell T cell projection neuron excitatory neuron specified double negative thymocyte thymocyte Other: ATP-dependent chromatin remodelers
Activation of HOX genes during differentiation Pathway Hierarchies & Genes Activation of anterior HOX genes in hindbrain development during early embryogenesis (1 genes) Developmental Biology Activation of HOX genes during differentiation Activation of anterior HOX genes in hindbrain development during early embryogenesis 1 genes	MAFB Gene Information Basic Information Ensembl ID: ENSG00000204103 Description: MAF bZIP transcription factor B [Source:HGNC Symbol;Acc:HGNC:6408] Location: 20:40685848-40689236 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: macrophage dendritic cell phagocyte epithelial cell monocyte antigen presenting cell podocyte neural crest cell Other: Activation of HOX genes during differentiation
Adaptive Immune System Pathway Hierarchies & Genes CD28 dependent PI3K/Akt signaling (2 genes) Immune System Adaptive Immune System TCR signaling Downstream TCR signaling Regulation of T cell activation by CD28 family Co-stimulation by CD28 1 genes CD28 dependent PI3K/Akt signaling 1 genes Co-inhibition by PD-1 (21 genes) Immune System Adaptive Immune System Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell 18 genes TCR signaling Downstream TCR signaling 1 genes Regulation of T cell activation by CD28 family Co-inhibition by PD-1 2 genes CD28 dependent PI3K/Akt signaling (2 genes) Immune System Adaptive Immune System Regulation of T cell activation by CD28 family Co-stimulation by CD28 CD28 dependent PI3K/Akt signaling 2 genes Cross-presentation of particulate exogenous antigens (phagosomes) (1 genes) Immune System Adaptive Immune System Class I MHC mediated antigen processing & presentation Antigen processing-Cross presentation Cross-presentation of particulate exogenous antigens (phagosomes) 1 genes Cross-presentation of soluble exogenous antigens (endosomes) (1 genes) Immune System Adaptive Immune System Class I MHC mediated antigen processing & presentation Antigen processing-Cross presentation Cross-presentation of soluble exogenous antigens (endosomes) 1 genes ER-Phagosome pathway (1 genes) Immune System Adaptive Immune System Class I MHC mediated antigen processing & presentation Antigen processing-Cross presentation ER-Phagosome pathway 1 genes Antigen processing: Ubiquitination & Proteasome degradation (1 genes) Immune System Adaptive Immune System Class I MHC mediated antigen processing & presentation Antigen processing: Ubiquitination & Proteasome degradation 1 genes CD22 mediated BCR regulation (1 genes) Immune System Adaptive Immune System Signaling by the B Cell Receptor (BCR) CD22 mediated BCR regulation 1 genes Co-inhibition by PD-1 (1 genes) Immune System Adaptive Immune System Regulation of T cell activation by CD28 family Co-inhibition by PD-1 1 genes Co-stimulation by CD28 (2 genes) Immune System Adaptive Immune System Regulation of T cell activation by CD28 family Co-stimulation by CD28 2 genes Butyrophilin (BTN) family interactions (1 genes) Immune System Adaptive Immune System Butyrophilin (BTN) family interactions 1 genes MHC class II antigen presentation (3 genes) Immune System Adaptive Immune System MHC class II antigen presentation 3 genes	BTNL9 Gene Information Basic Information Ensembl ID: ENSG00000165810 Description: butyrophilin like 9 [Source:HGNC Symbol;Acc:HGNC:24176] Location: 5:181040225-181061521 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte stromal cell Other: Adaptive Immune System CD14 Gene Information Basic Information Ensembl ID: ENSG00000170458 Description: CD14 molecule [Source:HGNC Symbol;Acc:HGNC:1628] Location: 5:140631728-140633700 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell macrophage dendritic cell phagocyte myeloid cell antigen presenting cell monocyte Other: Apoptosis Adaptive Immune System Innate Immune System CD19 Gene Information Basic Information Ensembl ID: ENSG00000177455 Description: CD19 molecule [Source:HGNC Symbol;Acc:HGNC:1633] Location: 16:28931965-28939342 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: Naive B cell Follicular B cell Regulatory plasma cell cancer cell follicular cell plasmablast memory B cell fibroblast Other: Adaptive Immune System Innate Immune System Intracellular signaling by second messengers CD1A Gene Information Basic Information Ensembl ID: ENSG00000158477 Description: CD1a molecule [Source:HGNC Symbol;Acc:HGNC:1634] Location: 1:158254424-158258269 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell developing T cell monocyte Other: Adaptive Immune System CD1C Gene Information Basic Information Ensembl ID: ENSG00000158481 Description: CD1c molecule [Source:HGNC Symbol;Acc:HGNC:1636] Location: 1:158289923-158294774 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell T cell memory B cell marginal B cell Other: Adaptive Immune System CD200 Gene Information Basic Information Ensembl ID: ENSG00000091972 Description: CD200 molecule [Source:HGNC Symbol;Acc:HGNC:7203] Location: 3:112332235-112363181 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell CD4+ T cell endocrine cell stem cell Other: Adaptive Immune System CD247 Gene Information Basic Information Ensembl ID: ENSG00000198821 Description: CD247 molecule [Source:HGNC Symbol;Acc:HGNC:1677] Location: 1:167425027-167518640 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell natural killer cell developing T cell innate lymphoid cell lymphocyte Other: Adaptive Immune System Innate Immune System Parasitic Infection Pathways CD28 Gene Information Basic Information Ensembl ID: ENSG00000178562 Description: CD28 molecule [Source:HGNC Symbol;Acc:HGNC:1653] Location: 2:203706517-203739756 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell developing T cell Regulatory T cell CD8+ T cell CD4+ T cell T cell Specialized T cell Other: Adaptive Immune System Intracellular signaling by second messengers PI3K/AKT Signaling in Cancer CD34 Gene Information Basic Information Ensembl ID: ENSG00000174059 Description: CD34 molecule [Source:HGNC Symbol;Acc:HGNC:1662] Location: 1:207880972-207911402 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron hematopoietic stem cell epithelial cell perineurial cell telocyte Other: Adaptive Immune System CD36 Gene Information Basic Information Ensembl ID: ENSG00000135218 Description: CD36 molecule (CD36 blood group) [Source:HGNC Symbol;Acc:HGNC:1663] Location: 7:80369575-80679277 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell phagocyte monocyte adipocyte erythrocyte erythroid lineage cell macrophage ependymal cell pericyte Other: Cytokine Signaling in Immune system Adaptive Immune System Integration of energy metabolism CD3E Gene Information Basic Information Ensembl ID: ENSG00000198851 Description: CD3 epsilon subunit of T-cell receptor complex [Source:HGNC Symbol;Acc:HGNC:1674] Location: 11:118304730-118316175 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell natural killer cell CD8+ T cell developing T cell lymphocyte CD4+ T cell T cell Other: Adaptive Immune System CD4 Gene Information Basic Information Ensembl ID: ENSG00000010610 Description: CD4 molecule [Source:HGNC Symbol;Acc:HGNC:1678] Location: 12:6786858-6820799 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell dendritic cell phagocyte CD4+ T cell antigen presenting cell hematopoietic cell monocyte macrophage developing T cell Regulatory T cell T cell memory T cell Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System CD40 Gene Information Basic Information Ensembl ID: ENSG00000101017 Description: CD40 molecule [Source:HGNC Symbol;Acc:HGNC:11919] Location: 20:46118271-46129863 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: Naive B cell dendritic cell Follicular B cell memory B cell macrophage Other: Cytokine Signaling in Immune system Adaptive Immune System CD79B Gene Information Basic Information Ensembl ID: ENSG00000007312 Description: CD79b molecule [Source:HGNC Symbol;Acc:HGNC:1699] Location: 17:63928738-63932336 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: Naive B cell lymphoid progenitor cell Follicular B cell Other: Adaptive Immune System Viral Infection Pathways CD86 Gene Information Basic Information Ensembl ID: ENSG00000114013 Description: CD86 molecule [Source:HGNC Symbol;Acc:HGNC:1705] Location: 3:122055362-122121139 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell macrophage phagocyte monocyte immune cell Other: Cytokine Signaling in Immune system Adaptive Immune System Intracellular signaling by second messengers CD8A Gene Information Basic Information Ensembl ID: ENSG00000153563 Description: CD8 subunit alpha [Source:HGNC Symbol;Acc:HGNC:1706] Location: 2:86784610-86808396 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell natural killer cell CD8+ T cell developing T cell T cell Specialized T cell lymphocyte cytotoxic lymphocyte Other: Adaptive Immune System CDH1 Gene Information Basic Information Ensembl ID: ENSG00000039068 Description: cadherin 1 [Source:HGNC Symbol;Acc:HGNC:1748] Location: 16:68737292-68835537 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: goblet cell epithelial cell pneumocyte stem cell secretory cell tuft cell paneth cell ciliated cell neuroendocrine cell brush cell basal cell serous cell deuterosomal cell club Other: Apoptosis Adaptive Immune System Degradation of the extracellular matrix CTLA4 Gene Information Basic Information Ensembl ID: ENSG00000163599 Description: cytotoxic T-lymphocyte associated protein 4 [Source:HGNC Symbol;Acc:HGNC:2505] Location: 2:203853888-203873965 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: developing T cell Regulatory T cell CD4+ T cell CD8+ T cell immune cell Other: Adaptive Immune System RNA Polymerase II Transcription HLA-DMA Gene Information Basic Information Ensembl ID: ENSG00000204257 Description: major histocompatibility complex%2C class II%2C DM alpha [Source:HGNC Symbol;Acc:HGNC:4934] Location: 6:32948613-32969094 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: Naive B cell dendritic cell macrophage phagocyte microglia Follicular B cell antigen presenting cell monocyte Other: Adaptive Immune System HLA-DMB Gene Information Basic Information Ensembl ID: ENSG00000242574 Description: major histocompatibility complex%2C class II%2C DM beta [Source:HGNC Symbol;Acc:HGNC:4935] Location: 6:32934629-32941028 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell macrophage Naive B cell phagocyte Follicular B cell monocyte Other: Adaptive Immune System ICAM1 Gene Information Basic Information Ensembl ID: ENSG00000090339 Description: intercellular adhesion molecule 1 [Source:HGNC Symbol;Acc:HGNC:5344] Location: 19:10271093-10286615 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell endothelial cell natural killer cell dendritic cell phagocyte stromal cell pancreatic cell granulocyte macrophage kupffer cell fibroblast Other: Cytokine Signaling in Immune system Adaptive Immune System Integrin cell surface interactions ITGA4 Gene Information Basic Information Ensembl ID: ENSG00000115232 Description: integrin subunit alpha 4 [Source:HGNC Symbol;Acc:HGNC:6140] Location: 2:181457202-181538940 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: natural killer cell developing T cell Naive B cell Specialized T cell mast cell lymphoid progenitor cell CD8+ T cell erythroid lineage cell T cell memory T cell progenitor cell erythroblast projection neuron Other: Cell surface interactions at the vascular wall Integrin cell surface interactions Adaptive Immune System ITGAL Gene Information Basic Information Ensembl ID: ENSG00000005844 Description: integrin subunit alpha L [Source:HGNC Symbol;Acc:HGNC:6148] Location: 16:30472658-30523567 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell developing T cell T cell Specialized T cell CD4+ T cell lymphoid progenitor cell CD8+ T cell natural killer cell innate lymphoid cell leukocyte monocyte Other: Adaptive Immune System Innate Immune System Cell surface interactions at the vascular wall KLHL41 Gene Information Basic Information Ensembl ID: ENSG00000239474 Description: kelch like family member 41 [Source:HGNC Symbol;Acc:HGNC:16905] Location: 2:169509702-169526258 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: skeletal muscle cell muscle cell Other: Adaptive Immune System Post-translational protein modification KLRD1 Gene Information Basic Information Ensembl ID: ENSG00000134539 Description: killer cell lectin like receptor D1 [Source:HGNC Symbol;Acc:HGNC:6378] Location: 12:10226058-10329608 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: natural killer cell CD8+ T cell developing T cell Specialized T cell T cell Regulatory T cell Other: Adaptive Immune System Innate Immune System KLRF1 Gene Information Basic Information Ensembl ID: ENSG00000150045 Description: killer cell lectin like receptor F1 [Source:HGNC Symbol;Acc:HGNC:13342] Location: 12:9827481-9845007 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: natural killer cell T cell cytotoxic natural killer cell Other: Adaptive Immune System LAG3 Gene Information Basic Information Ensembl ID: ENSG00000089692 Description: lymphocyte activating 3 [Source:HGNC Symbol;Acc:HGNC:6476] Location: 12:6772512-6778455 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: CD8+ T cell developing T cell Regulatory T cell T cell Specialized T cell lymphocyte Other: Adaptive Immune System LCK Gene Information Basic Information Ensembl ID: ENSG00000182866 Description: LCK proto-oncogene%2C Src family tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:6524] Location: 1:32251244-32286165 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell natural killer cell CD8+ T cell developing T cell T cell lymphocyte Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System LILRA4 Gene Information Basic Information Ensembl ID: ENSG00000239961 Description: leukocyte immunoglobulin like receptor A4 [Source:HGNC Symbol;Acc:HGNC:15503] Location: 19:54333185-54339162 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell bone cell antigen presenting cell plasma cell Other: Adaptive Immune System MRC1 Gene Information Basic Information Ensembl ID: ENSG00000260314 Description: mannose receptor C-type 1 [Source:HGNC Symbol;Acc:HGNC:7228] Location: 10:17809348-17911164 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell macrophage dendritic cell phagocyte myeloid cell antigen presenting cell hematopoietic cell microglia Other: Adaptive Immune System Bacterial Infection Pathways NPDC1 Gene Information Basic Information Ensembl ID: ENSG00000107281 Description: neural proliferation%2C differentiation and control 1 [Source:HGNC Symbol;Acc:HGNC:7899] Location: 9:137039463-137046179 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell endocrine cell pancreatic cell fibroblast secretory cell Other: Adaptive Immune System PDCD1 Gene Information Basic Information Ensembl ID: ENSG00000188389 Description: programmed cell death 1 [Source:HGNC Symbol;Acc:HGNC:8760] Location: 2:241849884-241858894 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: developing T cell CD4+ T cell CD8+ T cell T cell memory T cell lymphocyte progenitor cell T helper cell Other: Adaptive Immune System Viral Infection Pathways PPP2R5C Gene Information Basic Information Ensembl ID: ENSG00000078304 Description: protein phosphatase 2 regulatory subunit B'gamma [Source:HGNC Symbol;Acc:HGNC:9311] Location: 14:101761709-101927989 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell natural killer cell CD8+ T cell developing T cell Specialized T cell CD4+ T cell T cell Other: Adaptive Immune System Signaling by WNT Platelet homeostasis SELL Gene Information Basic Information Ensembl ID: ENSG00000188404 Description: selectin L [Source:HGNC Symbol;Acc:HGNC:10720] Location: 1:169690665-169711702 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell memory T cell Regulatory T cell Naive B cell T cell dendritic cell lymphoid progenitor cell granulocyte Follicular B cell antigen presenting cell memory B cell monocyte innate lymphoid cell developing T cell neutrophil Other: Adaptive Immune System Innate Immune System Cell surface interactions at the vascular wall SIGLEC6 Gene Information Basic Information Ensembl ID: ENSG00000105492 Description: sialic acid binding Ig like lectin 6 [Source:HGNC Symbol;Acc:HGNC:10875] Location: 19:51517819-51531856 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: mast cell Other: Adaptive Immune System TREM2 Gene Information Basic Information Ensembl ID: ENSG00000095970 Description: triggering receptor expressed on myeloid cells 2 [Source:HGNC Symbol;Acc:HGNC:17761] Location: 6:41158506-41163186 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron macrophage dendritic cell phagocyte monocyte antigen presenting cell microglia Other: Adaptive Immune System Innate Immune System Nervous system development VCAM1 Gene Information Basic Information Ensembl ID: ENSG00000162692 Description: vascular cell adhesion molecule 1 [Source:HGNC Symbol;Acc:HGNC:12663] Location: 1:100719742-100739045 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell stromal cell monocyte stem cell fibroblast Specialized T cell epithelial cell dendritic cell macrophage adipocyte mesenchymal stem cell cardiomyocyte Other: Cytokine Signaling in Immune system Adaptive Immune System Integrin cell surface interactions
Adipogenesis Pathway Hierarchies & Genes Transcriptional regulation of brown and beige adipocyte differentiation by EBF2 (3 genes) Developmental Biology Adipogenesis Transcriptional regulation of white adipocyte differentiation 2 genes Transcriptional regulation of brown and beige adipocyte differentiation Transcriptional regulation of brown and beige adipocyte differentiation by EBF2 1 genes	CD36 Gene Information Basic Information Ensembl ID: ENSG00000135218 Description: CD36 molecule (CD36 blood group) [Source:HGNC Symbol;Acc:HGNC:1663] Location: 7:80369575-80679277 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell phagocyte monocyte adipocyte erythrocyte erythroid lineage cell macrophage ependymal cell pericyte Other: Cytokine Signaling in Immune system Adaptive Immune System Integration of energy metabolism LEP Gene Information Basic Information Ensembl ID: ENSG00000174697 Description: leptin [Source:HGNC Symbol;Acc:HGNC:6553] Location: 7:128241278-128257629 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: adipocyte Other: Signaling by Leptin Peptide hormone metabolism Adipogenesis PPARG Gene Information Basic Information Ensembl ID: ENSG00000132170 Description: peroxisome proliferator activated receptor gamma [Source:HGNC Symbol;Acc:HGNC:9236] Location: 3:12287368-12434356 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte epithelial cell stem cell phagocyte adipocyte macrophage tuft cell Other: Epigenetic regulation of gene expression Metabolism of lipids Post-translational protein modification
Amyloid fiber formation Pathway Hierarchies & Genes Amyloid fiber formation (4 genes) Metabolism of proteins Amyloid fiber formation 4 genes	APP Gene Information Basic Information Ensembl ID: ENSG00000142192 Description: amyloid beta precursor protein [Source:HGNC Symbol;Acc:HGNC:620] Location: 21:25880535-26171128 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron interneuron dendritic cell epithelial cell stem cell fibroblast Other: Cytokine Signaling in Immune system Innate Immune System Membrane Trafficking HSPG2 Gene Information Basic Information Ensembl ID: ENSG00000142798 Description: heparan sulfate proteoglycan 2 [Source:HGNC Symbol;Acc:HGNC:5273] Location: 1:21822244-21937310 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron glial cell adipocyte Other: Degradation of the extracellular matrix Metabolism of vitamins and cofactors Integrin cell surface interactions LTF Gene Information Basic Information Ensembl ID: ENSG00000012223 Description: lactotransferrin [Source:HGNC Symbol;Acc:HGNC:6720] Location: 3:46435645-46485234 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell epithelial cell goblet cell myeloid cell secretory cell neutrophil acinar cell endothelial cell myeloid derived suppressor cell Other: Bacterial Infection Pathways Innate Immune System Amyloid fiber formation TGFBI Gene Information Basic Information Ensembl ID: ENSG00000120708 Description: transforming growth factor beta induced [Source:HGNC Symbol;Acc:HGNC:11771] Location: 5:136028988-136063818 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pericyte macrophage fibroblast dendritic cell phagocyte stem cell schwann cell antigen presenting cell monocyte chondrocyte Other: Amyloid fiber formation
Apoptosis Pathway Hierarchies & Genes Activation of BAD and translocation to mitochondria (1 genes) Programmed Cell Death Apoptosis Intrinsic Pathway for Apoptosis Activation of BH3-only proteins Activation of BAD and translocation to mitochondria 1 genes Activation of PUMA and translocation to mitochondria (1 genes) Programmed Cell Death Apoptosis Intrinsic Pathway for Apoptosis Activation of BH3-only proteins Activation of PUMA and translocation to mitochondria 1 genes Apoptotic cleavage of cell adhesion proteins (3 genes) Programmed Cell Death Apoptosis Apoptotic execution phase Apoptotic cleavage of cellular proteins Apoptotic cleavage of cell adhesion proteins 3 genes Regulation by c-FLIP (1 genes) Programmed Cell Death Apoptosis Caspase activation via extrinsic apoptotic signalling pathway Caspase activation via Death Receptors in the presence of ligand Regulation by c-FLIP 1 genes Apoptotic cleavage of cellular proteins (1 genes) Programmed Cell Death Apoptosis Apoptotic execution phase Apoptotic cleavage of cellular proteins 1 genes Caspase activation via Death Receptors in the presence of ligand (1 genes) Programmed Cell Death Apoptosis Caspase activation via extrinsic apoptotic signalling pathway Caspase activation via Death Receptors in the presence of ligand 1 genes	BMX Gene Information Basic Information Ensembl ID: ENSG00000102010 Description: BMX non-receptor tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:1079] Location: X:15464246-15556529 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: tuft cell endocardial cell endothelial cell Other: Apoptosis Metabolism of lipids CD14 Gene Information Basic Information Ensembl ID: ENSG00000170458 Description: CD14 molecule [Source:HGNC Symbol;Acc:HGNC:1628] Location: 5:140631728-140633700 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell macrophage dendritic cell phagocyte myeloid cell antigen presenting cell monocyte Other: Apoptosis Adaptive Immune System Innate Immune System CDH1 Gene Information Basic Information Ensembl ID: ENSG00000039068 Description: cadherin 1 [Source:HGNC Symbol;Acc:HGNC:1748] Location: 16:68737292-68835537 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: goblet cell epithelial cell pneumocyte stem cell secretory cell tuft cell paneth cell ciliated cell neuroendocrine cell brush cell basal cell serous cell deuterosomal cell club Other: Apoptosis Adaptive Immune System Degradation of the extracellular matrix CTNNB1 Gene Information Basic Information Ensembl ID: ENSG00000168036 Description: catenin beta 1 [Source:HGNC Symbol;Acc:HGNC:2514] Location: 3:41194741-41260096 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell endothelial cell epithelial cell stem cell phagocyte adrenal cortical cell fibroblast monocyte Specialized T cell melanocyte M cell Other: Apoptosis Innate Immune System Signaling by WNT DSP Gene Information Basic Information Ensembl ID: ENSG00000096696 Description: desmoplakin [Source:HGNC Symbol;Acc:HGNC:3052] Location: 6:7541326-7586717 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell neuron endocrine cell trophoblast cell enteroendocrine cell thymic epithelial cell stem cell Other: Signaling by Rho GTPases, Miro GTPases and RHOBTB3 Apoptosis Innate Immune System SFN Gene Information Basic Information Ensembl ID: ENSG00000175793 Description: stratifin [Source:HGNC Symbol;Acc:HGNC:10773] Location: 1:26863149-26864456 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Apoptosis Membrane Trafficking Cell Cycle Checkpoints TNFSF10 Gene Information Basic Information Ensembl ID: ENSG00000121858 Description: TNF superfamily member 10 [Source:HGNC Symbol;Acc:HGNC:11925] Location: 3:172505508-172523475 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell epithelial cell monocyte mast cell secretory cell Other: Apoptosis Regulated Necrosis Death Receptor Signaling TP63 Gene Information Basic Information Ensembl ID: ENSG00000073282 Description: tumor protein p63 [Source:HGNC Symbol;Acc:HGNC:15979] Location: 3:189631389-189897276 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell intermediate cell Other: Apoptosis Regulated Necrosis RNA Polymerase II Transcription
Aquaporin-mediated transport Pathway Hierarchies & Genes Passive transport by Aquaporins (6 genes) Transport of small molecules Aquaporin-mediated transport Vasopressin regulates renal water homeostasis via Aquaporins 3 genes Passive transport by Aquaporins 3 genes	AQP1 Gene Information Basic Information Ensembl ID: ENSG00000240583 Description: aquaporin 1 (Colton blood group) [Source:HGNC Symbol;Acc:HGNC:633] Location: 7:30911853-30925517 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell enteroendocrine cell fibroblast pneumocyte epithelial cell astrocyte Other: O2/CO2 exchange in erythrocytes Aquaporin-mediated transport Developmental Cell Lineages AQP2 Gene Information Basic Information Ensembl ID: ENSG00000167580 Description: aquaporin 2 [Source:HGNC Symbol;Acc:HGNC:634] Location: 12:49950737-49958878 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell kidney cell principal cell Other: Aquaporin-mediated transport AQP3 Gene Information Basic Information Ensembl ID: ENSG00000165272 Description: aquaporin 3 (Gill blood group) [Source:HGNC Symbol;Acc:HGNC:636] Location: 9:33441156-33447596 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell memory T cell developing T cell T cell pneumocyte stem cell pancreatic cell innate lymphoid cell monocyte Other: Aquaporin-mediated transport Developmental Cell Lineages GNB1 Gene Information Basic Information Ensembl ID: ENSG00000078369 Description: G protein subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:4396] Location: 1:1785285-1892292 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: photoreceptor cell monocyte memory B cell dendritic cell Other: Olfactory Signaling Pathway Protein folding Transmission across Chemical Synapses GNG11 Gene Information Basic Information Ensembl ID: ENSG00000127920 Description: G protein subunit gamma 11 [Source:HGNC Symbol;Acc:HGNC:4403] Location: 7:93921735-93928610 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell hematopoietic stem cell smooth muscle cell T cell megakaryocyte Other: Protein folding Transmission across Chemical Synapses Potassium Channels GNGT2 Gene Information Basic Information Ensembl ID: ENSG00000167083 Description: G protein subunit gamma transducin 2 [Source:HGNC Symbol;Acc:HGNC:4412] Location: 17:49202791-49210574 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Transmission across Chemical Synapses Potassium Channels Integration of energy metabolism
Aspirin ADME Pathway Hierarchies & Genes Aspirin ADME (1 genes) Drug ADME Aspirin ADME 1 genes	SLCO2B1 Gene Information Basic Information Ensembl ID: ENSG00000137491 Description: solute carrier organic anion transporter family member 2B1 [Source:HGNC Symbol;Acc:HGNC:10962] Location: 11:75100563-75206549 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: macrophage phagocyte monocyte microglia mast cell myeloid cell antigen presenting cell dendritic cell Other: Metabolism of porphyrins SLC-mediated transmembrane transport Aspirin ADME
Atorvastatin ADME Pathway Hierarchies & Genes Atorvastatin ADME (1 genes) Drug ADME Atorvastatin ADME 1 genes	SLCO2B1 Gene Information Basic Information Ensembl ID: ENSG00000137491 Description: solute carrier organic anion transporter family member 2B1 [Source:HGNC Symbol;Acc:HGNC:10962] Location: 11:75100563-75206549 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: macrophage phagocyte monocyte microglia mast cell myeloid cell antigen presenting cell dendritic cell Other: Metabolism of porphyrins SLC-mediated transmembrane transport Aspirin ADME
Binding and Uptake of Ligands by Scavenger Receptors Pathway Hierarchies & Genes Scavenging by Class A Receptors (3 genes) Vesicle-mediated transport Binding and Uptake of Ligands by Scavenger Receptors Scavenging by Class A Receptors 3 genes Scavenging by Class B Receptors (1 genes) Vesicle-mediated transport Binding and Uptake of Ligands by Scavenger Receptors Scavenging by Class B Receptors 1 genes Scavenging of heme from plasma (1 genes) Vesicle-mediated transport Binding and Uptake of Ligands by Scavenger Receptors Scavenging of heme from plasma 1 genes	CD163 Gene Information Basic Information Ensembl ID: ENSG00000177575 Description: CD163 molecule [Source:HGNC Symbol;Acc:HGNC:1631] Location: 12:7470811-7503893 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell macrophage phagocyte monocyte myeloid cell antigen presenting cell hematopoietic cell lymphocyte Other: Parasitic Infection Pathways Binding and Uptake of Ligands by Scavenger Receptors CD36 Gene Information Basic Information Ensembl ID: ENSG00000135218 Description: CD36 molecule (CD36 blood group) [Source:HGNC Symbol;Acc:HGNC:1663] Location: 7:80369575-80679277 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell phagocyte monocyte adipocyte erythrocyte erythroid lineage cell macrophage ependymal cell pericyte Other: Cytokine Signaling in Immune system Adaptive Immune System Integration of energy metabolism COL4A1 Gene Information Basic Information Ensembl ID: ENSG00000187498 Description: collagen type IV alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2202] Location: 13:110148963-110307202 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte stem cell fibroblast stromal cell smooth muscle cell adipocyte melanocyte basal cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL4A2 Gene Information Basic Information Ensembl ID: ENSG00000134871 Description: collagen type IV alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2203] Location: 13:110305812-110513209 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte epithelial cell stem cell adipocyte fibroblast glial cell stromal cell smooth muscle cell melanocyte Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation MARCO Gene Information Basic Information Ensembl ID: ENSG00000019169 Description: macrophage receptor with collagenous structure [Source:HGNC Symbol;Acc:HGNC:6895] Location: 2:118942194-118994660 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: macrophage phagocyte monocyte antigen presenting cell leukocyte Other: Binding and Uptake of Ligands by Scavenger Receptors
Biological oxidations Pathway Hierarchies & Genes Aflatoxin activation and detoxification (1 genes) Metabolism Biological oxidations Aflatoxin activation and detoxification 1 genes	ACY3 Gene Information Basic Information Ensembl ID: ENSG00000132744 Description: aminoacylase 3 [Source:HGNC Symbol;Acc:HGNC:24104] Location: 11:67642555-67650730 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron epithelial cell dendritic cell progenitor progenitor cell Naive B cell Other: Biological oxidations
Cardiac conduction Pathway Hierarchies & Genes Ion homeostasis (1 genes) Muscle contraction Cardiac conduction Phase 0 - rapid depolarisation Ion homeostasis 1 genes Ion homeostasis (2 genes) Muscle contraction Cardiac conduction Ion homeostasis 2 genes Physiological factors (2 genes) Muscle contraction Cardiac conduction Physiological factors 2 genes	CAMK2B Gene Information Basic Information Ensembl ID: ENSG00000058404 Description: calcium/calmodulin dependent protein kinase II beta [Source:HGNC Symbol;Acc:HGNC:1461] Location: 7:44210019-44334577 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: interneuron neuron Other: Transmission across Chemical Synapses Cytokine Signaling in Immune system Cellular responses to stress MME Gene Information Basic Information Ensembl ID: ENSG00000196549 Description: membrane metalloendopeptidase [Source:HGNC Symbol;Acc:HGNC:7154] Location: 3:155024124-155183704 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell Naive B cell enterocyte epithelial cell stromal cell fibroblast lymphoid progenitor cell adipocyte Other: Innate Immune System Peptide hormone metabolism Cardiac conduction NOS1 Gene Information Basic Information Ensembl ID: ENSG00000089250 Description: nitric oxide synthase 1 [Source:HGNC Symbol;Acc:HGNC:7872] Location: 12:117208142-117452170 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Innate Immune System Platelet homeostasis Cardiac conduction SLC8A1 Gene Information Basic Information Ensembl ID: ENSG00000183023 Description: solute carrier family 8 member A1 [Source:HGNC Symbol;Acc:HGNC:11068] Location: 2:40097270-40611053 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Platelet homeostasis SLC-mediated transmembrane transport Cardiac conduction WWTR1 Gene Information Basic Information Ensembl ID: ENSG00000018408 Description: WW domain containing transcription regulator 1 [Source:HGNC Symbol;Acc:HGNC:24042] Location: 3:149517235-149736714 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell Other: Signaling by Hippo Cardiac conduction RNA Polymerase II Transcription
Cardiogenesis Pathway Hierarchies & Genes Cardiogenesis (4 genes) Developmental Biology Cardiogenesis 4 genes	CTNNB1 Gene Information Basic Information Ensembl ID: ENSG00000168036 Description: catenin beta 1 [Source:HGNC Symbol;Acc:HGNC:2514] Location: 3:41194741-41260096 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell endothelial cell epithelial cell stem cell phagocyte adrenal cortical cell fibroblast monocyte Specialized T cell melanocyte M cell Other: Apoptosis Innate Immune System Signaling by WNT EOMES Gene Information Basic Information Ensembl ID: ENSG00000163508 Description: eomesodermin [Source:HGNC Symbol;Acc:HGNC:3372] Location: 3:27715949-27722711 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: natural killer cell Specialized T cell CD8+ T cell T cell progenitor cell mesodermal cell brush cell Other: Transcriptional regulation of pluripotent stem cells Cardiogenesis Gastrulation HEY2 Gene Information Basic Information Ensembl ID: ENSG00000135547 Description: hes related family bHLH transcription factor with YRPW motif 2 [Source:HGNC Symbol;Acc:HGNC:4881] Location: 6:125747664-125761269 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: smooth muscle cell cardiomyocyte endothelial cell Other: Signaling by NOTCH RNA Polymerase II Transcription Cardiogenesis LEF1 Gene Information Basic Information Ensembl ID: ENSG00000138795 Description: lymphoid enhancer binding factor 1 [Source:HGNC Symbol;Acc:HGNC:6551] Location: 4:108047545-108168956 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell developing T cell T cell Regulatory T cell Naive B cell CD4+ T cell lymphoid progenitor cell innate lymphoid cell Other: Signaling by WNT RNA Polymerase II Transcription Transcriptional regulation of granulopoiesis
Cell Cycle Checkpoints Pathway Hierarchies & Genes Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal (1 genes) Cell Cycle Cell Cycle Checkpoints Mitotic Spindle Checkpoint Amplification of signal from the kinetochores Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal 1 genes Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex (2 genes) Cell Cycle Cell Cycle Checkpoints G2/M Checkpoints G2/M DNA damage checkpoint Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex 2 genes	CDK1 Gene Information Basic Information Ensembl ID: ENSG00000170312 Description: cyclin dependent kinase 1 [Source:HGNC Symbol;Acc:HGNC:1722] Location: 10:60778331-60794852 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: progenitor cell Other: Cytokine Signaling in Immune system Cilium Assembly MAPK family signaling cascades PPP2R5C Gene Information Basic Information Ensembl ID: ENSG00000078304 Description: protein phosphatase 2 regulatory subunit B'gamma [Source:HGNC Symbol;Acc:HGNC:9311] Location: 14:101761709-101927989 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell natural killer cell CD8+ T cell developing T cell Specialized T cell CD4+ T cell T cell Other: Adaptive Immune System Signaling by WNT Platelet homeostasis SFN Gene Information Basic Information Ensembl ID: ENSG00000175793 Description: stratifin [Source:HGNC Symbol;Acc:HGNC:10773] Location: 1:26863149-26864456 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Apoptosis Membrane Trafficking Cell Cycle Checkpoints
Cell Cycle, Mitotic Pathway Hierarchies & Genes Loss of Nlp from mitotic centrosomes (1 genes) Cell Cycle Cell Cycle, Mitotic Mitotic G1 phase and G1/S transition G1/S Transition E2F mediated regulation of DNA replication E2F-enabled inhibition of pre-replication complex formation M Phase Mitotic Metaphase and Anaphase Mitotic Anaphase Nuclear Envelope (NE) Reassembly Initiation of Nuclear Envelope (NE) Reformation Regulation of mitotic cell cycle APC/C-mediated degradation of cell cycle proteins Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins APC/C:Cdc20 mediated degradation of mitotic proteins APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint Cdc20:Phospho-APC/C mediated degradation of Cyclin A Mitotic G2-G2/M phases G2/M Transition Centrosome maturation Loss of proteins required for interphase microtubule organization from the centrosome Loss of Nlp from mitotic centrosomes 1 genes Cyclin A:Cdk2-associated events at S phase entry (1 genes) Cell Cycle Cell Cycle, Mitotic Mitotic G1 phase and G1/S transition G0 and Early G1 Transcription of E2F targets under negative control by DREAM complex S Phase Cyclin A:Cdk2-associated events at S phase entry 1 genes Separation of Sister Chromatids (1 genes) Cell Cycle Cell Cycle, Mitotic M Phase Mitotic Metaphase and Anaphase Mitotic Anaphase Separation of Sister Chromatids 1 genes	CDK1 Gene Information Basic Information Ensembl ID: ENSG00000170312 Description: cyclin dependent kinase 1 [Source:HGNC Symbol;Acc:HGNC:1722] Location: 10:60778331-60794852 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: progenitor cell Other: Cytokine Signaling in Immune system Cilium Assembly MAPK family signaling cascades MYC Gene Information Basic Information Ensembl ID: ENSG00000136997 Description: MYC proto-oncogene%2C bHLH transcription factor [Source:HGNC Symbol;Acc:HGNC:7553] Location: 8:127735434-127742951 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pericyte epithelial cell fibroblast stromal cell smooth muscle cell hematopoietic progenitor cell endothelial cell stem cell erythroblast muscle cell progenitor cell transient amplifying cell cancer stem cell B cell erythroid lineage cell Other: Cytokine Signaling in Immune system Signaling by NOTCH Signaling by WNT PPP2R5C Gene Information Basic Information Ensembl ID: ENSG00000078304 Description: protein phosphatase 2 regulatory subunit B'gamma [Source:HGNC Symbol;Acc:HGNC:9311] Location: 14:101761709-101927989 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell natural killer cell CD8+ T cell developing T cell Specialized T cell CD4+ T cell T cell Other: Adaptive Immune System Signaling by WNT Platelet homeostasis
Cell junction organization Pathway Hierarchies & Genes Degradation of CDH1 (1 genes) Cell-Cell communication Cell junction organization Cell-cell junction organization Adherens junctions interactions Regulation of Homotypic Cell-Cell Adhesion Regulation of Expression and Function of Type I Classical Cadherins Regulation of CDH1 Expression and Function Regulation of CDH1 Function Degradation of CDH1 1 genes Negative Regulation of CDH1 Gene Transcription (3 genes) Cell-Cell communication Cell junction organization Cell-cell junction organization Adherens junctions interactions Regulation of Homotypic Cell-Cell Adhesion Regulation of Expression and Function of Type I Classical Cadherins Regulation of CDH1 Expression and Function Regulation of CDH1 Gene Transcription Negative Regulation of CDH1 Gene Transcription 3 genes Regulation of CDH1 mRNA translation by microRNAs (1 genes) Cell-Cell communication Cell junction organization Cell-cell junction organization Adherens junctions interactions Regulation of Homotypic Cell-Cell Adhesion Regulation of Expression and Function of Type I Classical Cadherins Regulation of CDH1 Expression and Function Regulation of CDH1 mRNA translation by microRNAs 1 genes Regulation of CDH1 posttranslational processing and trafficking to plasma membrane (2 genes) Cell-Cell communication Cell junction organization Cell-cell junction organization Adherens junctions interactions Regulation of Homotypic Cell-Cell Adhesion Regulation of Expression and Function of Type I Classical Cadherins Regulation of CDH1 Expression and Function Regulation of CDH1 posttranslational processing and trafficking to plasma membrane 2 genes Regulation of CDH11 gene transcription (1 genes) Cell-Cell communication Cell junction organization Cell-cell junction organization Adherens junctions interactions Regulation of Homotypic Cell-Cell Adhesion Regulation of Expression and Function of Type II Classical Cadherins Regulation of CDH11 Expression and Function Regulation of CDH11 gene transcription 1 genes Regulation of CDH19 Expression and Function (1 genes) Cell-Cell communication Cell junction organization Cell-cell junction organization Adherens junctions interactions Regulation of Homotypic Cell-Cell Adhesion Regulation of Expression and Function of Type II Classical Cadherins Regulation of CDH19 Expression and Function 1 genes Adherens junctions interactions (1 genes) Cell-Cell communication Cell junction organization Cell-cell junction organization Adherens junctions interactions 1 genes Tight junction interactions (3 genes) Cell-Cell communication Cell junction organization Cell-cell junction organization Tight junction interactions 3 genes Type I hemidesmosome assembly (2 genes) Cell-Cell communication Cell junction organization Type I hemidesmosome assembly 2 genes	ANK3 Gene Information Basic Information Ensembl ID: ENSG00000151150 Description: ankyrin 3 [Source:HGNC Symbol;Acc:HGNC:494] Location: 10:60026298-60733490 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell neuron interneuron developing T cell enteroendocrine cell T cell Naive B cell trophoblast cell pneumocyte glial cell CD4+ T cell schwann cell Other: Membrane Trafficking Cell junction organization Post-translational protein modification CDH1 Gene Information Basic Information Ensembl ID: ENSG00000039068 Description: cadherin 1 [Source:HGNC Symbol;Acc:HGNC:1748] Location: 16:68737292-68835537 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: goblet cell epithelial cell pneumocyte stem cell secretory cell tuft cell paneth cell ciliated cell neuroendocrine cell brush cell basal cell serous cell deuterosomal cell club Other: Apoptosis Adaptive Immune System Degradation of the extracellular matrix CDH5 Gene Information Basic Information Ensembl ID: ENSG00000179776 Description: cadherin 5 [Source:HGNC Symbol;Acc:HGNC:1764] Location: 16:66366690-66404784 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron cardiomyocyte Other: Cell junction organization Signaling by Receptor Tyrosine Kinases Cellular responses to mechanical stimuli CLDN4 Gene Information Basic Information Ensembl ID: ENSG00000189143 Description: claudin 4 [Source:HGNC Symbol;Acc:HGNC:2046] Location: 7:73799542-73832690 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell endocrine cell trophoblast cell goblet cell pneumocyte stem cell enterocyte fibroblast enteroendocrine cell medullary cell Other: Cell junction organization CLDN5 Gene Information Basic Information Ensembl ID: ENSG00000184113 Description: claudin 5 [Source:HGNC Symbol;Acc:HGNC:2047] Location: 22:19523024-19527545 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte platelet Other: Cell junction organization RNA Polymerase II Transcription CLDN7 Gene Information Basic Information Ensembl ID: ENSG00000181885 Description: claudin 7 [Source:HGNC Symbol;Acc:HGNC:2049] Location: 17:7259903-7263983 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endocrine cell trophoblast cell epithelial cell stem cell goblet cell pancreatic cell enterocyte fibroblast secretory cell Other: Cell junction organization Gastrulation CTNNB1 Gene Information Basic Information Ensembl ID: ENSG00000168036 Description: catenin beta 1 [Source:HGNC Symbol;Acc:HGNC:2514] Location: 3:41194741-41260096 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell endothelial cell epithelial cell stem cell phagocyte adrenal cortical cell fibroblast monocyte Specialized T cell melanocyte M cell Other: Apoptosis Innate Immune System Signaling by WNT DST Gene Information Basic Information Ensembl ID: ENSG00000151914 Description: dystonin [Source:HGNC Symbol;Acc:HGNC:1090] Location: 6:56457987-56954830 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell fibroblast neuron epithelial cell endocrine cell skeletal muscle cell stem cell embryonic cell bipolar cell glial cell smooth muscle cell schwann cell astrocyte dendritic cell macrophage Other: Collagen formation Cell junction organization Signaling by Rho GTPases, Miro GTPases and RHOBTB3 HOXC8 Gene Information Basic Information Ensembl ID: ENSG00000037965 Description: homeobox C8 [Source:HGNC Symbol;Acc:HGNC:5129] Location: 12:54008985-54012769 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cell junction organization ITGA6 Gene Information Basic Information Ensembl ID: ENSG00000091409 Description: integrin subunit alpha 6 [Source:HGNC Symbol;Acc:HGNC:6142] Location: 2:172234216-172506459 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell goblet cell kidney cell pericyte epithelial cell embryonic cell stem cell glial cell stromal cell Other: Collagen formation Cell surface interactions at the vascular wall Integrin cell surface interactions MYC Gene Information Basic Information Ensembl ID: ENSG00000136997 Description: MYC proto-oncogene%2C bHLH transcription factor [Source:HGNC Symbol;Acc:HGNC:7553] Location: 8:127735434-127742951 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pericyte epithelial cell fibroblast stromal cell smooth muscle cell hematopoietic progenitor cell endothelial cell stem cell erythroblast muscle cell progenitor cell transient amplifying cell cancer stem cell B cell erythroid lineage cell Other: Cytokine Signaling in Immune system Signaling by NOTCH Signaling by WNT SOX10 Gene Information Basic Information Ensembl ID: ENSG00000100146 Description: SRY-box transcription factor 10 [Source:HGNC Symbol;Acc:HGNC:11190] Location: 22:37970686-37987422 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neural crest cell neural stem cell schwann cell Other: Cell junction organization Nervous system development MITF-M-regulated melanocyte development SPCS2 Gene Information Basic Information Ensembl ID: ENSG00000118363 Description: signal peptidase complex subunit 2 [Source:HGNC Symbol;Acc:HGNC:28962] Location: 11:74949261-74979033 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: Naive B cell stromal cell plasma cell plasmablast Other: Peptide hormone metabolism Cell junction organization Translation WT1 Gene Information Basic Information Ensembl ID: ENSG00000184937 Description: WT1 transcription factor [Source:HGNC Symbol;Acc:HGNC:12796] Location: 11:32387775-32435564 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell stromal cell podocyte mesothelial cell Other: Cell junction organization Transcriptional regulation of testis differentiation Kidney development ZEB2 Gene Information Basic Information Ensembl ID: ENSG00000169554 Description: zinc finger E-box binding homeobox 2 [Source:HGNC Symbol;Acc:HGNC:14881] Location: 2:144364364-144521057 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pericyte macrophage stem cell phagocyte monocyte glial cell stromal cell Specialized T cell mast cell retina cell myeloid cell interneuron leukocyte Naive B cell oligodendrocyte mesenchymal cell Other: Cell junction organization Gastrulation
Cell surface interactions at the vascular wall Pathway Hierarchies & Genes PECAM1 interactions (13 genes) Hemostasis Cell surface interactions at the vascular wall 7 genes PECAM1 interactions 6 genes	ANGPT1 Gene Information Basic Information Ensembl ID: ENSG00000154188 Description: angiopoietin 1 [Source:HGNC Symbol;Acc:HGNC:484] Location: 8:107249482-107498055 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: fibroblast pericyte stromal cell smooth muscle cell epithelial cell megakaryocyte Other: MAPK family signaling cascades Cell surface interactions at the vascular wall CD2 Gene Information Basic Information Ensembl ID: ENSG00000116824 Description: CD2 molecule [Source:HGNC Symbol;Acc:HGNC:1639] Location: 1:116754430-116769229 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell natural killer cell CD8+ T cell developing T cell T cell Other: Cell surface interactions at the vascular wall ITGA4 Gene Information Basic Information Ensembl ID: ENSG00000115232 Description: integrin subunit alpha 4 [Source:HGNC Symbol;Acc:HGNC:6140] Location: 2:181457202-181538940 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: natural killer cell developing T cell Naive B cell Specialized T cell mast cell lymphoid progenitor cell CD8+ T cell erythroid lineage cell T cell memory T cell progenitor cell erythroblast projection neuron Other: Cell surface interactions at the vascular wall Integrin cell surface interactions Adaptive Immune System ITGA6 Gene Information Basic Information Ensembl ID: ENSG00000091409 Description: integrin subunit alpha 6 [Source:HGNC Symbol;Acc:HGNC:6142] Location: 2:172234216-172506459 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell goblet cell kidney cell pericyte epithelial cell embryonic cell stem cell glial cell stromal cell Other: Collagen formation Cell surface interactions at the vascular wall Integrin cell surface interactions ITGAL Gene Information Basic Information Ensembl ID: ENSG00000005844 Description: integrin subunit alpha L [Source:HGNC Symbol;Acc:HGNC:6148] Location: 16:30472658-30523567 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell developing T cell T cell Specialized T cell CD4+ T cell lymphoid progenitor cell CD8+ T cell natural killer cell innate lymphoid cell leukocyte monocyte Other: Adaptive Immune System Innate Immune System Cell surface interactions at the vascular wall ITGAM Gene Information Basic Information Ensembl ID: ENSG00000169896 Description: integrin subunit alpha M [Source:HGNC Symbol;Acc:HGNC:6149] Location: 16:31259967-31332892 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: granulocyte hematopoietic cell dendritic cell myeloid derived suppressor cell monocyte eosinophil neutrophil Other: Cytokine Signaling in Immune system Innate Immune System Cell surface interactions at the vascular wall ITGAX Gene Information Basic Information Ensembl ID: ENSG00000140678 Description: integrin subunit alpha X [Source:HGNC Symbol;Acc:HGNC:6152] Location: 16:31355134-31382999 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell natural killer cell phagocyte mast cell monocyte granulocyte dendritic cell Other: Cytokine Signaling in Immune system Innate Immune System Cell surface interactions at the vascular wall ITGB3 Gene Information Basic Information Ensembl ID: ENSG00000259207 Description: integrin subunit beta 3 [Source:HGNC Symbol;Acc:HGNC:6156] Location: 17:47253827-47313743 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: platelet epithelial cell monocyte Other: ECM proteoglycans Elastic fibre formation Cell surface interactions at the vascular wall LCK Gene Information Basic Information Ensembl ID: ENSG00000182866 Description: LCK proto-oncogene%2C Src family tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:6524] Location: 1:32251244-32286165 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell natural killer cell CD8+ T cell developing T cell T cell lymphocyte Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System PECAM1 Gene Information Basic Information Ensembl ID: ENSG00000261371 Description: platelet and endothelial cell adhesion molecule 1 [Source:HGNC Symbol;Acc:HGNC:8823] Location: 17:64319415-64413776 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron fibroblast monocyte pericyte smooth muscle cell endocrine cell epithelial cell platelet immune cell stromal cell hematopoietic stem cell lymphocyte mesenchymal stem cell endocardial cell Other: Innate Immune System Cell surface interactions at the vascular wall Integrin cell surface interactions SELE Gene Information Basic Information Ensembl ID: ENSG00000007908 Description: selectin E [Source:HGNC Symbol;Acc:HGNC:10718] Location: 1:169722640-169764705 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell Other: Cell surface interactions at the vascular wall SELL Gene Information Basic Information Ensembl ID: ENSG00000188404 Description: selectin L [Source:HGNC Symbol;Acc:HGNC:10720] Location: 1:169690665-169711702 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell memory T cell Regulatory T cell Naive B cell T cell dendritic cell lymphoid progenitor cell granulocyte Follicular B cell antigen presenting cell memory B cell monocyte innate lymphoid cell developing T cell neutrophil Other: Adaptive Immune System Innate Immune System Cell surface interactions at the vascular wall SLC7A7 Gene Information Basic Information Ensembl ID: ENSG00000155465 Description: solute carrier family 7 member 7 [Source:HGNC Symbol;Acc:HGNC:11065] Location: 14:22773222-22829820 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell macrophage phagocyte enterocyte monocyte Other: Cell surface interactions at the vascular wall SLC-mediated transmembrane transport SLC transporter disorders
Cellular responses to mechanical stimuli Pathway Hierarchies & Genes Turbulent (oscillatory, disturbed) flow shear stress activates signaling by PIEZO1 and integrins in endothelial cells (2 genes) Cellular responses to stimuli Cellular responses to mechanical stimuli Mechanical load activates signaling by PIEZO1 and integrins in osteocytes 1 genes Response of endothelial cells to shear stress Turbulent (oscillatory, disturbed) flow shear stress activates signaling by PIEZO1 and integrins in endothelial cells 1 genes High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells (6 genes) Cellular responses to stimuli Cellular responses to mechanical stimuli Response of endothelial cells to shear stress High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells 6 genes Turbulent (oscillatory, disturbed) flow shear stress activates signaling by PIEZO1 and integrins in endothelial cells (1 genes) Cellular responses to stimuli Cellular responses to mechanical stimuli Response of endothelial cells to shear stress Turbulent (oscillatory, disturbed) flow shear stress activates signaling by PIEZO1 and integrins in endothelial cells 1 genes	CDH5 Gene Information Basic Information Ensembl ID: ENSG00000179776 Description: cadherin 5 [Source:HGNC Symbol;Acc:HGNC:1764] Location: 16:66366690-66404784 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron cardiomyocyte Other: Cell junction organization Signaling by Receptor Tyrosine Kinases Cellular responses to mechanical stimuli CTNNB1 Gene Information Basic Information Ensembl ID: ENSG00000168036 Description: catenin beta 1 [Source:HGNC Symbol;Acc:HGNC:2514] Location: 3:41194741-41260096 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell endothelial cell epithelial cell stem cell phagocyte adrenal cortical cell fibroblast monocyte Specialized T cell melanocyte M cell Other: Apoptosis Innate Immune System Signaling by WNT GNB1 Gene Information Basic Information Ensembl ID: ENSG00000078369 Description: G protein subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:4396] Location: 1:1785285-1892292 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: photoreceptor cell monocyte memory B cell dendritic cell Other: Olfactory Signaling Pathway Protein folding Transmission across Chemical Synapses GNG11 Gene Information Basic Information Ensembl ID: ENSG00000127920 Description: G protein subunit gamma 11 [Source:HGNC Symbol;Acc:HGNC:4403] Location: 7:93921735-93928610 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell hematopoietic stem cell smooth muscle cell T cell megakaryocyte Other: Protein folding Transmission across Chemical Synapses Potassium Channels GNGT2 Gene Information Basic Information Ensembl ID: ENSG00000167083 Description: G protein subunit gamma transducin 2 [Source:HGNC Symbol;Acc:HGNC:4412] Location: 17:49202791-49210574 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Transmission across Chemical Synapses Potassium Channels Integration of energy metabolism HSPG2 Gene Information Basic Information Ensembl ID: ENSG00000142798 Description: heparan sulfate proteoglycan 2 [Source:HGNC Symbol;Acc:HGNC:5273] Location: 1:21822244-21937310 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron glial cell adipocyte Other: Degradation of the extracellular matrix Metabolism of vitamins and cofactors Integrin cell surface interactions ITGB3 Gene Information Basic Information Ensembl ID: ENSG00000259207 Description: integrin subunit beta 3 [Source:HGNC Symbol;Acc:HGNC:6156] Location: 17:47253827-47313743 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: platelet epithelial cell monocyte Other: ECM proteoglycans Elastic fibre formation Cell surface interactions at the vascular wall PECAM1 Gene Information Basic Information Ensembl ID: ENSG00000261371 Description: platelet and endothelial cell adhesion molecule 1 [Source:HGNC Symbol;Acc:HGNC:8823] Location: 17:64319415-64413776 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron fibroblast monocyte pericyte smooth muscle cell endocrine cell epithelial cell platelet immune cell stromal cell hematopoietic stem cell lymphocyte mesenchymal stem cell endocardial cell Other: Innate Immune System Cell surface interactions at the vascular wall Integrin cell surface interactions STAT1 Gene Information Basic Information Ensembl ID: ENSG00000115415 Description: signal transducer and activator of transcription 1 [Source:HGNC Symbol;Acc:HGNC:11362] Location: 2:190908460-191020960 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell Regulatory T cell CD8+ T cell leukocyte secretory cell monocyte epithelial cell Other: Cytokine Signaling in Immune system Signaling by NOTCH RNA Polymerase II Transcription
Cellular responses to stress Pathway Hierarchies & Genes NFE2L2 regulating tumorigenic genes (1 genes) Cellular responses to stimuli Cellular responses to stress Cellular response to chemical stress KEAP1-NFE2L2 pathway Nuclear events mediated by NFE2L2 NFE2L2 regulating tumorigenic genes 1 genes Regulation of NFE2L2 gene expression (1 genes) Cellular responses to stimuli Cellular responses to stress Cellular response to chemical stress KEAP1-NFE2L2 pathway Nuclear events mediated by NFE2L2 Regulation of NFE2L2 gene expression 1 genes XBP1(S) activates chaperone genes (1 genes) Cellular responses to stimuli Cellular responses to stress Unfolded Protein Response (UPR) IRE1alpha activates chaperones XBP1(S) activates chaperone genes 1 genes Amino acids regulate mTORC1 (1 genes) Cellular responses to stimuli Cellular responses to stress Cellular response to starvation Amino acids regulate mTORC1 1 genes HSF1-dependent transactivation (1 genes) Cellular responses to stimuli Cellular responses to stress Cellular response to heat stress HSF1-dependent transactivation 1 genes Oncogene Induced Senescence (2 genes) Cellular responses to stimuli Cellular responses to stress Cellular Senescence Oncogene Induced Senescence 2 genes Regulation of gene expression by Hypoxia-inducible Factor (1 genes) Cellular responses to stimuli Cellular responses to stress Cellular response to hypoxia Regulation of gene expression by Hypoxia-inducible Factor 1 genes HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand (2 genes) Cellular responses to stimuli Cellular responses to stress HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand 2 genes Heme signaling (1 genes) Cellular responses to stimuli Cellular responses to stress Heme signaling 1 genes Mitochondrial unfolded protein response (UPRmt) (1 genes) Cellular responses to stimuli Cellular responses to stress Mitochondrial unfolded protein response (UPRmt) 1 genes	AR Gene Information Basic Information Ensembl ID: ENSG00000169083 Description: androgen receptor [Source:HGNC Symbol;Acc:HGNC:644] Location: X:67544021-67730619 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: fibroblast stromal cell epithelial cell adipocyte Other: Cellular responses to stress Post-translational protein modification RNA Polymerase II Transcription ATP6V0D2 Gene Information Basic Information Ensembl ID: ENSG00000147614 Description: ATPase H+ transporting V0 subunit d2 [Source:HGNC Symbol;Acc:HGNC:18266] Location: 8:85987323-86154225 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: kidney cell osteoclast Other: Innate Immune System Cellular responses to stress Signaling by Receptor Tyrosine Kinases CAMK2B Gene Information Basic Information Ensembl ID: ENSG00000058404 Description: calcium/calmodulin dependent protein kinase II beta [Source:HGNC Symbol;Acc:HGNC:1461] Location: 7:44210019-44334577 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: interneuron neuron Other: Transmission across Chemical Synapses Cytokine Signaling in Immune system Cellular responses to stress EGF Gene Information Basic Information Ensembl ID: ENSG00000138798 Description: epidermal growth factor [Source:HGNC Symbol;Acc:HGNC:3229] Location: 4:109912883-110013766 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: skeletal muscle cell epithelial cell glial cell Other: Signaling by NOTCH Membrane Trafficking Cellular responses to stress EPAS1 Gene Information Basic Information Ensembl ID: ENSG00000116016 Description: endothelial PAS domain protein 1 [Source:HGNC Symbol;Acc:HGNC:3374] Location: 2:46293667-46386697 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte trophoblast cell smooth muscle cell innate lymphoid cell Other: Macroautophagy Cellular responses to stress Transcriptional regulation of pluripotent stem cells ESR1 Gene Information Basic Information Ensembl ID: ENSG00000091831 Description: estrogen receptor 1 [Source:HGNC Symbol;Acc:HGNC:3467] Location: 6:151656691-152129619 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: fibroblast stromal cell plasma cell Other: Cellular responses to stress Post-translational protein modification RNA Polymerase II Transcription ETS1 Gene Information Basic Information Ensembl ID: ENSG00000134954 Description: ETS proto-oncogene 1%2C transcription factor [Source:HGNC Symbol;Acc:HGNC:3488] Location: 11:128458761-128587558 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell natural killer cell developing T cell Regulatory T cell CD4+ T cell lymphoid progenitor cell CD8+ T cell T cell lymphocyte Other: Cellular responses to stress ETS2 Gene Information Basic Information Ensembl ID: ENSG00000157557 Description: ETS proto-oncogene 2%2C transcription factor [Source:HGNC Symbol;Acc:HGNC:3489] Location: 21:38805183-38824955 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell endothelial cell goblet cell granulocyte progenitor cell monocyte Other: Cellular responses to stress MYC Gene Information Basic Information Ensembl ID: ENSG00000136997 Description: MYC proto-oncogene%2C bHLH transcription factor [Source:HGNC Symbol;Acc:HGNC:7553] Location: 8:127735434-127742951 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pericyte epithelial cell fibroblast stromal cell smooth muscle cell hematopoietic progenitor cell endothelial cell stem cell erythroblast muscle cell progenitor cell transient amplifying cell cancer stem cell B cell erythroid lineage cell Other: Cytokine Signaling in Immune system Signaling by NOTCH Signaling by WNT PGR Gene Information Basic Information Ensembl ID: ENSG00000082175 Description: progesterone receptor [Source:HGNC Symbol;Acc:HGNC:8910] Location: 11:101029624-101129813 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cellular responses to stress Post-translational protein modification RNA Polymerase II Transcription RORA Gene Information Basic Information Ensembl ID: ENSG00000069667 Description: RAR related orphan receptor A [Source:HGNC Symbol;Acc:HGNC:10258] Location: 15:60488284-61229302 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell endothelial cell neuron natural killer cell CD8+ T cell pericyte developing T cell T cell stem cell CD4+ T cell bipolar cell fibroblast stromal cell smooth muscle cell epithelial cell macrophage Other: Cytokine Signaling in Immune system Cellular responses to stress Metabolism of lipids XBP1 Gene Information Basic Information Ensembl ID: ENSG00000100219 Description: X-box binding protein 1 [Source:HGNC Symbol;Acc:HGNC:12801] Location: 22:28794555-28800597 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: natural killer cell dendritic cell goblet cell epithelial cell Naive B cell plasma cell stromal cell acinar cell Other: Cellular responses to stress
Chaperone Mediated Autophagy Pathway Hierarchies & Genes Chaperone Mediated Autophagy (1 genes) Autophagy Chaperone Mediated Autophagy 1 genes	CFTR Gene Information Basic Information Ensembl ID: ENSG00000001626 Description: CF transmembrane conductance regulator [Source:HGNC Symbol;Acc:HGNC:1884] Location: 7:117287120-117715971 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stem cell enterocyte epithelial cell progenitor cell ionocyte tuft cell monocyte hepatocyte Other: Macroautophagy Membrane Trafficking ABC-family proteins mediated transport
Chromatin modifying enzymes Pathway Hierarchies & Genes PKMTs methylate histone lysines (1 genes) Chromatin organization Chromatin modifying enzymes PKMTs methylate histone lysines 1 genes	MECOM Gene Information Basic Information Ensembl ID: ENSG00000085276 Description: MDS1 and EVI1 complex locus [Source:HGNC Symbol;Acc:HGNC:3498] Location: 3:169083499-169663775 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte epithelial cell goblet cell stem cell fibroblast secretory cell progenitor cell Other: Chromatin modifying enzymes Intracellular signaling by second messengers Kidney development
Cilium Assembly Pathway Hierarchies & Genes Anchoring of the basal body to the plasma membrane (1 genes) Organelle biogenesis and maintenance Cilium Assembly Anchoring of the basal body to the plasma membrane 1 genes	CDK1 Gene Information Basic Information Ensembl ID: ENSG00000170312 Description: cyclin dependent kinase 1 [Source:HGNC Symbol;Acc:HGNC:1722] Location: 10:60778331-60794852 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: progenitor cell Other: Cytokine Signaling in Immune system Cilium Assembly MAPK family signaling cascades
Ciprofloxacin ADME Pathway Hierarchies & Genes Ciprofloxacin ADME (1 genes) Drug ADME Ciprofloxacin ADME 1 genes	SLC22A8 Gene Information Basic Information Ensembl ID: ENSG00000149452 Description: solute carrier family 22 member 8 [Source:HGNC Symbol;Acc:HGNC:10972] Location: 11:62989154-63015841 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell retinal pigment epithelial cell Other: SLC-mediated transmembrane transport Ciprofloxacin ADME
Collagen formation Pathway Hierarchies & Genes Anchoring fibril formation (6 genes) Extracellular matrix organization Collagen formation Collagen biosynthesis and modifying enzymes Collagen chain trimerization Assembly of collagen fibrils and other multimeric structures 4 genes Anchoring fibril formation 2 genes Assembly of collagen fibrils and other multimeric structures (2 genes) Extracellular matrix organization Collagen formation Assembly of collagen fibrils and other multimeric structures 2 genes Collagen biosynthesis and modifying enzymes (1 genes) Extracellular matrix organization Collagen formation Collagen biosynthesis and modifying enzymes 1 genes	COL4A1 Gene Information Basic Information Ensembl ID: ENSG00000187498 Description: collagen type IV alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2202] Location: 13:110148963-110307202 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte stem cell fibroblast stromal cell smooth muscle cell adipocyte melanocyte basal cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL4A2 Gene Information Basic Information Ensembl ID: ENSG00000134871 Description: collagen type IV alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2203] Location: 13:110305812-110513209 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte epithelial cell stem cell adipocyte fibroblast glial cell stromal cell smooth muscle cell melanocyte Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL5A1 Gene Information Basic Information Ensembl ID: ENSG00000130635 Description: collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209] Location: 9:134641803-134844843 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron pericyte stromal cell stellate cell fibroblast stem cell embryonic cell mesenchymal cell skeletal muscle cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL5A2 Gene Information Basic Information Ensembl ID: ENSG00000204262 Description: collagen type V alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2210] Location: 2:189031898-189225312 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron pericyte stromal cell stellate cell fibroblast stem cell endothelial cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL5A3 Gene Information Basic Information Ensembl ID: ENSG00000080573 Description: collagen type V alpha 3 chain [Source:HGNC Symbol;Acc:HGNC:14864] Location: 19:9959561-10010504 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pericyte astrocyte mesenchymal cell mural cell glial cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL6A2 Gene Information Basic Information Ensembl ID: ENSG00000142173 Description: collagen type VI alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2212] Location: 21:46098112-46132848 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stromal cell fibroblast stellate cell endocrine cell pericyte stem cell endothelial cell smooth muscle cell Other: Degradation of the extracellular matrix Collagen formation Integrin cell surface interactions DST Gene Information Basic Information Ensembl ID: ENSG00000151914 Description: dystonin [Source:HGNC Symbol;Acc:HGNC:1090] Location: 6:56457987-56954830 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell fibroblast neuron epithelial cell endocrine cell skeletal muscle cell stem cell embryonic cell bipolar cell glial cell smooth muscle cell schwann cell astrocyte dendritic cell macrophage Other: Collagen formation Cell junction organization Signaling by Rho GTPases, Miro GTPases and RHOBTB3 ITGA6 Gene Information Basic Information Ensembl ID: ENSG00000091409 Description: integrin subunit alpha 6 [Source:HGNC Symbol;Acc:HGNC:6142] Location: 2:172234216-172506459 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell goblet cell kidney cell pericyte epithelial cell embryonic cell stem cell glial cell stromal cell Other: Collagen formation Cell surface interactions at the vascular wall Integrin cell surface interactions P3H2 Gene Information Basic Information Ensembl ID: ENSG00000090530 Description: prolyl 3-hydroxylase 2 [Source:HGNC Symbol;Acc:HGNC:19317] Location: 3:189956728-190122437 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell pneumocyte fibroblast Other: Collagen formation
Cytokine Signaling in Immune system Pathway Hierarchies & Genes Growth hormone receptor signaling (1 genes) Immune System Cytokine Signaling in Immune system Signaling by Interleukins Interleukin-6 family signaling Interleukin-6 signaling Interferon Signaling Antiviral mechanism by IFN-stimulated genes ISG15 antiviral mechanism Signaling by CSF3 (G-CSF) Inactivation of CSF3 (G-CSF) signaling Signaling by CSF1 (M-CSF) in myeloid cells Growth hormone receptor signaling 1 genes FLT3 signaling through SRC family kinases (2 genes) Immune System Cytokine Signaling in Immune system Signaling by Interleukins Interleukin-2 family signaling Interleukin-2 signaling 1 genes FLT3 Signaling FLT3 signaling through SRC family kinases 1 genes Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation (1 genes) Immune System Cytokine Signaling in Immune system Signaling by Interleukins Interleukin-12 family signaling Interleukin-12 signaling Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation 1 genes Inactivation of CSF3 (G-CSF) signaling (5 genes) Immune System Cytokine Signaling in Immune system Signaling by Interleukins Other interleukin signaling 2 genes Signaling by CSF3 (G-CSF) 1 genes Inactivation of CSF3 (G-CSF) signaling 2 genes Interferon gamma signaling (10 genes) Immune System Cytokine Signaling in Immune system Signaling by Interleukins Interleukin-4 and Interleukin-13 signaling 8 genes Interferon Signaling Interferon gamma signaling 2 genes Interferon gamma signaling (4 genes) Immune System Cytokine Signaling in Immune system Signaling by Interleukins Interleukin-10 signaling 3 genes Interferon Signaling Interferon gamma signaling 1 genes IL-6-type cytokine receptor ligand interactions (1 genes) Immune System Cytokine Signaling in Immune system Signaling by Interleukins Interleukin-6 family signaling IL-6-type cytokine receptor ligand interactions 1 genes Interleukin receptor SHC signaling (1 genes) Immune System Cytokine Signaling in Immune system Signaling by Interleukins Interleukin-2 family signaling Interleukin receptor SHC signaling 1 genes Interleukin-1 signaling (4 genes) Immune System Cytokine Signaling in Immune system Signaling by Interleukins Interleukin-1 family signaling Interleukin-1 signaling 4 genes Interleukin-15 signaling (2 genes) Immune System Cytokine Signaling in Immune system Signaling by Interleukins Interleukin-2 family signaling Interleukin-15 signaling 2 genes Interleukin-18 signaling (1 genes) Immune System Cytokine Signaling in Immune system Signaling by Interleukins Interleukin-1 family signaling Interleukin-18 signaling 1 genes Interleukin-33 signaling (1 genes) Immune System Cytokine Signaling in Immune system Signaling by Interleukins Interleukin-1 family signaling Interleukin-33 signaling 1 genes PKR-mediated signaling (1 genes) Immune System Cytokine Signaling in Immune system Interferon Signaling Antiviral mechanism by IFN-stimulated genes PKR-mediated signaling 1 genes Interferon gamma signaling (4 genes) Immune System Cytokine Signaling in Immune system Interferon Signaling Interferon gamma signaling 4 genes Interleukin-2 family signaling (1 genes) Immune System Cytokine Signaling in Immune system Signaling by Interleukins Interleukin-2 family signaling 1 genes Interleukin-7 signaling (2 genes) Immune System Cytokine Signaling in Immune system Signaling by Interleukins Interleukin-7 signaling 2 genes STAT5 Activation (1 genes) Immune System Cytokine Signaling in Immune system FLT3 Signaling STAT5 Activation 1 genes TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway (2 genes) Immune System Cytokine Signaling in Immune system TNFR2 non-canonical NF-kB pathway TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway 2 genes TNFs bind their physiological receptors (3 genes) Immune System Cytokine Signaling in Immune system TNFR2 non-canonical NF-kB pathway TNFs bind their physiological receptors 3 genes	AGER Gene Information Basic Information Ensembl ID: ENSG00000204305 Description: advanced glycosylation end-product specific receptor [Source:HGNC Symbol;Acc:HGNC:320] Location: 6:32180968-32184322 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pneumocyte Other: Cytokine Signaling in Immune system Innate Immune System ALOX5 Gene Information Basic Information Ensembl ID: ENSG00000012779 Description: arachidonate 5-lipoxygenase [Source:HGNC Symbol;Acc:HGNC:435] Location: 10:45374176-45446119 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell dendritic cell phagocyte Naive B cell tuft cell epithelial cell mast cell granulocyte basophil antigen presenting cell macrophage Other: Cytokine Signaling in Immune system Innate Immune System Metabolism of lipids APP Gene Information Basic Information Ensembl ID: ENSG00000142192 Description: amyloid beta precursor protein [Source:HGNC Symbol;Acc:HGNC:620] Location: 21:25880535-26171128 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron interneuron dendritic cell epithelial cell stem cell fibroblast Other: Cytokine Signaling in Immune system Innate Immune System Membrane Trafficking CAMK2B Gene Information Basic Information Ensembl ID: ENSG00000058404 Description: calcium/calmodulin dependent protein kinase II beta [Source:HGNC Symbol;Acc:HGNC:1461] Location: 7:44210019-44334577 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: interneuron neuron Other: Transmission across Chemical Synapses Cytokine Signaling in Immune system Cellular responses to stress CCR2 Gene Information Basic Information Ensembl ID: ENSG00000121807 Description: C-C motif chemokine receptor 2 [Source:HGNC Symbol;Acc:HGNC:1603] Location: 3:46353864-46360940 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: plasma cell monocyte Other: Cytokine Signaling in Immune system Innate Immune System Signaling by GPCR CD27 Gene Information Basic Information Ensembl ID: ENSG00000139193 Description: CD27 molecule [Source:HGNC Symbol;Acc:HGNC:11922] Location: 12:6444955-6451718 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: CD8+ T cell developing T cell T cell Regulatory T cell Naive B cell Follicular B cell plasma cell lymphocyte memory B cell memory T cell plasmablast B cell innate lymphoid cell Other: Cytokine Signaling in Immune system CD36 Gene Information Basic Information Ensembl ID: ENSG00000135218 Description: CD36 molecule (CD36 blood group) [Source:HGNC Symbol;Acc:HGNC:1663] Location: 7:80369575-80679277 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell phagocyte monocyte adipocyte erythrocyte erythroid lineage cell macrophage ependymal cell pericyte Other: Cytokine Signaling in Immune system Adaptive Immune System Integration of energy metabolism CD4 Gene Information Basic Information Ensembl ID: ENSG00000010610 Description: CD4 molecule [Source:HGNC Symbol;Acc:HGNC:1678] Location: 12:6786858-6820799 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell dendritic cell phagocyte CD4+ T cell antigen presenting cell hematopoietic cell monocyte macrophage developing T cell Regulatory T cell T cell memory T cell Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System CD40 Gene Information Basic Information Ensembl ID: ENSG00000101017 Description: CD40 molecule [Source:HGNC Symbol;Acc:HGNC:11919] Location: 20:46118271-46129863 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: Naive B cell dendritic cell Follicular B cell memory B cell macrophage Other: Cytokine Signaling in Immune system Adaptive Immune System CD86 Gene Information Basic Information Ensembl ID: ENSG00000114013 Description: CD86 molecule [Source:HGNC Symbol;Acc:HGNC:1705] Location: 3:122055362-122121139 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell macrophage phagocyte monocyte immune cell Other: Cytokine Signaling in Immune system Adaptive Immune System Intracellular signaling by second messengers CDK1 Gene Information Basic Information Ensembl ID: ENSG00000170312 Description: cyclin dependent kinase 1 [Source:HGNC Symbol;Acc:HGNC:1722] Location: 10:60778331-60794852 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: progenitor cell Other: Cytokine Signaling in Immune system Cilium Assembly MAPK family signaling cascades CSF1R Gene Information Basic Information Ensembl ID: ENSG00000182578 Description: colony stimulating factor 1 receptor [Source:HGNC Symbol;Acc:HGNC:2433] Location: 5:150053291-150113372 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron dendritic cell macrophage phagocyte monocyte antigen presenting cell hematopoietic cell microglia Macrophage-dendritic cell progenitor Other: Cytokine Signaling in Immune system RNA Polymerase II Transcription CSF3 Gene Information Basic Information Ensembl ID: ENSG00000108342 Description: colony stimulating factor 3 [Source:HGNC Symbol;Acc:HGNC:2438] Location: 17:40015361-40017813 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell epithelial cell Other: Cytokine Signaling in Immune system CSF3R Gene Information Basic Information Ensembl ID: ENSG00000119535 Description: colony stimulating factor 3 receptor [Source:HGNC Symbol;Acc:HGNC:2439] Location: 1:36466043-36483278 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell trophoblast cell phagocyte microglia granulocyte monocyte neutrophil myeloid cell Other: Cytokine Signaling in Immune system Transcriptional regulation of granulopoiesis CXCL10 Gene Information Basic Information Ensembl ID: ENSG00000169245 Description: C-X-C motif chemokine ligand 10 [Source:HGNC Symbol;Acc:HGNC:10637] Location: 4:76021118-76023497 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: monocyte phagocyte Other: Cytokine Signaling in Immune system Signaling by GPCR FLT3 Gene Information Basic Information Ensembl ID: ENSG00000122025 Description: fms related receptor tyrosine kinase 3 [Source:HGNC Symbol;Acc:HGNC:3765] Location: 13:28003274-28100592 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell Other: MAPK family signaling cascades Cytokine Signaling in Immune system Intracellular signaling by second messengers GATA3 Gene Information Basic Information Ensembl ID: ENSG00000107485 Description: GATA binding protein 3 [Source:HGNC Symbol;Acc:HGNC:4172] Location: 10:8045378-8075198 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell epithelial cell trophoblast cell developing T cell Regulatory T cell phagocyte natural killer cell CD4+ T cell lymphocyte innate lymphoid cell T helper cell neuron Other: Cytokine Signaling in Immune system Post-translational protein modification RNA Polymerase II Transcription HAVCR2 Gene Information Basic Information Ensembl ID: ENSG00000135077 Description: hepatitis A virus cellular receptor 2 [Source:HGNC Symbol;Acc:HGNC:18437] Location: 5:157085422-157142869 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron natural killer cell macrophage phagocyte microglia Specialized T cell CD8+ T cell T cell antigen presenting cell dendritic cell Other: Cytokine Signaling in Immune system HGF Gene Information Basic Information Ensembl ID: ENSG00000019991 Description: hepatocyte growth factor [Source:HGNC Symbol;Acc:HGNC:4893] Location: 7:81699010-81770438 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stellate cell fibroblast stromal cell bone cell Other: Cytokine Signaling in Immune system MAPK family signaling cascades Platelet activation, signaling and aggregation ICAM1 Gene Information Basic Information Ensembl ID: ENSG00000090339 Description: intercellular adhesion molecule 1 [Source:HGNC Symbol;Acc:HGNC:5344] Location: 19:10271093-10286615 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell endothelial cell natural killer cell dendritic cell phagocyte stromal cell pancreatic cell granulocyte macrophage kupffer cell fibroblast Other: Cytokine Signaling in Immune system Adaptive Immune System Integrin cell surface interactions IL15 Gene Information Basic Information Ensembl ID: ENSG00000164136 Description: interleukin 15 [Source:HGNC Symbol;Acc:HGNC:5977] Location: 4:141636583-141733987 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell Other: Cytokine Signaling in Immune system IL1R1 Gene Information Basic Information Ensembl ID: ENSG00000115594 Description: interleukin 1 receptor type 1 [Source:HGNC Symbol;Acc:HGNC:5993] Location: 2:102064544-102179874 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell blood cell fibroblast trophoblast cell stromal cell granulocyte epithelial cell neutrophil innate lymphoid cell Other: Cytokine Signaling in Immune system Viral Infection Pathways IL1R2 Gene Information Basic Information Ensembl ID: ENSG00000115590 Description: interleukin 1 receptor type 2 [Source:HGNC Symbol;Acc:HGNC:5994] Location: 2:101991960-102028544 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell dendritic cell macrophage granulocyte secretory cell monocyte neutrophil Other: Cytokine Signaling in Immune system IL1RL1 Gene Information Basic Information Ensembl ID: ENSG00000115602 Description: interleukin 1 receptor like 1 [Source:HGNC Symbol;Acc:HGNC:5998] Location: 2:102311502-102352037 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell endothelial cell mast cell lymphocyte Other: Cytokine Signaling in Immune system Intracellular signaling by second messengers IL2RA Gene Information Basic Information Ensembl ID: ENSG00000134460 Description: interleukin 2 receptor subunit alpha [Source:HGNC Symbol;Acc:HGNC:6008] Location: 10:6010689-6062370 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: Regulatory T cell macrophage dendritic cell developing T cell B cell mast cell CD8+ T cell T cell Follicular B cell Other: Cytokine Signaling in Immune system MAPK family signaling cascades RNA Polymerase II Transcription IL2RB Gene Information Basic Information Ensembl ID: ENSG00000100385 Description: interleukin 2 receptor subunit beta [Source:HGNC Symbol;Acc:HGNC:6009] Location: 22:37118666-37175118 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: natural killer cell developing T cell T cell Specialized T cell Other: Cytokine Signaling in Immune system MAPK family signaling cascades IL3RA Gene Information Basic Information Ensembl ID: ENSG00000185291 Description: interleukin 3 receptor subunit alpha [Source:HGNC Symbol;Acc:HGNC:6012] Location: X:1336616-1382689 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell enteroendocrine cell endothelial cell dendritic cell progenitor bone cell basophil antigen presenting cell plasma cell Other: Cytokine Signaling in Immune system MAPK family signaling cascades IL7 Gene Information Basic Information Ensembl ID: ENSG00000104432 Description: interleukin 7 [Source:HGNC Symbol;Acc:HGNC:6023] Location: 8:78675743-78805523 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron Other: Cytokine Signaling in Immune system IRF4 Gene Information Basic Information Ensembl ID: ENSG00000137265 Description: interferon regulatory factor 4 [Source:HGNC Symbol;Acc:HGNC:6119] Location: 6:391739-411443 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: Naive B cell dendritic cell plasma cell antigen presenting cell lymphocyte plasmablast Other: Cytokine Signaling in Immune system MITF-M-regulated melanocyte development Signaling by ALK in cancer IRF7 Gene Information Basic Information Ensembl ID: ENSG00000185507 Description: interferon regulatory factor 7 [Source:HGNC Symbol;Acc:HGNC:6122] Location: 11:612553-615983 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell Naive B cell dendritic cell progenitor bone cell monocyte antigen presenting cell plasma cell Other: Cytokine Signaling in Immune system Innate Immune System Viral Infection Pathways IRF8 Gene Information Basic Information Ensembl ID: ENSG00000140968 Description: interferon regulatory factor 8 [Source:HGNC Symbol;Acc:HGNC:5358] Location: 16:85899116-85922606 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell Naive B cell phagocyte Follicular B cell antigen presenting cell Other: Cytokine Signaling in Immune system ITGAM Gene Information Basic Information Ensembl ID: ENSG00000169896 Description: integrin subunit alpha M [Source:HGNC Symbol;Acc:HGNC:6149] Location: 16:31259967-31332892 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: granulocyte hematopoietic cell dendritic cell myeloid derived suppressor cell monocyte eosinophil neutrophil Other: Cytokine Signaling in Immune system Innate Immune System Cell surface interactions at the vascular wall ITGAX Gene Information Basic Information Ensembl ID: ENSG00000140678 Description: integrin subunit alpha X [Source:HGNC Symbol;Acc:HGNC:6152] Location: 16:31355134-31382999 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell natural killer cell phagocyte mast cell monocyte granulocyte dendritic cell Other: Cytokine Signaling in Immune system Innate Immune System Cell surface interactions at the vascular wall LCK Gene Information Basic Information Ensembl ID: ENSG00000182866 Description: LCK proto-oncogene%2C Src family tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:6524] Location: 1:32251244-32286165 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell natural killer cell CD8+ T cell developing T cell T cell lymphocyte Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System LCP1 Gene Information Basic Information Ensembl ID: ENSG00000136167 Description: lymphocyte cytosolic protein 1 [Source:HGNC Symbol;Acc:HGNC:6528] Location: 13:46125920-46211871 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell natural killer cell dendritic cell monocyte CD4+ T cell leukocyte granulocyte T cell neutrophil hematopoietic cell Other: Cytokine Signaling in Immune system LIFR Gene Information Basic Information Ensembl ID: ENSG00000113594 Description: LIF receptor subunit alpha [Source:HGNC Symbol;Acc:HGNC:6597] Location: 5:38474668-38608354 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: bergmann glial cell endothelial cell trophoblast cell stromal cell osteoblast astrocyte glial cell neural stem cell Other: Cytokine Signaling in Immune system RNA Polymerase II Transcription MMP2 Gene Information Basic Information Ensembl ID: ENSG00000087245 Description: matrix metallopeptidase 2 [Source:HGNC Symbol;Acc:HGNC:7166] Location: 16:55389700-55506691 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: mesenchymal cell smooth muscle cell Other: Cytokine Signaling in Immune system Degradation of the extracellular matrix Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) MYC Gene Information Basic Information Ensembl ID: ENSG00000136997 Description: MYC proto-oncogene%2C bHLH transcription factor [Source:HGNC Symbol;Acc:HGNC:7553] Location: 8:127735434-127742951 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pericyte epithelial cell fibroblast stromal cell smooth muscle cell hematopoietic progenitor cell endothelial cell stem cell erythroblast muscle cell progenitor cell transient amplifying cell cancer stem cell B cell erythroid lineage cell Other: Cytokine Signaling in Immune system Signaling by NOTCH Signaling by WNT NCAM1 Gene Information Basic Information Ensembl ID: ENSG00000149294 Description: neural cell adhesion molecule 1 [Source:HGNC Symbol;Acc:HGNC:7656] Location: 11:112961275-113278436 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron natural killer cell interneuron pericyte T cell glial cell smooth muscle cell motor neuron Specialized T cell innate lymphoid cell chromaffin cell epithelial cell neuroendocrine cell lymphocyte cancer stem cell progenitor cell stem cell mesenchymal stem cell immune cell cancer cell autonomic neuron Other: ECM proteoglycans Cytokine Signaling in Immune system MAPK family signaling cascades RORA Gene Information Basic Information Ensembl ID: ENSG00000069667 Description: RAR related orphan receptor A [Source:HGNC Symbol;Acc:HGNC:10258] Location: 15:60488284-61229302 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell endothelial cell neuron natural killer cell CD8+ T cell pericyte developing T cell T cell stem cell CD4+ T cell bipolar cell fibroblast stromal cell smooth muscle cell epithelial cell macrophage Other: Cytokine Signaling in Immune system Cellular responses to stress Metabolism of lipids SNAP25 Gene Information Basic Information Ensembl ID: ENSG00000132639 Description: synaptosome associated protein 25 [Source:HGNC Symbol;Acc:HGNC:11132] Location: 20:10172395-10308258 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron endocrine cell sensory neuron motor neuron Other: Transmission across Chemical Synapses Cytokine Signaling in Immune system Integration of energy metabolism SOX2 Gene Information Basic Information Ensembl ID: ENSG00000181449 Description: SRY-box transcription factor 2 [Source:HGNC Symbol;Acc:HGNC:11195] Location: 3:181711925-181714436 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell pericyte progenitor cell embryonic cell fibroblast glial cell neural crest cell stem cell cancer stem cell ectodermal cell basal cell Other: Cytokine Signaling in Immune system Signaling by WNT Transcriptional regulation of pluripotent stem cells STAT1 Gene Information Basic Information Ensembl ID: ENSG00000115415 Description: signal transducer and activator of transcription 1 [Source:HGNC Symbol;Acc:HGNC:11362] Location: 2:190908460-191020960 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell Regulatory T cell CD8+ T cell leukocyte secretory cell monocyte epithelial cell Other: Cytokine Signaling in Immune system Signaling by NOTCH RNA Polymerase II Transcription TNFRSF13C Gene Information Basic Information Ensembl ID: ENSG00000159958 Description: TNF receptor superfamily member 13C [Source:HGNC Symbol;Acc:HGNC:17755] Location: 22:41922032-41926806 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: Naive B cell Follicular B cell memory B cell Other: Cytokine Signaling in Immune system TNFRSF9 Gene Information Basic Information Ensembl ID: ENSG00000049249 Description: TNF receptor superfamily member 9 [Source:HGNC Symbol;Acc:HGNC:11924] Location: 1:7915871-7943165 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: developing T cell Regulatory T cell CD8+ T cell Specialized T cell T cell Other: Cytokine Signaling in Immune system TNFSF11 Gene Information Basic Information Ensembl ID: ENSG00000120659 Description: TNF superfamily member 11 [Source:HGNC Symbol;Acc:HGNC:11926] Location: 13:42562736-42608013 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stem cell Other: Cytokine Signaling in Immune system MITF-M-regulated melanocyte development VCAM1 Gene Information Basic Information Ensembl ID: ENSG00000162692 Description: vascular cell adhesion molecule 1 [Source:HGNC Symbol;Acc:HGNC:12663] Location: 1:100719742-100739045 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell stromal cell monocyte stem cell fibroblast Specialized T cell epithelial cell dendritic cell macrophage adipocyte mesenchymal stem cell cardiomyocyte Other: Cytokine Signaling in Immune system Adaptive Immune System Integrin cell surface interactions
Deadenylation-dependent mRNA decay Pathway Hierarchies & Genes Deadenylation of mRNA (1 genes) Metabolism of RNA Deadenylation-dependent mRNA decay Deadenylation of mRNA 1 genes	CNOT6L Gene Information Basic Information Ensembl ID: ENSG00000138767 Description: CCR4-NOT transcription complex subunit 6 like [Source:HGNC Symbol;Acc:HGNC:18042] Location: 4:77713387-77819615 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell endothelial cell natural killer cell CD8+ T cell developing T cell Regulatory T cell T cell Specialized T cell CD4+ T cell lymphoid progenitor cell Other: Deadenylation-dependent mRNA decay RNA Polymerase II Transcription Maternal to zygotic transition (MZT)
Death Receptor Signaling Pathway Hierarchies & Genes TRAIL signaling (1 genes) Signal Transduction Death Receptor Signaling TRAIL signaling 1 genes	TNFSF10 Gene Information Basic Information Ensembl ID: ENSG00000121858 Description: TNF superfamily member 10 [Source:HGNC Symbol;Acc:HGNC:11925] Location: 3:172505508-172523475 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell epithelial cell monocyte mast cell secretory cell Other: Apoptosis Regulated Necrosis Death Receptor Signaling
Degradation of the extracellular matrix Pathway Hierarchies & Genes Activation of Matrix Metalloproteinases (11 genes) Extracellular matrix organization Degradation of the extracellular matrix 4 genes Collagen degradation 6 genes Activation of Matrix Metalloproteinases 1 genes	CAPN8 Gene Information Basic Information Ensembl ID: ENSG00000203697 Description: calpain 8 [Source:HGNC Symbol;Acc:HGNC:1485] Location: 1:223538007-223665723 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: goblet cell epithelial cell Other: Degradation of the extracellular matrix CDH1 Gene Information Basic Information Ensembl ID: ENSG00000039068 Description: cadherin 1 [Source:HGNC Symbol;Acc:HGNC:1748] Location: 16:68737292-68835537 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: goblet cell epithelial cell pneumocyte stem cell secretory cell tuft cell paneth cell ciliated cell neuroendocrine cell brush cell basal cell serous cell deuterosomal cell club Other: Apoptosis Adaptive Immune System Degradation of the extracellular matrix COL4A1 Gene Information Basic Information Ensembl ID: ENSG00000187498 Description: collagen type IV alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2202] Location: 13:110148963-110307202 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte stem cell fibroblast stromal cell smooth muscle cell adipocyte melanocyte basal cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL4A2 Gene Information Basic Information Ensembl ID: ENSG00000134871 Description: collagen type IV alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2203] Location: 13:110305812-110513209 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte epithelial cell stem cell adipocyte fibroblast glial cell stromal cell smooth muscle cell melanocyte Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL5A1 Gene Information Basic Information Ensembl ID: ENSG00000130635 Description: collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209] Location: 9:134641803-134844843 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron pericyte stromal cell stellate cell fibroblast stem cell embryonic cell mesenchymal cell skeletal muscle cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL5A2 Gene Information Basic Information Ensembl ID: ENSG00000204262 Description: collagen type V alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2210] Location: 2:189031898-189225312 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron pericyte stromal cell stellate cell fibroblast stem cell endothelial cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL5A3 Gene Information Basic Information Ensembl ID: ENSG00000080573 Description: collagen type V alpha 3 chain [Source:HGNC Symbol;Acc:HGNC:14864] Location: 19:9959561-10010504 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pericyte astrocyte mesenchymal cell mural cell glial cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL6A2 Gene Information Basic Information Ensembl ID: ENSG00000142173 Description: collagen type VI alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2212] Location: 21:46098112-46132848 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stromal cell fibroblast stellate cell endocrine cell pericyte stem cell endothelial cell smooth muscle cell Other: Degradation of the extracellular matrix Collagen formation Integrin cell surface interactions FBN1 Gene Information Basic Information Ensembl ID: ENSG00000166147 Description: fibrillin 1 [Source:HGNC Symbol;Acc:HGNC:3603] Location: 15:48408313-48645721 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: fibroblast epithelial cell stem cell stromal cell smooth muscle cell mesenchymal cell Other: Degradation of the extracellular matrix Elastic fibre formation Integrin cell surface interactions HSPG2 Gene Information Basic Information Ensembl ID: ENSG00000142798 Description: heparan sulfate proteoglycan 2 [Source:HGNC Symbol;Acc:HGNC:5273] Location: 1:21822244-21937310 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron glial cell adipocyte Other: Degradation of the extracellular matrix Metabolism of vitamins and cofactors Integrin cell surface interactions MMP2 Gene Information Basic Information Ensembl ID: ENSG00000087245 Description: matrix metallopeptidase 2 [Source:HGNC Symbol;Acc:HGNC:7166] Location: 16:55389700-55506691 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: mesenchymal cell smooth muscle cell Other: Cytokine Signaling in Immune system Degradation of the extracellular matrix Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Developmental Cell Lineages Pathway Hierarchies & Genes Developmental Lineage of Multipotent Pancreatic Progenitor Cells (9 genes) Developmental Biology Developmental Cell Lineages Developmental Cell Lineages of the Integumentary System Developmental Lineages of the Mammary Gland Developmental Lineage of Mammary Gland Myoepithelial Cells 8 genes Developmental Cell Lineages of the Exocrine Pancreas Developmental Lineage of Multipotent Pancreatic Progenitor Cells 1 genes Developmental Lineage of Mammary Stem Cells (1 genes) Developmental Biology Developmental Cell Lineages Developmental Cell Lineages of the Integumentary System Developmental Lineages of the Mammary Gland Developmental Lineage of Mammary Stem Cells 1 genes Developmental Lineage of Multipotent Pancreatic Progenitor Cells (2 genes) Developmental Biology Developmental Cell Lineages Developmental Cell Lineages of the Exocrine Pancreas Developmental Lineage of Multipotent Pancreatic Progenitor Cells 2 genes Developmental Lineage of Pancreatic Acinar Cells (3 genes) Developmental Biology Developmental Cell Lineages Developmental Cell Lineages of the Exocrine Pancreas Developmental Lineage of Pancreatic Acinar Cells 3 genes Developmental Lineage of Pancreatic Ductal Cells (9 genes) Developmental Biology Developmental Cell Lineages Developmental Cell Lineages of the Exocrine Pancreas Developmental Lineage of Pancreatic Ductal Cells 9 genes Differentiation of Keratinocytes in Interfollicular Epidermis in Mammalian Skin (1 genes) Developmental Biology Developmental Cell Lineages Developmental Cell Lineages of the Integumentary System Differentiation of Keratinocytes in Interfollicular Epidermis in Mammalian Skin 1 genes	ALDH1A3 Gene Information Basic Information Ensembl ID: ENSG00000184254 Description: aldehyde dehydrogenase 1 family member A3 [Source:HGNC Symbol;Acc:HGNC:409] Location: 15:100861924-100916626 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stromal cell epithelial cell stem cell fibroblast Other: Signaling by Nuclear Receptors Developmental Cell Lineages AQP1 Gene Information Basic Information Ensembl ID: ENSG00000240583 Description: aquaporin 1 (Colton blood group) [Source:HGNC Symbol;Acc:HGNC:633] Location: 7:30911853-30925517 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell enteroendocrine cell fibroblast pneumocyte epithelial cell astrocyte Other: O2/CO2 exchange in erythrocytes Aquaporin-mediated transport Developmental Cell Lineages AQP3 Gene Information Basic Information Ensembl ID: ENSG00000165272 Description: aquaporin 3 (Gill blood group) [Source:HGNC Symbol;Acc:HGNC:636] Location: 9:33441156-33447596 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell memory T cell developing T cell T cell pneumocyte stem cell pancreatic cell innate lymphoid cell monocyte Other: Aquaporin-mediated transport Developmental Cell Lineages CA2 Gene Information Basic Information Ensembl ID: ENSG00000104267 Description: carbonic anhydrase 2 [Source:HGNC Symbol;Acc:HGNC:1373] Location: 8:85463968-85481493 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell erythrocyte endothelial cell glial cell stromal cell fibroblast enterocyte platelet erythroid lineage cell innate lymphoid cell hepatocyte megakaryocyte intercalated cell Other: Reversible hydration of carbon dioxide O2/CO2 exchange in erythrocytes Developmental Cell Lineages CDH1 Gene Information Basic Information Ensembl ID: ENSG00000039068 Description: cadherin 1 [Source:HGNC Symbol;Acc:HGNC:1748] Location: 16:68737292-68835537 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: goblet cell epithelial cell pneumocyte stem cell secretory cell tuft cell paneth cell ciliated cell neuroendocrine cell brush cell basal cell serous cell deuterosomal cell club Other: Apoptosis Adaptive Immune System Degradation of the extracellular matrix CFTR Gene Information Basic Information Ensembl ID: ENSG00000001626 Description: CF transmembrane conductance regulator [Source:HGNC Symbol;Acc:HGNC:1884] Location: 7:117287120-117715971 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stem cell enterocyte epithelial cell progenitor cell ionocyte tuft cell monocyte hepatocyte Other: Macroautophagy Membrane Trafficking ABC-family proteins mediated transport CNN1 Gene Information Basic Information Ensembl ID: ENSG00000130176 Description: calponin 1 [Source:HGNC Symbol;Acc:HGNC:2155] Location: 19:11538767-11550323 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pericyte epithelial cell stellate cell stem cell smooth muscle cell Other: Developmental Cell Lineages COL5A1 Gene Information Basic Information Ensembl ID: ENSG00000130635 Description: collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209] Location: 9:134641803-134844843 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron pericyte stromal cell stellate cell fibroblast stem cell embryonic cell mesenchymal cell skeletal muscle cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL5A2 Gene Information Basic Information Ensembl ID: ENSG00000204262 Description: collagen type V alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2210] Location: 2:189031898-189225312 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron pericyte stromal cell stellate cell fibroblast stem cell endothelial cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL5A3 Gene Information Basic Information Ensembl ID: ENSG00000080573 Description: collagen type V alpha 3 chain [Source:HGNC Symbol;Acc:HGNC:14864] Location: 19:9959561-10010504 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pericyte astrocyte mesenchymal cell mural cell glial cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation CPA2 Gene Information Basic Information Ensembl ID: ENSG00000158516 Description: carboxypeptidase A2 [Source:HGNC Symbol;Acc:HGNC:2297] Location: 7:130266863-130289798 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pancreatic cell Other: Developmental Cell Lineages EGF Gene Information Basic Information Ensembl ID: ENSG00000138798 Description: epidermal growth factor [Source:HGNC Symbol;Acc:HGNC:3229] Location: 4:109912883-110013766 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: skeletal muscle cell epithelial cell glial cell Other: Signaling by NOTCH Membrane Trafficking Cellular responses to stress EGFR Gene Information Basic Information Ensembl ID: ENSG00000146648 Description: epidermal growth factor receptor [Source:HGNC Symbol;Acc:HGNC:3236] Location: 7:55019017-55211628 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell endothelial cell trophoblast cell hepatocyte stem cell adipocyte fibroblast muscle cell stromal cell mesenchymal stem cell skeletal muscle cell cancer cell Other: Signaling by NOTCH Membrane Trafficking Signaling by GPCR GATA3 Gene Information Basic Information Ensembl ID: ENSG00000107485 Description: GATA binding protein 3 [Source:HGNC Symbol;Acc:HGNC:4172] Location: 10:8045378-8075198 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell epithelial cell trophoblast cell developing T cell Regulatory T cell phagocyte natural killer cell CD4+ T cell lymphocyte innate lymphoid cell T helper cell neuron Other: Cytokine Signaling in Immune system Post-translational protein modification RNA Polymerase II Transcription HHEX Gene Information Basic Information Ensembl ID: ENSG00000152804 Description: hematopoietically expressed homeobox [Source:HGNC Symbol;Acc:HGNC:4901] Location: 10:92689955-92695647 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: enteroendocrine cell cardiomyocyte endothelial cell Other: Transcriptional regulation of pluripotent stem cells Developmental Cell Lineages ITGA6 Gene Information Basic Information Ensembl ID: ENSG00000091409 Description: integrin subunit alpha 6 [Source:HGNC Symbol;Acc:HGNC:6142] Location: 2:172234216-172506459 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell goblet cell kidney cell pericyte epithelial cell embryonic cell stem cell glial cell stromal cell Other: Collagen formation Cell surface interactions at the vascular wall Integrin cell surface interactions KRT23 Gene Information Basic Information Ensembl ID: ENSG00000108244 Description: keratin 23 [Source:HGNC Symbol;Acc:HGNC:6438] Location: 17:40922700-40937646 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell trophoblast cell stem cell Other: Keratinization Developmental Cell Lineages KRT7 Gene Information Basic Information Ensembl ID: ENSG00000135480 Description: keratin 7 [Source:HGNC Symbol;Acc:HGNC:6445] Location: 12:52232520-52252186 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: kidney cell trophoblast cell epithelial cell stem cell goblet cell fibroblast secretory cell acinar cell M cell hepatocyte cancer cell ductal cell embryonic cell progenitor cell Other: Keratinization Developmental Cell Lineages LAMA2 Gene Information Basic Information Ensembl ID: ENSG00000196569 Description: laminin subunit alpha 2 [Source:HGNC Symbol;Acc:HGNC:6482] Location: 6:128883138-129516566 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: bergmann glial cell endothelial cell fibroblast cardiomyocyte pericyte skeletal muscle cell stem cell stromal cell glial cell Other: Laminin interactions Non-integrin membrane-ECM interactions ECM proteoglycans MME Gene Information Basic Information Ensembl ID: ENSG00000196549 Description: membrane metalloendopeptidase [Source:HGNC Symbol;Acc:HGNC:7154] Location: 3:155024124-155183704 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell Naive B cell enterocyte epithelial cell stromal cell fibroblast lymphoid progenitor cell adipocyte Other: Innate Immune System Peptide hormone metabolism Cardiac conduction PDX1 Gene Information Basic Information Ensembl ID: ENSG00000139515 Description: pancreatic and duodenal homeobox 1 [Source:HGNC Symbol;Acc:HGNC:6107] Location: 13:27920000-27926313 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Regulation of beta-cell development Developmental Cell Lineages SOX17 Gene Information Basic Information Ensembl ID: ENSG00000164736 Description: SRY-box transcription factor 17 [Source:HGNC Symbol;Acc:HGNC:18122] Location: 8:54457935-54460892 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell epithelial cell embryonic cell pericyte Other: Signaling by WNT Developmental Cell Lineages Gastrulation SOX9 Gene Information Basic Information Ensembl ID: ENSG00000125398 Description: SRY-box transcription factor 9 [Source:HGNC Symbol;Acc:HGNC:11204] Location: 17:72121020-72126416 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stem cell glial cell stromal cell tuft cell fibroblast ionocyte epithelial cell M cell chondrocyte cancer stem cell progenitor cell ductal cell Other: Signaling by WNT RNA Polymerase II Transcription Transcriptional regulation of testis differentiation TGFA Gene Information Basic Information Ensembl ID: ENSG00000163235 Description: transforming growth factor alpha [Source:HGNC Symbol;Acc:HGNC:11765] Location: 2:70447284-70554193 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Membrane Trafficking MAPK family signaling cascades Post-translational protein modification TP63 Gene Information Basic Information Ensembl ID: ENSG00000073282 Description: tumor protein p63 [Source:HGNC Symbol;Acc:HGNC:15979] Location: 3:189631389-189897276 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell intermediate cell Other: Apoptosis Regulated Necrosis RNA Polymerase II Transcription
Digestion Pathway Hierarchies & Genes Digestion of dietary carbohydrate (2 genes) Digestion and absorption Digestion Digestion of dietary carbohydrate 2 genes	PNLIPRP1 Gene Information Basic Information Ensembl ID: ENSG00000187021 Description: pancreatic lipase related protein 1 [Source:HGNC Symbol;Acc:HGNC:9156] Location: 10:116590385-116609175 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pancreatic cell Other: Digestion SI Gene Information Basic Information Ensembl ID: ENSG00000090402 Description: sucrase-isomaltase [Source:HGNC Symbol;Acc:HGNC:10856] Location: 3:164978898-165078496 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: enterocyte epithelial cell Other: Diseases of carbohydrate metabolism Digestion
Dissolution of Fibrin Clot Pathway Hierarchies & Genes Dissolution of Fibrin Clot (2 genes) Hemostasis Dissolution of Fibrin Clot 2 genes	PLAUR Gene Information Basic Information Ensembl ID: ENSG00000011422 Description: plasminogen activator%2C urokinase receptor [Source:HGNC Symbol;Acc:HGNC:9053] Location: 19:43646095-43670547 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell neuron macrophage dendritic cell phagocyte stem cell monocyte granulocyte neutrophil myeloid cell mesenchymal stem cell Other: Innate Immune System Post-translational protein modification Dissolution of Fibrin Clot SERPINE2 Gene Information Basic Information Ensembl ID: ENSG00000135919 Description: serpin family E member 2 [Source:HGNC Symbol;Acc:HGNC:8951] Location: 2:223975045-224039318 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: bergmann glial cell neuron fibroblast pericyte stem cell endothelial cell glial cell stromal cell epithelial cell dendritic cell melanocyte Other: Formation of Fibrin Clot (Clotting Cascade) Dissolution of Fibrin Clot
ECM proteoglycans Pathway Hierarchies & Genes ECM proteoglycans (17 genes) Extracellular matrix organization ECM proteoglycans 17 genes	APP Gene Information Basic Information Ensembl ID: ENSG00000142192 Description: amyloid beta precursor protein [Source:HGNC Symbol;Acc:HGNC:620] Location: 21:25880535-26171128 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron interneuron dendritic cell epithelial cell stem cell fibroblast Other: Cytokine Signaling in Immune system Innate Immune System Membrane Trafficking ASPN Gene Information Basic Information Ensembl ID: ENSG00000106819 Description: asporin [Source:HGNC Symbol;Acc:HGNC:14872] Location: 9:92456205-92482506 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stromal cell endocrine cell pericyte fibroblast stem cell mesodermal cell smooth muscle cell mesenchymal stem cell Other: ECM proteoglycans COL4A1 Gene Information Basic Information Ensembl ID: ENSG00000187498 Description: collagen type IV alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2202] Location: 13:110148963-110307202 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte stem cell fibroblast stromal cell smooth muscle cell adipocyte melanocyte basal cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL4A2 Gene Information Basic Information Ensembl ID: ENSG00000134871 Description: collagen type IV alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2203] Location: 13:110305812-110513209 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte epithelial cell stem cell adipocyte fibroblast glial cell stromal cell smooth muscle cell melanocyte Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL5A1 Gene Information Basic Information Ensembl ID: ENSG00000130635 Description: collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209] Location: 9:134641803-134844843 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron pericyte stromal cell stellate cell fibroblast stem cell embryonic cell mesenchymal cell skeletal muscle cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL5A2 Gene Information Basic Information Ensembl ID: ENSG00000204262 Description: collagen type V alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2210] Location: 2:189031898-189225312 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron pericyte stromal cell stellate cell fibroblast stem cell endothelial cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL5A3 Gene Information Basic Information Ensembl ID: ENSG00000080573 Description: collagen type V alpha 3 chain [Source:HGNC Symbol;Acc:HGNC:14864] Location: 19:9959561-10010504 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pericyte astrocyte mesenchymal cell mural cell glial cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL6A2 Gene Information Basic Information Ensembl ID: ENSG00000142173 Description: collagen type VI alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2212] Location: 21:46098112-46132848 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stromal cell fibroblast stellate cell endocrine cell pericyte stem cell endothelial cell smooth muscle cell Other: Degradation of the extracellular matrix Collagen formation Integrin cell surface interactions HSPG2 Gene Information Basic Information Ensembl ID: ENSG00000142798 Description: heparan sulfate proteoglycan 2 [Source:HGNC Symbol;Acc:HGNC:5273] Location: 1:21822244-21937310 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron glial cell adipocyte Other: Degradation of the extracellular matrix Metabolism of vitamins and cofactors Integrin cell surface interactions ITGA2B Gene Information Basic Information Ensembl ID: ENSG00000005961 Description: integrin subunit alpha 2b [Source:HGNC Symbol;Acc:HGNC:6138] Location: 17:44372180-44389649 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: myeloid cell basophil platelet progenitor cell megakaryocyte Other: Integrin cell surface interactions ECM proteoglycans Integrin signaling ITGAX Gene Information Basic Information Ensembl ID: ENSG00000140678 Description: integrin subunit alpha X [Source:HGNC Symbol;Acc:HGNC:6152] Location: 16:31355134-31382999 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell natural killer cell phagocyte mast cell monocyte granulocyte dendritic cell Other: Cytokine Signaling in Immune system Innate Immune System Cell surface interactions at the vascular wall ITGB3 Gene Information Basic Information Ensembl ID: ENSG00000259207 Description: integrin subunit beta 3 [Source:HGNC Symbol;Acc:HGNC:6156] Location: 17:47253827-47313743 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: platelet epithelial cell monocyte Other: ECM proteoglycans Elastic fibre formation Cell surface interactions at the vascular wall LAMA2 Gene Information Basic Information Ensembl ID: ENSG00000196569 Description: laminin subunit alpha 2 [Source:HGNC Symbol;Acc:HGNC:6482] Location: 6:128883138-129516566 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: bergmann glial cell endothelial cell fibroblast cardiomyocyte pericyte skeletal muscle cell stem cell stromal cell glial cell Other: Laminin interactions Non-integrin membrane-ECM interactions ECM proteoglycans LUM Gene Information Basic Information Ensembl ID: ENSG00000139329 Description: lumican [Source:HGNC Symbol;Acc:HGNC:6724] Location: 12:91102629-91111494 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stromal cell fibroblast endocrine cell pericyte stellate cell stem cell meningeal cell Other: Integrin cell surface interactions ECM proteoglycans Metabolism of carbohydrates and carbohydrate derivatives NCAM1 Gene Information Basic Information Ensembl ID: ENSG00000149294 Description: neural cell adhesion molecule 1 [Source:HGNC Symbol;Acc:HGNC:7656] Location: 11:112961275-113278436 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron natural killer cell interneuron pericyte T cell glial cell smooth muscle cell motor neuron Specialized T cell innate lymphoid cell chromaffin cell epithelial cell neuroendocrine cell lymphocyte cancer stem cell progenitor cell stem cell mesenchymal stem cell immune cell cancer cell autonomic neuron Other: ECM proteoglycans Cytokine Signaling in Immune system MAPK family signaling cascades TNC Gene Information Basic Information Ensembl ID: ENSG00000041982 Description: tenascin C [Source:HGNC Symbol;Acc:HGNC:5318] Location: 9:115019575-115118207 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron pericyte epithelial cell stem cell pneumocyte fibroblast stromal cell smooth muscle cell astrocyte Other: Integrin cell surface interactions Non-integrin membrane-ECM interactions ECM proteoglycans VCAN Gene Information Basic Information Ensembl ID: ENSG00000038427 Description: versican [Source:HGNC Symbol;Acc:HGNC:2464] Location: 5:83471618-83582303 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell fibroblast dendritic cell stem cell embryonic cell stromal cell phagocyte glial cell oligodendrocyte precursor cell epithelial cell schwann cell monocyte myeloid cell macrophage mesangial cell myeloid derived suppressor cell Other: ECM proteoglycans Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein modification
Elastic fibre formation Pathway Hierarchies & Genes Molecules associated with elastic fibres (5 genes) Extracellular matrix organization Elastic fibre formation Molecules associated with elastic fibres 5 genes	FBN1 Gene Information Basic Information Ensembl ID: ENSG00000166147 Description: fibrillin 1 [Source:HGNC Symbol;Acc:HGNC:3603] Location: 15:48408313-48645721 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: fibroblast epithelial cell stem cell stromal cell smooth muscle cell mesenchymal cell Other: Degradation of the extracellular matrix Elastic fibre formation Integrin cell surface interactions ITGB3 Gene Information Basic Information Ensembl ID: ENSG00000259207 Description: integrin subunit beta 3 [Source:HGNC Symbol;Acc:HGNC:6156] Location: 17:47253827-47313743 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: platelet epithelial cell monocyte Other: ECM proteoglycans Elastic fibre formation Cell surface interactions at the vascular wall LTBP2 Gene Information Basic Information Ensembl ID: ENSG00000119681 Description: latent transforming growth factor beta binding protein 2 [Source:HGNC Symbol;Acc:HGNC:6715] Location: 14:74498183-74612378 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell fibroblast stromal cell mesenchymal cell Other: Elastic fibre formation Signaling by TGFB family members MFAP4 Gene Information Basic Information Ensembl ID: ENSG00000166482 Description: microfibril associated protein 4 [Source:HGNC Symbol;Acc:HGNC:7035] Location: 17:19383442-19387190 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stromal cell fibroblast endocrine cell pericyte stem cell mesodermal cell smooth muscle cell epithelial cell Other: Elastic fibre formation MFAP5 Gene Information Basic Information Ensembl ID: ENSG00000197614 Description: microfibril associated protein 5 [Source:HGNC Symbol;Acc:HGNC:29673] Location: 12:8637346-8662888 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: trophoblast cell stem cell fibroblast stromal cell Other: Elastic fibre formation
Epigenetic regulation of gene expression Pathway Hierarchies & Genes MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis (3 genes) Gene expression (Transcription) Epigenetic regulation of gene expression Epigenetic regulation by WDR5-containing histone modifying complexes Epigenetic regulation of gene expression by MLL3 and MLL4 complexes Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis 3 genes	CD36 Gene Information Basic Information Ensembl ID: ENSG00000135218 Description: CD36 molecule (CD36 blood group) [Source:HGNC Symbol;Acc:HGNC:1663] Location: 7:80369575-80679277 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell phagocyte monocyte adipocyte erythrocyte erythroid lineage cell macrophage ependymal cell pericyte Other: Cytokine Signaling in Immune system Adaptive Immune System Integration of energy metabolism GPAM Gene Information Basic Information Ensembl ID: ENSG00000119927 Description: glycerol-3-phosphate acyltransferase%2C mitochondrial [Source:HGNC Symbol;Acc:HGNC:24865] Location: 10:112149865-112215377 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: adipocyte Other: Epigenetic regulation of gene expression Metabolism of lipids RNA Polymerase II Transcription PPARG Gene Information Basic Information Ensembl ID: ENSG00000132170 Description: peroxisome proliferator activated receptor gamma [Source:HGNC Symbol;Acc:HGNC:9236] Location: 3:12287368-12434356 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte epithelial cell stem cell phagocyte adipocyte macrophage tuft cell Other: Epigenetic regulation of gene expression Metabolism of lipids Post-translational protein modification
Expression of BMAL (ARNTL), CLOCK, and NPAS2 Pathway Hierarchies & Genes Expression of BMAL (ARNTL), CLOCK, and NPAS2 (2 genes) Circadian clock Expression of BMAL (ARNTL), CLOCK, and NPAS2 2 genes	RORA Gene Information Basic Information Ensembl ID: ENSG00000069667 Description: RAR related orphan receptor A [Source:HGNC Symbol;Acc:HGNC:10258] Location: 15:60488284-61229302 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell endothelial cell neuron natural killer cell CD8+ T cell pericyte developing T cell T cell stem cell CD4+ T cell bipolar cell fibroblast stromal cell smooth muscle cell epithelial cell macrophage Other: Cytokine Signaling in Immune system Cellular responses to stress Metabolism of lipids RORB Gene Information Basic Information Ensembl ID: ENSG00000198963 Description: RAR related orphan receptor B [Source:HGNC Symbol;Acc:HGNC:10259] Location: 9:74497335-74693177 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stromal cell fibroblast neuron inhibitory neuron excitatory neuron Other: RNA Polymerase II Transcription Expression of BMAL (ARNTL), CLOCK, and NPAS2
Factors involved in megakaryocyte development and platelet production Pathway Hierarchies & Genes Factors involved in megakaryocyte development and platelet production (3 genes) Hemostasis Factors involved in megakaryocyte development and platelet production 3 genes	DOCK5 Gene Information Basic Information Ensembl ID: ENSG00000147459 Description: dedicator of cytokinesis 5 [Source:HGNC Symbol;Acc:HGNC:23476] Location: 8:25184689-25418082 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell endothelial cell dendritic cell sensory neuron glial cell neuron epithelial cell granulocyte monocyte neutrophil fibroblast Other: Factors involved in megakaryocyte development and platelet production Signaling by Rho GTPases, Miro GTPases and RHOBTB3 GATA2 Gene Information Basic Information Ensembl ID: ENSG00000179348 Description: GATA binding protein 2 [Source:HGNC Symbol;Acc:HGNC:4171] Location: 3:128479427-128493201 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell endothelial cell trophoblast cell mast cell basophil progenitor cell Other: RNA Polymerase II Transcription Transcriptional regulation of granulopoiesis Factors involved in megakaryocyte development and platelet production GATA3 Gene Information Basic Information Ensembl ID: ENSG00000107485 Description: GATA binding protein 3 [Source:HGNC Symbol;Acc:HGNC:4172] Location: 10:8045378-8075198 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell epithelial cell trophoblast cell developing T cell Regulatory T cell phagocyte natural killer cell CD4+ T cell lymphocyte innate lymphoid cell T helper cell neuron Other: Cytokine Signaling in Immune system Post-translational protein modification RNA Polymerase II Transcription
Fibronectin matrix formation Pathway Hierarchies & Genes Fibronectin matrix formation (5 genes) Extracellular matrix organization Fibronectin matrix formation 5 genes	COL4A1 Gene Information Basic Information Ensembl ID: ENSG00000187498 Description: collagen type IV alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2202] Location: 13:110148963-110307202 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte stem cell fibroblast stromal cell smooth muscle cell adipocyte melanocyte basal cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL4A2 Gene Information Basic Information Ensembl ID: ENSG00000134871 Description: collagen type IV alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2203] Location: 13:110305812-110513209 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte epithelial cell stem cell adipocyte fibroblast glial cell stromal cell smooth muscle cell melanocyte Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL5A1 Gene Information Basic Information Ensembl ID: ENSG00000130635 Description: collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209] Location: 9:134641803-134844843 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron pericyte stromal cell stellate cell fibroblast stem cell embryonic cell mesenchymal cell skeletal muscle cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL5A2 Gene Information Basic Information Ensembl ID: ENSG00000204262 Description: collagen type V alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2210] Location: 2:189031898-189225312 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron pericyte stromal cell stellate cell fibroblast stem cell endothelial cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL5A3 Gene Information Basic Information Ensembl ID: ENSG00000080573 Description: collagen type V alpha 3 chain [Source:HGNC Symbol;Acc:HGNC:14864] Location: 19:9959561-10010504 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pericyte astrocyte mesenchymal cell mural cell glial cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation
Formation of Fibrin Clot (Clotting Cascade) Pathway Hierarchies & Genes Common Pathway of Fibrin Clot Formation (2 genes) Hemostasis Formation of Fibrin Clot (Clotting Cascade) Intrinsic Pathway of Fibrin Clot Formation 1 genes Common Pathway of Fibrin Clot Formation 1 genes Extrinsic Pathway of Fibrin Clot Formation (1 genes) Hemostasis Formation of Fibrin Clot (Clotting Cascade) Extrinsic Pathway of Fibrin Clot Formation 1 genes	SERPINE2 Gene Information Basic Information Ensembl ID: ENSG00000135919 Description: serpin family E member 2 [Source:HGNC Symbol;Acc:HGNC:8951] Location: 2:223975045-224039318 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: bergmann glial cell neuron fibroblast pericyte stem cell endothelial cell glial cell stromal cell epithelial cell dendritic cell melanocyte Other: Formation of Fibrin Clot (Clotting Cascade) Dissolution of Fibrin Clot TFPI Gene Information Basic Information Ensembl ID: ENSG00000003436 Description: tissue factor pathway inhibitor [Source:HGNC Symbol;Acc:HGNC:11760] Location: 2:187464230-187565760 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell blood cell fibroblast pericyte stromal cell smooth muscle cell mesenchymal cell Other: Formation of Fibrin Clot (Clotting Cascade) VWF Gene Information Basic Information Ensembl ID: ENSG00000110799 Description: von Willebrand factor [Source:HGNC Symbol;Acc:HGNC:12726] Location: 12:5948877-6124770 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte epithelial cell vascular cell Other: Formation of Fibrin Clot (Clotting Cascade) Integrin cell surface interactions Integrin signaling
Gastrulation Pathway Hierarchies & Genes Specification of the neural plate border (4 genes) Developmental Biology Gastrulation Germ layer formation at gastrulation Formation of paraxial mesoderm Somitogenesis 1 genes Formation of axial mesoderm 2 genes Formation of definitive endoderm Specification of the neural plate border 1 genes Formation of definitive endoderm (2 genes) Developmental Biology Gastrulation Epithelial-Mesenchymal Transition (EMT) during gastrulation 1 genes Formation of definitive endoderm 1 genes Formation of the posterior neural plate (2 genes) Developmental Biology Gastrulation Formation of the anterior neural plate Formation of the posterior neural plate 2 genes Formation of definitive endoderm (1 genes) Developmental Biology Gastrulation Formation of definitive endoderm 1 genes Formation of intermediate mesoderm (1 genes) Developmental Biology Gastrulation Formation of intermediate mesoderm 1 genes Specification of the neural plate border (1 genes) Developmental Biology Gastrulation Specification of the neural plate border 1 genes	CDH1 Gene Information Basic Information Ensembl ID: ENSG00000039068 Description: cadherin 1 [Source:HGNC Symbol;Acc:HGNC:1748] Location: 16:68737292-68835537 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: goblet cell epithelial cell pneumocyte stem cell secretory cell tuft cell paneth cell ciliated cell neuroendocrine cell brush cell basal cell serous cell deuterosomal cell club Other: Apoptosis Adaptive Immune System Degradation of the extracellular matrix CLDN7 Gene Information Basic Information Ensembl ID: ENSG00000181885 Description: claudin 7 [Source:HGNC Symbol;Acc:HGNC:2049] Location: 17:7259903-7263983 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endocrine cell trophoblast cell epithelial cell stem cell goblet cell pancreatic cell enterocyte fibroblast secretory cell Other: Cell junction organization Gastrulation CTNNB1 Gene Information Basic Information Ensembl ID: ENSG00000168036 Description: catenin beta 1 [Source:HGNC Symbol;Acc:HGNC:2514] Location: 3:41194741-41260096 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell endothelial cell epithelial cell stem cell phagocyte adrenal cortical cell fibroblast monocyte Specialized T cell melanocyte M cell Other: Apoptosis Innate Immune System Signaling by WNT EOMES Gene Information Basic Information Ensembl ID: ENSG00000163508 Description: eomesodermin [Source:HGNC Symbol;Acc:HGNC:3372] Location: 3:27715949-27722711 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: natural killer cell Specialized T cell CD8+ T cell T cell progenitor cell mesodermal cell brush cell Other: Transcriptional regulation of pluripotent stem cells Cardiogenesis Gastrulation LEF1 Gene Information Basic Information Ensembl ID: ENSG00000138795 Description: lymphoid enhancer binding factor 1 [Source:HGNC Symbol;Acc:HGNC:6551] Location: 4:108047545-108168956 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell developing T cell T cell Regulatory T cell Naive B cell CD4+ T cell lymphoid progenitor cell innate lymphoid cell Other: Signaling by WNT RNA Polymerase II Transcription Transcriptional regulation of granulopoiesis LHX1 Gene Information Basic Information Ensembl ID: ENSG00000273706 Description: LIM homeobox 1 [Source:HGNC Symbol;Acc:HGNC:6593] Location: 17:36936785-36944612 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell retina cell Other: Gastrulation Kidney development OTX2 Gene Information Basic Information Ensembl ID: ENSG00000165588 Description: orthodenticle homeobox 2 [Source:HGNC Symbol;Acc:HGNC:8522] Location: 14:56799905-56816693 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: sensory neuron neuron Other: Gastrulation SOX17 Gene Information Basic Information Ensembl ID: ENSG00000164736 Description: SRY-box transcription factor 17 [Source:HGNC Symbol;Acc:HGNC:18122] Location: 8:54457935-54460892 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell epithelial cell embryonic cell pericyte Other: Signaling by WNT Developmental Cell Lineages Gastrulation SOX2 Gene Information Basic Information Ensembl ID: ENSG00000181449 Description: SRY-box transcription factor 2 [Source:HGNC Symbol;Acc:HGNC:11195] Location: 3:181711925-181714436 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell pericyte progenitor cell embryonic cell fibroblast glial cell neural crest cell stem cell cancer stem cell ectodermal cell basal cell Other: Cytokine Signaling in Immune system Signaling by WNT Transcriptional regulation of pluripotent stem cells TFAP2B Gene Information Basic Information Ensembl ID: ENSG00000008196 Description: transcription factor AP-2 beta [Source:HGNC Symbol;Acc:HGNC:11743] Location: 6:50818723-50847619 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: interneuron endocrine cell stem cell fibroblast melanocyte inhibitory neuron neural crest cell Other: Post-translational protein modification RNA Polymerase II Transcription Gastrulation ZEB2 Gene Information Basic Information Ensembl ID: ENSG00000169554 Description: zinc finger E-box binding homeobox 2 [Source:HGNC Symbol;Acc:HGNC:14881] Location: 2:144364364-144521057 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pericyte macrophage stem cell phagocyte monocyte glial cell stromal cell Specialized T cell mast cell retina cell myeloid cell interneuron leukocyte Naive B cell oligodendrocyte mesenchymal cell Other: Cell junction organization Gastrulation
Innate Immune System Pathway Hierarchies & Genes Advanced glycosylation endproduct receptor signaling (2 genes) Immune System Innate Immune System Toll-like Receptor Cascades Toll Like Receptor 4 (TLR4) Cascade MyD88-independent TLR4 cascade TRIF (TICAM1)-mediated TLR4 signaling Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways Inflammasomes The NLRP3 inflammasome 1 genes DDX58/IFIH1-mediated induction of interferon-alpha/beta TRAF6 mediated NF-kB activation Advanced glycosylation endproduct receptor signaling 1 genes DEx/H-box helicases activate type I IFN and inflammatory cytokines production (1 genes) Immune System Innate Immune System Toll-like Receptor Cascades Toll Like Receptor 4 (TLR4) Cascade MyD88-independent TLR4 cascade TRIF (TICAM1)-mediated TLR4 signaling Activation of IRF3, IRF7 mediated by TBK1, IKKε (IKBKE) DDX58/IFIH1-mediated induction of interferon-alpha/beta TRAF3-dependent IRF activation pathway Cytosolic sensors of pathogen-associated DNA DEx/H-box helicases activate type I IFN and inflammatory cytokines production 1 genes Neutrophil degranulation (1 genes) Immune System Innate Immune System Toll-like Receptor Cascades Toll Like Receptor 4 (TLR4) Cascade MyD88-independent TLR4 cascade TRIF (TICAM1)-mediated TLR4 signaling Activation of IRF3, IRF7 mediated by TBK1, IKKε (IKBKE) Regulation of TBK1, IKKε (IKBKE)-mediated activation of IRF3, IRF7 Neutrophil degranulation 1 genes Neutrophil degranulation (1 genes) Immune System Innate Immune System Complement cascade Initial triggering of complement Creation of C4 and C2 activators Lectin pathway of complement activation Ficolins bind to repetitive carbohydrate structures on the target cell surface Neutrophil degranulation 1 genes Classical antibody-mediated complement activation (2 genes) Immune System Innate Immune System Complement cascade Initial triggering of complement Creation of C4 and C2 activators Classical antibody-mediated complement activation 2 genes Neutrophil degranulation (1 genes) Immune System Innate Immune System Toll-like Receptor Cascades Toll Like Receptor 4 (TLR4) Cascade MyD88:MAL(TIRAP) cascade initiated on plasma membrane Neutrophil degranulation 1 genes Alpha-defensins (1 genes) Immune System Innate Immune System Antimicrobial peptides Defensins Alpha-defensins 1 genes Beta defensins (1 genes) Immune System Innate Immune System Antimicrobial peptides Defensins Beta defensins 1 genes Metal sequestration by antimicrobial proteins (17 genes) Immune System Innate Immune System Neutrophil degranulation 16 genes Antimicrobial peptides Metal sequestration by antimicrobial proteins 1 genes Neutrophil degranulation (4 genes) Immune System Innate Immune System Complement cascade Regulation of Complement cascade 3 genes Neutrophil degranulation 1 genes Neutrophil degranulation (1 genes) Immune System Innate Immune System ROS and RNS production in phagocytes Events associated with phagocytolytic activity of PMN cells Neutrophil degranulation 1 genes Neutrophil degranulation (1 genes) Immune System Innate Immune System Toll-like Receptor Cascades Toll Like Receptor 4 (TLR4) Cascade Neutrophil degranulation 1 genes CLEC7A (Dectin-1) signaling (1 genes) Immune System Innate Immune System C-type lectin receptors (CLRs) CLEC7A (Dectin-1) signaling 1 genes DAP12 signaling (3 genes) Immune System Innate Immune System DAP12 interactions DAP12 signaling 3 genes Dectin-2 family (2 genes) Immune System Innate Immune System C-type lectin receptors (CLRs) Dectin-2 family 2 genes FCGR activation (1 genes) Immune System Innate Immune System Fcgamma receptor (FCGR) dependent phagocytosis FCGR activation 1 genes LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production (1 genes) Immune System Innate Immune System Cytosolic sensors of pathogen-associated DNA LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production 1 genes Role of LAT2/NTAL/LAB on calcium mobilization (1 genes) Immune System Innate Immune System Fc epsilon receptor (FCERI) signaling Role of LAT2/NTAL/LAB on calcium mobilization 1 genes Role of phospholipids in phagocytosis (1 genes) Immune System Innate Immune System Fcgamma receptor (FCGR) dependent phagocytosis Role of phospholipids in phagocytosis 1 genes Antimicrobial peptides (1 genes) Immune System Innate Immune System Antimicrobial peptides 1 genes ROS and RNS production in phagocytes (2 genes) Immune System Innate Immune System ROS and RNS production in phagocytes 2 genes	AGER Gene Information Basic Information Ensembl ID: ENSG00000204305 Description: advanced glycosylation end-product specific receptor [Source:HGNC Symbol;Acc:HGNC:320] Location: 6:32180968-32184322 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pneumocyte Other: Cytokine Signaling in Immune system Innate Immune System ALOX5 Gene Information Basic Information Ensembl ID: ENSG00000012779 Description: arachidonate 5-lipoxygenase [Source:HGNC Symbol;Acc:HGNC:435] Location: 10:45374176-45446119 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell dendritic cell phagocyte Naive B cell tuft cell epithelial cell mast cell granulocyte basophil antigen presenting cell macrophage Other: Cytokine Signaling in Immune system Innate Immune System Metabolism of lipids APP Gene Information Basic Information Ensembl ID: ENSG00000142192 Description: amyloid beta precursor protein [Source:HGNC Symbol;Acc:HGNC:620] Location: 21:25880535-26171128 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron interneuron dendritic cell epithelial cell stem cell fibroblast Other: Cytokine Signaling in Immune system Innate Immune System Membrane Trafficking ATP6V0D2 Gene Information Basic Information Ensembl ID: ENSG00000147614 Description: ATPase H+ transporting V0 subunit d2 [Source:HGNC Symbol;Acc:HGNC:18266] Location: 8:85987323-86154225 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: kidney cell osteoclast Other: Innate Immune System Cellular responses to stress Signaling by Receptor Tyrosine Kinases C1QC Gene Information Basic Information Ensembl ID: ENSG00000159189 Description: complement C1q C chain [Source:HGNC Symbol;Acc:HGNC:1245] Location: 1:22643014-22648110 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron dendritic cell macrophage phagocyte microglia leukocyte myeloid cell monocyte antigen presenting cell Other: Innate Immune System C1R Gene Information Basic Information Ensembl ID: ENSG00000159403 Description: complement C1r [Source:HGNC Symbol;Acc:HGNC:1246] Location: 12:7080214-7092540 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stromal cell fibroblast hepatocyte epithelial cell pericyte smooth muscle cell Other: Innate Immune System CCR2 Gene Information Basic Information Ensembl ID: ENSG00000121807 Description: C-C motif chemokine receptor 2 [Source:HGNC Symbol;Acc:HGNC:1603] Location: 3:46353864-46360940 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: plasma cell monocyte Other: Cytokine Signaling in Immune system Innate Immune System Signaling by GPCR CD14 Gene Information Basic Information Ensembl ID: ENSG00000170458 Description: CD14 molecule [Source:HGNC Symbol;Acc:HGNC:1628] Location: 5:140631728-140633700 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell macrophage dendritic cell phagocyte myeloid cell antigen presenting cell monocyte Other: Apoptosis Adaptive Immune System Innate Immune System CD19 Gene Information Basic Information Ensembl ID: ENSG00000177455 Description: CD19 molecule [Source:HGNC Symbol;Acc:HGNC:1633] Location: 16:28931965-28939342 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: Naive B cell Follicular B cell Regulatory plasma cell cancer cell follicular cell plasmablast memory B cell fibroblast Other: Adaptive Immune System Innate Immune System Intracellular signaling by second messengers CD247 Gene Information Basic Information Ensembl ID: ENSG00000198821 Description: CD247 molecule [Source:HGNC Symbol;Acc:HGNC:1677] Location: 1:167425027-167518640 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell natural killer cell developing T cell innate lymphoid cell lymphocyte Other: Adaptive Immune System Innate Immune System Parasitic Infection Pathways CD36 Gene Information Basic Information Ensembl ID: ENSG00000135218 Description: CD36 molecule (CD36 blood group) [Source:HGNC Symbol;Acc:HGNC:1663] Location: 7:80369575-80679277 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell phagocyte monocyte adipocyte erythrocyte erythroid lineage cell macrophage ependymal cell pericyte Other: Cytokine Signaling in Immune system Adaptive Immune System Integration of energy metabolism CD4 Gene Information Basic Information Ensembl ID: ENSG00000010610 Description: CD4 molecule [Source:HGNC Symbol;Acc:HGNC:1678] Location: 12:6786858-6820799 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell dendritic cell phagocyte CD4+ T cell antigen presenting cell hematopoietic cell monocyte macrophage developing T cell Regulatory T cell T cell memory T cell Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System CD55 Gene Information Basic Information Ensembl ID: ENSG00000196352 Description: CD55 molecule (Cromer blood group) [Source:HGNC Symbol;Acc:HGNC:2665] Location: 1:207321519-207386804 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell dendritic cell trophoblast cell stromal cell Specialized T cell goblet cell kidney cell monocyte granulocyte T cell epithelial cell Naive B cell neutrophil Other: Innate Immune System Membrane Trafficking Signaling by GPCR CFH Gene Information Basic Information Ensembl ID: ENSG00000000971 Description: complement factor H [Source:HGNC Symbol;Acc:HGNC:4883] Location: 1:196651754-196752476 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stromal cell hepatocyte fibroblast endothelial cell epithelial cell preadipocyte Other: Innate Immune System CHGA Gene Information Basic Information Ensembl ID: ENSG00000100604 Description: chromogranin A [Source:HGNC Symbol;Acc:HGNC:1929] Location: 14:92923150-92935285 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron endocrine cell sensory neuron epithelial cell enteroendocrine cell neuroendocrine cell Other: Innate Immune System CLEC10A Gene Information Basic Information Ensembl ID: ENSG00000132514 Description: C-type lectin domain containing 10A [Source:HGNC Symbol;Acc:HGNC:16916] Location: 17:7074537-7080307 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell phagocyte innate lymphoid cell macrophage Other: Innate Immune System CLEC7A Gene Information Basic Information Ensembl ID: ENSG00000172243 Description: C-type lectin domain containing 7A [Source:HGNC Symbol;Acc:HGNC:14558] Location: 12:10116777-10130258 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell macrophage phagocyte monocyte leukocyte neuron myeloid cell hematopoietic cell Other: Innate Immune System CR2 Gene Information Basic Information Ensembl ID: ENSG00000117322 Description: complement C3d receptor 2 [Source:HGNC Symbol;Acc:HGNC:2336] Location: 1:207453024-207489895 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: fibroblast Follicular B cell memory B cell dendritic cell Regulatory leukocyte Naive B cell Other: Innate Immune System CTNNB1 Gene Information Basic Information Ensembl ID: ENSG00000168036 Description: catenin beta 1 [Source:HGNC Symbol;Acc:HGNC:2514] Location: 3:41194741-41260096 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell endothelial cell epithelial cell stem cell phagocyte adrenal cortical cell fibroblast monocyte Specialized T cell melanocyte M cell Other: Apoptosis Innate Immune System Signaling by WNT DSP Gene Information Basic Information Ensembl ID: ENSG00000096696 Description: desmoplakin [Source:HGNC Symbol;Acc:HGNC:3052] Location: 6:7541326-7586717 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell neuron endocrine cell trophoblast cell enteroendocrine cell thymic epithelial cell stem cell Other: Signaling by Rho GTPases, Miro GTPases and RHOBTB3 Apoptosis Innate Immune System EPX Gene Information Basic Information Ensembl ID: ENSG00000121053 Description: eosinophil peroxidase [Source:HGNC Symbol;Acc:HGNC:3423] Location: 17:58192726-58205174 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: mast cell eosinophil Other: Innate Immune System FCN1 Gene Information Basic Information Ensembl ID: ENSG00000085265 Description: ficolin 1 [Source:HGNC Symbol;Acc:HGNC:3623] Location: 9:134903232-134917912 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell macrophage dendritic cell phagocyte bone cell hematopoietic progenitor cell monocyte myeloid cell antigen presenting cell Other: Innate Immune System IQGAP2 Gene Information Basic Information Ensembl ID: ENSG00000145703 Description: IQ motif containing GTPase activating protein 2 [Source:HGNC Symbol;Acc:HGNC:6111] Location: 5:76403285-76708132 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: natural killer cell kidney cell developing T cell epithelial cell Regulatory T cell phagocyte CD4+ T cell CD8+ T cell basophil T cell antigen presenting cell hematopoietic cell macrophage Specialized T cell glial cell innate lymphoid cell erythroblast Other: Signaling by Rho GTPases, Miro GTPases and RHOBTB3 Innate Immune System IRF7 Gene Information Basic Information Ensembl ID: ENSG00000185507 Description: interferon regulatory factor 7 [Source:HGNC Symbol;Acc:HGNC:6122] Location: 11:612553-615983 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell Naive B cell dendritic cell progenitor bone cell monocyte antigen presenting cell plasma cell Other: Cytokine Signaling in Immune system Innate Immune System Viral Infection Pathways ITGAL Gene Information Basic Information Ensembl ID: ENSG00000005844 Description: integrin subunit alpha L [Source:HGNC Symbol;Acc:HGNC:6148] Location: 16:30472658-30523567 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell developing T cell T cell Specialized T cell CD4+ T cell lymphoid progenitor cell CD8+ T cell natural killer cell innate lymphoid cell leukocyte monocyte Other: Adaptive Immune System Innate Immune System Cell surface interactions at the vascular wall ITGAM Gene Information Basic Information Ensembl ID: ENSG00000169896 Description: integrin subunit alpha M [Source:HGNC Symbol;Acc:HGNC:6149] Location: 16:31259967-31332892 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: granulocyte hematopoietic cell dendritic cell myeloid derived suppressor cell monocyte eosinophil neutrophil Other: Cytokine Signaling in Immune system Innate Immune System Cell surface interactions at the vascular wall ITGAX Gene Information Basic Information Ensembl ID: ENSG00000140678 Description: integrin subunit alpha X [Source:HGNC Symbol;Acc:HGNC:6152] Location: 16:31355134-31382999 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell natural killer cell phagocyte mast cell monocyte granulocyte dendritic cell Other: Cytokine Signaling in Immune system Innate Immune System Cell surface interactions at the vascular wall KLRD1 Gene Information Basic Information Ensembl ID: ENSG00000134539 Description: killer cell lectin like receptor D1 [Source:HGNC Symbol;Acc:HGNC:6378] Location: 12:10226058-10329608 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: natural killer cell CD8+ T cell developing T cell Specialized T cell T cell Regulatory T cell Other: Adaptive Immune System Innate Immune System LCK Gene Information Basic Information Ensembl ID: ENSG00000182866 Description: LCK proto-oncogene%2C Src family tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:6524] Location: 1:32251244-32286165 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell natural killer cell CD8+ T cell developing T cell T cell lymphocyte Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System LTF Gene Information Basic Information Ensembl ID: ENSG00000012223 Description: lactotransferrin [Source:HGNC Symbol;Acc:HGNC:6720] Location: 3:46435645-46485234 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell epithelial cell goblet cell myeloid cell secretory cell neutrophil acinar cell endothelial cell myeloid derived suppressor cell Other: Bacterial Infection Pathways Innate Immune System Amyloid fiber formation MLEC Gene Information Basic Information Ensembl ID: ENSG00000110917 Description: malectin [Source:HGNC Symbol;Acc:HGNC:28973] Location: 12:120687149-120704282 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stem cell embryonic cell endothelial cell plasma cell pneumocyte fibroblast melanocyte megakaryocyte Other: Innate Immune System Post-translational protein modification MME Gene Information Basic Information Ensembl ID: ENSG00000196549 Description: membrane metalloendopeptidase [Source:HGNC Symbol;Acc:HGNC:7154] Location: 3:155024124-155183704 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell Naive B cell enterocyte epithelial cell stromal cell fibroblast lymphoid progenitor cell adipocyte Other: Innate Immune System Peptide hormone metabolism Cardiac conduction MNDA Gene Information Basic Information Ensembl ID: ENSG00000163563 Description: myeloid cell nuclear differentiation antigen [Source:HGNC Symbol;Acc:HGNC:7183] Location: 1:158831351-158849506 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell myeloid cell macrophage dendritic cell phagocyte monocyte hematopoietic progenitor cell granulocyte neutrophil Other: Innate Immune System MPO Gene Information Basic Information Ensembl ID: ENSG00000005381 Description: myeloperoxidase [Source:HGNC Symbol;Acc:HGNC:7218] Location: 17:58269855-58280935 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell myeloid cell bone cell granulocyte neutrophil Other: Innate Immune System MS4A2 Gene Information Basic Information Ensembl ID: ENSG00000149534 Description: membrane spanning 4-domains A2 [Source:HGNC Symbol;Acc:HGNC:7316] Location: 11:60088261-60098467 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell mast cell Other: Innate Immune System MUC4 Gene Information Basic Information Ensembl ID: ENSG00000145113 Description: mucin 4%2C cell surface associated [Source:HGNC Symbol;Acc:HGNC:7514] Location: 3:195746765-195811973 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: goblet cell stem cell epithelial cell Other: Diseases of glycosylation Innate Immune System Post-translational protein modification NOS1 Gene Information Basic Information Ensembl ID: ENSG00000089250 Description: nitric oxide synthase 1 [Source:HGNC Symbol;Acc:HGNC:7872] Location: 12:117208142-117452170 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Innate Immune System Platelet homeostasis Cardiac conduction OLFM4 Gene Information Basic Information Ensembl ID: ENSG00000102837 Description: olfactomedin 4 [Source:HGNC Symbol;Acc:HGNC:17190] Location: 13:53028813-53052057 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stem cell Other: Innate Immune System PECAM1 Gene Information Basic Information Ensembl ID: ENSG00000261371 Description: platelet and endothelial cell adhesion molecule 1 [Source:HGNC Symbol;Acc:HGNC:8823] Location: 17:64319415-64413776 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron fibroblast monocyte pericyte smooth muscle cell endocrine cell epithelial cell platelet immune cell stromal cell hematopoietic stem cell lymphocyte mesenchymal stem cell endocardial cell Other: Innate Immune System Cell surface interactions at the vascular wall Integrin cell surface interactions PLAUR Gene Information Basic Information Ensembl ID: ENSG00000011422 Description: plasminogen activator%2C urokinase receptor [Source:HGNC Symbol;Acc:HGNC:9053] Location: 19:43646095-43670547 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell neuron macrophage dendritic cell phagocyte stem cell monocyte granulocyte neutrophil myeloid cell mesenchymal stem cell Other: Innate Immune System Post-translational protein modification Dissolution of Fibrin Clot PLD4 Gene Information Basic Information Ensembl ID: ENSG00000166428 Description: phospholipase D family member 4 [Source:HGNC Symbol;Acc:HGNC:23792] Location: 14:104924713-104937761 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron dendritic cell macrophage phagocyte Naive B cell bone cell antigen presenting cell plasma cell Other: Inositol phosphate metabolism Innate Immune System Metabolism of lipids SELL Gene Information Basic Information Ensembl ID: ENSG00000188404 Description: selectin L [Source:HGNC Symbol;Acc:HGNC:10720] Location: 1:169690665-169711702 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell memory T cell Regulatory T cell Naive B cell T cell dendritic cell lymphoid progenitor cell granulocyte Follicular B cell antigen presenting cell memory B cell monocyte innate lymphoid cell developing T cell neutrophil Other: Adaptive Immune System Innate Immune System Cell surface interactions at the vascular wall SERPINB1 Gene Information Basic Information Ensembl ID: ENSG00000021355 Description: serpin family B member 1 [Source:HGNC Symbol;Acc:HGNC:3311] Location: 6:2832332-2841959 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell epithelial cell hematopoietic stem cell dendritic cell mast cell lymphoid progenitor cell hematopoietic progenitor cell monocyte granulocyte basophil Other: Innate Immune System SNAP25 Gene Information Basic Information Ensembl ID: ENSG00000132639 Description: synaptosome associated protein 25 [Source:HGNC Symbol;Acc:HGNC:11132] Location: 20:10172395-10308258 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron endocrine cell sensory neuron motor neuron Other: Transmission across Chemical Synapses Cytokine Signaling in Immune system Integration of energy metabolism STOM Gene Information Basic Information Ensembl ID: ENSG00000148175 Description: stomatin [Source:HGNC Symbol;Acc:HGNC:3383] Location: 9:121338987-121370304 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Innate Immune System Signaling by Rho GTPases, Miro GTPases and RHOBTB3 Ion channel transport TREM2 Gene Information Basic Information Ensembl ID: ENSG00000095970 Description: triggering receptor expressed on myeloid cells 2 [Source:HGNC Symbol;Acc:HGNC:17761] Location: 6:41158506-41163186 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron macrophage dendritic cell phagocyte monocyte antigen presenting cell microglia Other: Adaptive Immune System Innate Immune System Nervous system development
Inositol phosphate metabolism Pathway Hierarchies & Genes Synthesis of IP3 and IP4 in the cytosol (2 genes) Metabolism Inositol phosphate metabolism Synthesis of IP3 and IP4 in the cytosol 2 genes	PLCB1 Gene Information Basic Information Ensembl ID: ENSG00000182621 Description: phospholipase C beta 1 [Source:HGNC Symbol;Acc:HGNC:15917] Location: 20:8077251-8968360 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron goblet cell epithelial cell fibroblast smooth muscle cell T cell glial cell Other: Transmission across Chemical Synapses Inositol phosphate metabolism Integration of energy metabolism PLD4 Gene Information Basic Information Ensembl ID: ENSG00000166428 Description: phospholipase D family member 4 [Source:HGNC Symbol;Acc:HGNC:23792] Location: 14:104924713-104937761 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron dendritic cell macrophage phagocyte Naive B cell bone cell antigen presenting cell plasma cell Other: Inositol phosphate metabolism Innate Immune System Metabolism of lipids
Insertion of tail-anchored proteins into the endoplasmic reticulum membrane Pathway Hierarchies & Genes Insertion of tail-anchored proteins into the endoplasmic reticulum membrane (1 genes) Protein localization Insertion of tail-anchored proteins into the endoplasmic reticulum membrane 1 genes	APP Gene Information Basic Information Ensembl ID: ENSG00000142192 Description: amyloid beta precursor protein [Source:HGNC Symbol;Acc:HGNC:620] Location: 21:25880535-26171128 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron interneuron dendritic cell epithelial cell stem cell fibroblast Other: Cytokine Signaling in Immune system Innate Immune System Membrane Trafficking
Integration of energy metabolism Pathway Hierarchies & Genes Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion (1 genes) Metabolism Integration of energy metabolism Regulation of insulin secretion Free fatty acids regulate insulin secretion Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion 1 genes Glucagon-like Peptide-1 (GLP1) regulates insulin secretion (3 genes) Metabolism Integration of energy metabolism Glucagon signaling in metabolic regulation Regulation of insulin secretion 1 genes Glucagon-like Peptide-1 (GLP1) regulates insulin secretion 2 genes Intracellular metabolism of fatty acids regulates insulin secretion (1 genes) Metabolism Integration of energy metabolism Regulation of insulin secretion Free fatty acids regulate insulin secretion Intracellular metabolism of fatty acids regulates insulin secretion 1 genes Regulation of insulin secretion (1 genes) Metabolism Integration of energy metabolism Regulation of insulin secretion 1 genes	CD36 Gene Information Basic Information Ensembl ID: ENSG00000135218 Description: CD36 molecule (CD36 blood group) [Source:HGNC Symbol;Acc:HGNC:1663] Location: 7:80369575-80679277 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell phagocyte monocyte adipocyte erythrocyte erythroid lineage cell macrophage ependymal cell pericyte Other: Cytokine Signaling in Immune system Adaptive Immune System Integration of energy metabolism GNB1 Gene Information Basic Information Ensembl ID: ENSG00000078369 Description: G protein subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:4396] Location: 1:1785285-1892292 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: photoreceptor cell monocyte memory B cell dendritic cell Other: Olfactory Signaling Pathway Protein folding Transmission across Chemical Synapses GNG11 Gene Information Basic Information Ensembl ID: ENSG00000127920 Description: G protein subunit gamma 11 [Source:HGNC Symbol;Acc:HGNC:4403] Location: 7:93921735-93928610 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell hematopoietic stem cell smooth muscle cell T cell megakaryocyte Other: Protein folding Transmission across Chemical Synapses Potassium Channels GNGT2 Gene Information Basic Information Ensembl ID: ENSG00000167083 Description: G protein subunit gamma transducin 2 [Source:HGNC Symbol;Acc:HGNC:4412] Location: 17:49202791-49210574 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Transmission across Chemical Synapses Potassium Channels Integration of energy metabolism PLCB1 Gene Information Basic Information Ensembl ID: ENSG00000182621 Description: phospholipase C beta 1 [Source:HGNC Symbol;Acc:HGNC:15917] Location: 20:8077251-8968360 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron goblet cell epithelial cell fibroblast smooth muscle cell T cell glial cell Other: Transmission across Chemical Synapses Inositol phosphate metabolism Integration of energy metabolism SNAP25 Gene Information Basic Information Ensembl ID: ENSG00000132639 Description: synaptosome associated protein 25 [Source:HGNC Symbol;Acc:HGNC:11132] Location: 20:10172395-10308258 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron endocrine cell sensory neuron motor neuron Other: Transmission across Chemical Synapses Cytokine Signaling in Immune system Integration of energy metabolism
Integrin cell surface interactions Pathway Hierarchies & Genes Integrin cell surface interactions (23 genes) Extracellular matrix organization Integrin cell surface interactions 23 genes	CDH1 Gene Information Basic Information Ensembl ID: ENSG00000039068 Description: cadherin 1 [Source:HGNC Symbol;Acc:HGNC:1748] Location: 16:68737292-68835537 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: goblet cell epithelial cell pneumocyte stem cell secretory cell tuft cell paneth cell ciliated cell neuroendocrine cell brush cell basal cell serous cell deuterosomal cell club Other: Apoptosis Adaptive Immune System Degradation of the extracellular matrix COL4A1 Gene Information Basic Information Ensembl ID: ENSG00000187498 Description: collagen type IV alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2202] Location: 13:110148963-110307202 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte stem cell fibroblast stromal cell smooth muscle cell adipocyte melanocyte basal cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL4A2 Gene Information Basic Information Ensembl ID: ENSG00000134871 Description: collagen type IV alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2203] Location: 13:110305812-110513209 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte epithelial cell stem cell adipocyte fibroblast glial cell stromal cell smooth muscle cell melanocyte Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL5A1 Gene Information Basic Information Ensembl ID: ENSG00000130635 Description: collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209] Location: 9:134641803-134844843 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron pericyte stromal cell stellate cell fibroblast stem cell embryonic cell mesenchymal cell skeletal muscle cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL5A2 Gene Information Basic Information Ensembl ID: ENSG00000204262 Description: collagen type V alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2210] Location: 2:189031898-189225312 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron pericyte stromal cell stellate cell fibroblast stem cell endothelial cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL5A3 Gene Information Basic Information Ensembl ID: ENSG00000080573 Description: collagen type V alpha 3 chain [Source:HGNC Symbol;Acc:HGNC:14864] Location: 19:9959561-10010504 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pericyte astrocyte mesenchymal cell mural cell glial cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL6A2 Gene Information Basic Information Ensembl ID: ENSG00000142173 Description: collagen type VI alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2212] Location: 21:46098112-46132848 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stromal cell fibroblast stellate cell endocrine cell pericyte stem cell endothelial cell smooth muscle cell Other: Degradation of the extracellular matrix Collagen formation Integrin cell surface interactions FBN1 Gene Information Basic Information Ensembl ID: ENSG00000166147 Description: fibrillin 1 [Source:HGNC Symbol;Acc:HGNC:3603] Location: 15:48408313-48645721 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: fibroblast epithelial cell stem cell stromal cell smooth muscle cell mesenchymal cell Other: Degradation of the extracellular matrix Elastic fibre formation Integrin cell surface interactions HSPG2 Gene Information Basic Information Ensembl ID: ENSG00000142798 Description: heparan sulfate proteoglycan 2 [Source:HGNC Symbol;Acc:HGNC:5273] Location: 1:21822244-21937310 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron glial cell adipocyte Other: Degradation of the extracellular matrix Metabolism of vitamins and cofactors Integrin cell surface interactions ICAM1 Gene Information Basic Information Ensembl ID: ENSG00000090339 Description: intercellular adhesion molecule 1 [Source:HGNC Symbol;Acc:HGNC:5344] Location: 19:10271093-10286615 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell endothelial cell natural killer cell dendritic cell phagocyte stromal cell pancreatic cell granulocyte macrophage kupffer cell fibroblast Other: Cytokine Signaling in Immune system Adaptive Immune System Integrin cell surface interactions ITGA1 Gene Information Basic Information Ensembl ID: ENSG00000213949 Description: integrin subunit alpha 1 [Source:HGNC Symbol;Acc:HGNC:6134] Location: 5:52787916-52959209 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte developing T cell epithelial cell fibroblast glial cell stromal cell Specialized T cell smooth muscle cell CD8+ T cell T cell mesenchymal cell lymphocyte beta cell memory T cell Other: Integrin cell surface interactions Laminin interactions Smooth Muscle Contraction ITGA2B Gene Information Basic Information Ensembl ID: ENSG00000005961 Description: integrin subunit alpha 2b [Source:HGNC Symbol;Acc:HGNC:6138] Location: 17:44372180-44389649 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: myeloid cell basophil platelet progenitor cell megakaryocyte Other: Integrin cell surface interactions ECM proteoglycans Integrin signaling ITGA4 Gene Information Basic Information Ensembl ID: ENSG00000115232 Description: integrin subunit alpha 4 [Source:HGNC Symbol;Acc:HGNC:6140] Location: 2:181457202-181538940 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: natural killer cell developing T cell Naive B cell Specialized T cell mast cell lymphoid progenitor cell CD8+ T cell erythroid lineage cell T cell memory T cell progenitor cell erythroblast projection neuron Other: Cell surface interactions at the vascular wall Integrin cell surface interactions Adaptive Immune System ITGA6 Gene Information Basic Information Ensembl ID: ENSG00000091409 Description: integrin subunit alpha 6 [Source:HGNC Symbol;Acc:HGNC:6142] Location: 2:172234216-172506459 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell goblet cell kidney cell pericyte epithelial cell embryonic cell stem cell glial cell stromal cell Other: Collagen formation Cell surface interactions at the vascular wall Integrin cell surface interactions ITGAL Gene Information Basic Information Ensembl ID: ENSG00000005844 Description: integrin subunit alpha L [Source:HGNC Symbol;Acc:HGNC:6148] Location: 16:30472658-30523567 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell developing T cell T cell Specialized T cell CD4+ T cell lymphoid progenitor cell CD8+ T cell natural killer cell innate lymphoid cell leukocyte monocyte Other: Adaptive Immune System Innate Immune System Cell surface interactions at the vascular wall ITGAM Gene Information Basic Information Ensembl ID: ENSG00000169896 Description: integrin subunit alpha M [Source:HGNC Symbol;Acc:HGNC:6149] Location: 16:31259967-31332892 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: granulocyte hematopoietic cell dendritic cell myeloid derived suppressor cell monocyte eosinophil neutrophil Other: Cytokine Signaling in Immune system Innate Immune System Cell surface interactions at the vascular wall ITGAX Gene Information Basic Information Ensembl ID: ENSG00000140678 Description: integrin subunit alpha X [Source:HGNC Symbol;Acc:HGNC:6152] Location: 16:31355134-31382999 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell natural killer cell phagocyte mast cell monocyte granulocyte dendritic cell Other: Cytokine Signaling in Immune system Innate Immune System Cell surface interactions at the vascular wall ITGB3 Gene Information Basic Information Ensembl ID: ENSG00000259207 Description: integrin subunit beta 3 [Source:HGNC Symbol;Acc:HGNC:6156] Location: 17:47253827-47313743 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: platelet epithelial cell monocyte Other: ECM proteoglycans Elastic fibre formation Cell surface interactions at the vascular wall LUM Gene Information Basic Information Ensembl ID: ENSG00000139329 Description: lumican [Source:HGNC Symbol;Acc:HGNC:6724] Location: 12:91102629-91111494 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stromal cell fibroblast endocrine cell pericyte stellate cell stem cell meningeal cell Other: Integrin cell surface interactions ECM proteoglycans Metabolism of carbohydrates and carbohydrate derivatives PECAM1 Gene Information Basic Information Ensembl ID: ENSG00000261371 Description: platelet and endothelial cell adhesion molecule 1 [Source:HGNC Symbol;Acc:HGNC:8823] Location: 17:64319415-64413776 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron fibroblast monocyte pericyte smooth muscle cell endocrine cell epithelial cell platelet immune cell stromal cell hematopoietic stem cell lymphocyte mesenchymal stem cell endocardial cell Other: Innate Immune System Cell surface interactions at the vascular wall Integrin cell surface interactions TNC Gene Information Basic Information Ensembl ID: ENSG00000041982 Description: tenascin C [Source:HGNC Symbol;Acc:HGNC:5318] Location: 9:115019575-115118207 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron pericyte epithelial cell stem cell pneumocyte fibroblast stromal cell smooth muscle cell astrocyte Other: Integrin cell surface interactions Non-integrin membrane-ECM interactions ECM proteoglycans VCAM1 Gene Information Basic Information Ensembl ID: ENSG00000162692 Description: vascular cell adhesion molecule 1 [Source:HGNC Symbol;Acc:HGNC:12663] Location: 1:100719742-100739045 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell stromal cell monocyte stem cell fibroblast Specialized T cell epithelial cell dendritic cell macrophage adipocyte mesenchymal stem cell cardiomyocyte Other: Cytokine Signaling in Immune system Adaptive Immune System Integrin cell surface interactions VWF Gene Information Basic Information Ensembl ID: ENSG00000110799 Description: von Willebrand factor [Source:HGNC Symbol;Acc:HGNC:12726] Location: 12:5948877-6124770 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte epithelial cell vascular cell Other: Formation of Fibrin Clot (Clotting Cascade) Integrin cell surface interactions Integrin signaling
Integrin signaling Pathway Hierarchies & Genes p130Cas linkage to MAPK signaling for integrins (1 genes) Signal Transduction Integrin signaling GRB2:SOS provides linkage to MAPK signaling for Integrins p130Cas linkage to MAPK signaling for integrins 1 genes p130Cas linkage to MAPK signaling for integrins (2 genes) Signal Transduction Integrin signaling GRB2:SOS provides linkage to MAPK signaling for Integrins p130Cas linkage to MAPK signaling for integrins 2 genes	ITGA2B Gene Information Basic Information Ensembl ID: ENSG00000005961 Description: integrin subunit alpha 2b [Source:HGNC Symbol;Acc:HGNC:6138] Location: 17:44372180-44389649 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: myeloid cell basophil platelet progenitor cell megakaryocyte Other: Integrin cell surface interactions ECM proteoglycans Integrin signaling ITGB3 Gene Information Basic Information Ensembl ID: ENSG00000259207 Description: integrin subunit beta 3 [Source:HGNC Symbol;Acc:HGNC:6156] Location: 17:47253827-47313743 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: platelet epithelial cell monocyte Other: ECM proteoglycans Elastic fibre formation Cell surface interactions at the vascular wall VWF Gene Information Basic Information Ensembl ID: ENSG00000110799 Description: von Willebrand factor [Source:HGNC Symbol;Acc:HGNC:12726] Location: 12:5948877-6124770 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte epithelial cell vascular cell Other: Formation of Fibrin Clot (Clotting Cascade) Integrin cell surface interactions Integrin signaling
Intracellular signaling by second messengers Pathway Hierarchies & Genes CaMK IV-mediated phosphorylation of CREB (1 genes) Signal Transduction Intracellular signaling by second messengers DAG and IP3 signaling CaM pathway Calmodulin induced events CaMK IV-mediated phosphorylation of CREB 1 genes PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling (17 genes) Signal Transduction Intracellular signaling by second messengers PIP3 activates AKT signaling Negative regulation of the PI3K/AKT network PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling 17 genes Regulation of PTEN gene transcription (2 genes) Signal Transduction Intracellular signaling by second messengers PIP3 activates AKT signaling PTEN Regulation Regulation of PTEN gene transcription 2 genes	CAMK2B Gene Information Basic Information Ensembl ID: ENSG00000058404 Description: calcium/calmodulin dependent protein kinase II beta [Source:HGNC Symbol;Acc:HGNC:1461] Location: 7:44210019-44334577 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: interneuron neuron Other: Transmission across Chemical Synapses Cytokine Signaling in Immune system Cellular responses to stress CD19 Gene Information Basic Information Ensembl ID: ENSG00000177455 Description: CD19 molecule [Source:HGNC Symbol;Acc:HGNC:1633] Location: 16:28931965-28939342 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: Naive B cell Follicular B cell Regulatory plasma cell cancer cell follicular cell plasmablast memory B cell fibroblast Other: Adaptive Immune System Innate Immune System Intracellular signaling by second messengers CD28 Gene Information Basic Information Ensembl ID: ENSG00000178562 Description: CD28 molecule [Source:HGNC Symbol;Acc:HGNC:1653] Location: 2:203706517-203739756 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell developing T cell Regulatory T cell CD8+ T cell CD4+ T cell T cell Specialized T cell Other: Adaptive Immune System Intracellular signaling by second messengers PI3K/AKT Signaling in Cancer CD86 Gene Information Basic Information Ensembl ID: ENSG00000114013 Description: CD86 molecule [Source:HGNC Symbol;Acc:HGNC:1705] Location: 3:122055362-122121139 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell macrophage phagocyte monocyte immune cell Other: Cytokine Signaling in Immune system Adaptive Immune System Intracellular signaling by second messengers EGF Gene Information Basic Information Ensembl ID: ENSG00000138798 Description: epidermal growth factor [Source:HGNC Symbol;Acc:HGNC:3229] Location: 4:109912883-110013766 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: skeletal muscle cell epithelial cell glial cell Other: Signaling by NOTCH Membrane Trafficking Cellular responses to stress EGFR Gene Information Basic Information Ensembl ID: ENSG00000146648 Description: epidermal growth factor receptor [Source:HGNC Symbol;Acc:HGNC:3236] Location: 7:55019017-55211628 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell endothelial cell trophoblast cell hepatocyte stem cell adipocyte fibroblast muscle cell stromal cell mesenchymal stem cell skeletal muscle cell cancer cell Other: Signaling by NOTCH Membrane Trafficking Signaling by GPCR ESR1 Gene Information Basic Information Ensembl ID: ENSG00000091831 Description: estrogen receptor 1 [Source:HGNC Symbol;Acc:HGNC:3467] Location: 6:151656691-152129619 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: fibroblast stromal cell plasma cell Other: Cellular responses to stress Post-translational protein modification RNA Polymerase II Transcription FGFR3 Gene Information Basic Information Ensembl ID: ENSG00000068078 Description: fibroblast growth factor receptor 3 [Source:HGNC Symbol;Acc:HGNC:3690] Location: 4:1793293-1808872 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stem cell astrocyte epithelial cell Other: MAPK family signaling cascades Intracellular signaling by second messengers Signaling by Receptor Tyrosine Kinases FLT3 Gene Information Basic Information Ensembl ID: ENSG00000122025 Description: fms related receptor tyrosine kinase 3 [Source:HGNC Symbol;Acc:HGNC:3765] Location: 13:28003274-28100592 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell Other: MAPK family signaling cascades Cytokine Signaling in Immune system Intracellular signaling by second messengers HGF Gene Information Basic Information Ensembl ID: ENSG00000019991 Description: hepatocyte growth factor [Source:HGNC Symbol;Acc:HGNC:4893] Location: 7:81699010-81770438 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stellate cell fibroblast stromal cell bone cell Other: Cytokine Signaling in Immune system MAPK family signaling cascades Platelet activation, signaling and aggregation IL1RL1 Gene Information Basic Information Ensembl ID: ENSG00000115602 Description: interleukin 1 receptor like 1 [Source:HGNC Symbol;Acc:HGNC:5998] Location: 2:102311502-102352037 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell endothelial cell mast cell lymphocyte Other: Cytokine Signaling in Immune system Intracellular signaling by second messengers KIT Gene Information Basic Information Ensembl ID: ENSG00000157404 Description: KIT proto-oncogene%2C receptor tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:6342] Location: 4:54657267-54740783 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell intercalated cell tuft cell brush cell mast cell progenitor cell stem cell melanocyte Specialized T cell hematopoietic progenitor cell hematopoietic cell cancer stem cell stromal cell interstitial cell Other: MAPK family signaling cascades RNA Polymerase II Transcription Intracellular signaling by second messengers LCK Gene Information Basic Information Ensembl ID: ENSG00000182866 Description: LCK proto-oncogene%2C Src family tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:6524] Location: 1:32251244-32286165 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell natural killer cell CD8+ T cell developing T cell T cell lymphocyte Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System MECOM Gene Information Basic Information Ensembl ID: ENSG00000085276 Description: MDS1 and EVI1 complex locus [Source:HGNC Symbol;Acc:HGNC:3498] Location: 3:169083499-169663775 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte epithelial cell goblet cell stem cell fibroblast secretory cell progenitor cell Other: Chromatin modifying enzymes Intracellular signaling by second messengers Kidney development MET Gene Information Basic Information Ensembl ID: ENSG00000105976 Description: MET proto-oncogene%2C receptor tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:7029] Location: 7:116672196-116798377 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell pancreatic cell melanocyte Other: MAPK family signaling cascades RNA Polymerase II Transcription Intracellular signaling by second messengers PDGFRA Gene Information Basic Information Ensembl ID: ENSG00000134853 Description: platelet derived growth factor receptor alpha [Source:HGNC Symbol;Acc:HGNC:8803] Location: 4:54229280-54298245 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: fibroblast pericyte stellate cell stem cell embryonic cell stromal cell smooth muscle cell oligodendrocyte precursor cell epithelial cell oligodendrocyte progenitor cell mesodermal cell valve interstitial cell Other: MAPK family signaling cascades Intracellular signaling by second messengers Signaling by Receptor Tyrosine Kinases PDGFRB Gene Information Basic Information Ensembl ID: ENSG00000113721 Description: platelet derived growth factor receptor beta [Source:HGNC Symbol;Acc:HGNC:8804] Location: 5:150113839-150155872 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: smooth muscle cell stellate cell endothelial cell pericyte fibroblast stromal cell mural cell adipocyte neuron mesenchymal cell vascular cell Other: MAPK family signaling cascades Intracellular signaling by second messengers Signaling by Receptor Tyrosine Kinases PPARG Gene Information Basic Information Ensembl ID: ENSG00000132170 Description: peroxisome proliferator activated receptor gamma [Source:HGNC Symbol;Acc:HGNC:9236] Location: 3:12287368-12434356 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte epithelial cell stem cell phagocyte adipocyte macrophage tuft cell Other: Epigenetic regulation of gene expression Metabolism of lipids Post-translational protein modification PPP2R5C Gene Information Basic Information Ensembl ID: ENSG00000078304 Description: protein phosphatase 2 regulatory subunit B'gamma [Source:HGNC Symbol;Acc:HGNC:9311] Location: 14:101761709-101927989 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell natural killer cell CD8+ T cell developing T cell Specialized T cell CD4+ T cell T cell Other: Adaptive Immune System Signaling by WNT Platelet homeostasis TGFA Gene Information Basic Information Ensembl ID: ENSG00000163235 Description: transforming growth factor alpha [Source:HGNC Symbol;Acc:HGNC:11765] Location: 2:70447284-70554193 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Membrane Trafficking MAPK family signaling cascades Post-translational protein modification
Ion channel transport Pathway Hierarchies & Genes TRP channels (6 genes) Transport of small molecules Ion channel transport 1 genes Stimuli-sensing channels 4 genes TRP channels 1 genes Stimuli-sensing channels (1 genes) Transport of small molecules Ion channel transport Stimuli-sensing channels 1 genes	ATP6V0D2 Gene Information Basic Information Ensembl ID: ENSG00000147614 Description: ATPase H+ transporting V0 subunit d2 [Source:HGNC Symbol;Acc:HGNC:18266] Location: 8:85987323-86154225 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: kidney cell osteoclast Other: Innate Immune System Cellular responses to stress Signaling by Receptor Tyrosine Kinases BEST4 Gene Information Basic Information Ensembl ID: ENSG00000142959 Description: bestrophin 4 [Source:HGNC Symbol;Acc:HGNC:17106] Location: 1:44781836-44788170 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell bche cell Other: Ion channel transport CAMK2B Gene Information Basic Information Ensembl ID: ENSG00000058404 Description: calcium/calmodulin dependent protein kinase II beta [Source:HGNC Symbol;Acc:HGNC:1461] Location: 7:44210019-44334577 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: interneuron neuron Other: Transmission across Chemical Synapses Cytokine Signaling in Immune system Cellular responses to stress CLCA4 Gene Information Basic Information Ensembl ID: ENSG00000016602 Description: chloride channel accessory 4 [Source:HGNC Symbol;Acc:HGNC:2018] Location: 1:86547078-86580754 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stem cell enterocyte M cell Other: Ion channel transport SCNN1G Gene Information Basic Information Ensembl ID: ENSG00000166828 Description: sodium channel epithelial 1 subunit gamma [Source:HGNC Symbol;Acc:HGNC:10602] Location: 16:23182745-23216883 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell glial cell Other: Sensory perception of taste Ion channel transport STOM Gene Information Basic Information Ensembl ID: ENSG00000148175 Description: stomatin [Source:HGNC Symbol;Acc:HGNC:3383] Location: 9:121338987-121370304 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Innate Immune System Signaling by Rho GTPases, Miro GTPases and RHOBTB3 Ion channel transport TRPM6 Gene Information Basic Information Ensembl ID: ENSG00000119121 Description: transient receptor potential cation channel subfamily M member 6 [Source:HGNC Symbol;Acc:HGNC:17995] Location: 9:74722495-74888094 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell epithelial cell basophil Other: Ion channel transport
Iron uptake and transport Pathway Hierarchies & Genes Transferrin endocytosis and recycling (1 genes) Transport of small molecules Iron uptake and transport Transferrin endocytosis and recycling 1 genes	ATP6V0D2 Gene Information Basic Information Ensembl ID: ENSG00000147614 Description: ATPase H+ transporting V0 subunit d2 [Source:HGNC Symbol;Acc:HGNC:18266] Location: 8:85987323-86154225 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: kidney cell osteoclast Other: Innate Immune System Cellular responses to stress Signaling by Receptor Tyrosine Kinases
Keratinization Pathway Hierarchies & Genes Formation of the cornified envelope (4 genes) Developmental Biology Keratinization Formation of the cornified envelope 4 genes	DSP Gene Information Basic Information Ensembl ID: ENSG00000096696 Description: desmoplakin [Source:HGNC Symbol;Acc:HGNC:3052] Location: 6:7541326-7586717 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell neuron endocrine cell trophoblast cell enteroendocrine cell thymic epithelial cell stem cell Other: Signaling by Rho GTPases, Miro GTPases and RHOBTB3 Apoptosis Innate Immune System KRT23 Gene Information Basic Information Ensembl ID: ENSG00000108244 Description: keratin 23 [Source:HGNC Symbol;Acc:HGNC:6438] Location: 17:40922700-40937646 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell trophoblast cell stem cell Other: Keratinization Developmental Cell Lineages KRT7 Gene Information Basic Information Ensembl ID: ENSG00000135480 Description: keratin 7 [Source:HGNC Symbol;Acc:HGNC:6445] Location: 12:52232520-52252186 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: kidney cell trophoblast cell epithelial cell stem cell goblet cell fibroblast secretory cell acinar cell M cell hepatocyte cancer cell ductal cell embryonic cell progenitor cell Other: Keratinization Developmental Cell Lineages PERP Gene Information Basic Information Ensembl ID: ENSG00000112378 Description: p53 apoptosis effector related to PMP22 [Source:HGNC Symbol;Acc:HGNC:17637] Location: 6:138088505-138107419 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Keratinization RNA Polymerase II Transcription
Kidney development Pathway Hierarchies & Genes Nephron development (4 genes) Developmental Biology Kidney development Formation of the nephric duct 3 genes Nephron development 1 genes Nephron development (3 genes) Developmental Biology Kidney development Nephron development 3 genes	CTNNB1 Gene Information Basic Information Ensembl ID: ENSG00000168036 Description: catenin beta 1 [Source:HGNC Symbol;Acc:HGNC:2514] Location: 3:41194741-41260096 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell endothelial cell epithelial cell stem cell phagocyte adrenal cortical cell fibroblast monocyte Specialized T cell melanocyte M cell Other: Apoptosis Innate Immune System Signaling by WNT GATA3 Gene Information Basic Information Ensembl ID: ENSG00000107485 Description: GATA binding protein 3 [Source:HGNC Symbol;Acc:HGNC:4172] Location: 10:8045378-8075198 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell epithelial cell trophoblast cell developing T cell Regulatory T cell phagocyte natural killer cell CD4+ T cell lymphocyte innate lymphoid cell T helper cell neuron Other: Cytokine Signaling in Immune system Post-translational protein modification RNA Polymerase II Transcription IRX2 Gene Information Basic Information Ensembl ID: ENSG00000170561 Description: iroquois homeobox 2 [Source:HGNC Symbol;Acc:HGNC:14359] Location: 5:2745845-2751677 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stem cell epithelial cell pancreatic cell Other: Kidney development JAG1 Gene Information Basic Information Ensembl ID: ENSG00000101384 Description: jagged canonical Notch ligand 1 [Source:HGNC Symbol;Acc:HGNC:6188] Location: 20:10637684-10673999 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte smooth muscle cell mural cell Other: Signaling by NOTCH RNA Polymerase II Transcription Signaling by Rho GTPases, Miro GTPases and RHOBTB3 LHX1 Gene Information Basic Information Ensembl ID: ENSG00000273706 Description: LIM homeobox 1 [Source:HGNC Symbol;Acc:HGNC:6593] Location: 17:36936785-36944612 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell retina cell Other: Gastrulation Kidney development MECOM Gene Information Basic Information Ensembl ID: ENSG00000085276 Description: MDS1 and EVI1 complex locus [Source:HGNC Symbol;Acc:HGNC:3498] Location: 3:169083499-169663775 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte epithelial cell goblet cell stem cell fibroblast secretory cell progenitor cell Other: Chromatin modifying enzymes Intracellular signaling by second messengers Kidney development WT1 Gene Information Basic Information Ensembl ID: ENSG00000184937 Description: WT1 transcription factor [Source:HGNC Symbol;Acc:HGNC:12796] Location: 11:32387775-32435564 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell stromal cell podocyte mesothelial cell Other: Cell junction organization Transcriptional regulation of testis differentiation Kidney development
Laminin interactions Pathway Hierarchies & Genes Laminin interactions (6 genes) Extracellular matrix organization Laminin interactions 6 genes	COL4A1 Gene Information Basic Information Ensembl ID: ENSG00000187498 Description: collagen type IV alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2202] Location: 13:110148963-110307202 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte stem cell fibroblast stromal cell smooth muscle cell adipocyte melanocyte basal cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL4A2 Gene Information Basic Information Ensembl ID: ENSG00000134871 Description: collagen type IV alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2203] Location: 13:110305812-110513209 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte epithelial cell stem cell adipocyte fibroblast glial cell stromal cell smooth muscle cell melanocyte Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation HSPG2 Gene Information Basic Information Ensembl ID: ENSG00000142798 Description: heparan sulfate proteoglycan 2 [Source:HGNC Symbol;Acc:HGNC:5273] Location: 1:21822244-21937310 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron glial cell adipocyte Other: Degradation of the extracellular matrix Metabolism of vitamins and cofactors Integrin cell surface interactions ITGA1 Gene Information Basic Information Ensembl ID: ENSG00000213949 Description: integrin subunit alpha 1 [Source:HGNC Symbol;Acc:HGNC:6134] Location: 5:52787916-52959209 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte developing T cell epithelial cell fibroblast glial cell stromal cell Specialized T cell smooth muscle cell CD8+ T cell T cell mesenchymal cell lymphocyte beta cell memory T cell Other: Integrin cell surface interactions Laminin interactions Smooth Muscle Contraction ITGA6 Gene Information Basic Information Ensembl ID: ENSG00000091409 Description: integrin subunit alpha 6 [Source:HGNC Symbol;Acc:HGNC:6142] Location: 2:172234216-172506459 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell goblet cell kidney cell pericyte epithelial cell embryonic cell stem cell glial cell stromal cell Other: Collagen formation Cell surface interactions at the vascular wall Integrin cell surface interactions LAMA2 Gene Information Basic Information Ensembl ID: ENSG00000196569 Description: laminin subunit alpha 2 [Source:HGNC Symbol;Acc:HGNC:6482] Location: 6:128883138-129516566 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: bergmann glial cell endothelial cell fibroblast cardiomyocyte pericyte skeletal muscle cell stem cell stromal cell glial cell Other: Laminin interactions Non-integrin membrane-ECM interactions ECM proteoglycans
Late endosomal microautophagy Pathway Hierarchies & Genes Late endosomal microautophagy (1 genes) Autophagy Late endosomal microautophagy 1 genes	CFTR Gene Information Basic Information Ensembl ID: ENSG00000001626 Description: CF transmembrane conductance regulator [Source:HGNC Symbol;Acc:HGNC:1884] Location: 7:117287120-117715971 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stem cell enterocyte epithelial cell progenitor cell ionocyte tuft cell monocyte hepatocyte Other: Macroautophagy Membrane Trafficking ABC-family proteins mediated transport
MAPK family signaling cascades Pathway Hierarchies & Genes MAPK6/MAPK4 signaling (1 genes) Signal Transduction MAPK family signaling cascades MAPK1/MAPK3 signaling RAF-independent MAPK1/3 activation MAPK3 (ERK1) activation MAPK6/MAPK4 signaling 1 genes MAP2K and MAPK activation (3 genes) Signal Transduction MAPK family signaling cascades MAPK1/MAPK3 signaling RAF/MAP kinase cascade MAP2K and MAPK activation 3 genes RAF activation (2 genes) Signal Transduction MAPK family signaling cascades MAPK1/MAPK3 signaling RAF/MAP kinase cascade RAF activation 2 genes RAF/MAP kinase cascade (16 genes) Signal Transduction MAPK family signaling cascades MAPK1/MAPK3 signaling RAF/MAP kinase cascade 16 genes MAPK6/MAPK4 signaling (2 genes) Signal Transduction MAPK family signaling cascades MAPK6/MAPK4 signaling 2 genes	ANGPT1 Gene Information Basic Information Ensembl ID: ENSG00000154188 Description: angiopoietin 1 [Source:HGNC Symbol;Acc:HGNC:484] Location: 8:107249482-107498055 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: fibroblast pericyte stromal cell smooth muscle cell epithelial cell megakaryocyte Other: MAPK family signaling cascades Cell surface interactions at the vascular wall CAMK2B Gene Information Basic Information Ensembl ID: ENSG00000058404 Description: calcium/calmodulin dependent protein kinase II beta [Source:HGNC Symbol;Acc:HGNC:1461] Location: 7:44210019-44334577 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: interneuron neuron Other: Transmission across Chemical Synapses Cytokine Signaling in Immune system Cellular responses to stress CDK1 Gene Information Basic Information Ensembl ID: ENSG00000170312 Description: cyclin dependent kinase 1 [Source:HGNC Symbol;Acc:HGNC:1722] Location: 10:60778331-60794852 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: progenitor cell Other: Cytokine Signaling in Immune system Cilium Assembly MAPK family signaling cascades EGF Gene Information Basic Information Ensembl ID: ENSG00000138798 Description: epidermal growth factor [Source:HGNC Symbol;Acc:HGNC:3229] Location: 4:109912883-110013766 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: skeletal muscle cell epithelial cell glial cell Other: Signaling by NOTCH Membrane Trafficking Cellular responses to stress EGFR Gene Information Basic Information Ensembl ID: ENSG00000146648 Description: epidermal growth factor receptor [Source:HGNC Symbol;Acc:HGNC:3236] Location: 7:55019017-55211628 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell endothelial cell trophoblast cell hepatocyte stem cell adipocyte fibroblast muscle cell stromal cell mesenchymal stem cell skeletal muscle cell cancer cell Other: Signaling by NOTCH Membrane Trafficking Signaling by GPCR FGFR3 Gene Information Basic Information Ensembl ID: ENSG00000068078 Description: fibroblast growth factor receptor 3 [Source:HGNC Symbol;Acc:HGNC:3690] Location: 4:1793293-1808872 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stem cell astrocyte epithelial cell Other: MAPK family signaling cascades Intracellular signaling by second messengers Signaling by Receptor Tyrosine Kinases FLT3 Gene Information Basic Information Ensembl ID: ENSG00000122025 Description: fms related receptor tyrosine kinase 3 [Source:HGNC Symbol;Acc:HGNC:3765] Location: 13:28003274-28100592 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell Other: MAPK family signaling cascades Cytokine Signaling in Immune system Intracellular signaling by second messengers HGF Gene Information Basic Information Ensembl ID: ENSG00000019991 Description: hepatocyte growth factor [Source:HGNC Symbol;Acc:HGNC:4893] Location: 7:81699010-81770438 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stellate cell fibroblast stromal cell bone cell Other: Cytokine Signaling in Immune system MAPK family signaling cascades Platelet activation, signaling and aggregation IL2RA Gene Information Basic Information Ensembl ID: ENSG00000134460 Description: interleukin 2 receptor subunit alpha [Source:HGNC Symbol;Acc:HGNC:6008] Location: 10:6010689-6062370 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: Regulatory T cell macrophage dendritic cell developing T cell B cell mast cell CD8+ T cell T cell Follicular B cell Other: Cytokine Signaling in Immune system MAPK family signaling cascades RNA Polymerase II Transcription IL2RB Gene Information Basic Information Ensembl ID: ENSG00000100385 Description: interleukin 2 receptor subunit beta [Source:HGNC Symbol;Acc:HGNC:6009] Location: 22:37118666-37175118 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: natural killer cell developing T cell T cell Specialized T cell Other: Cytokine Signaling in Immune system MAPK family signaling cascades IL3RA Gene Information Basic Information Ensembl ID: ENSG00000185291 Description: interleukin 3 receptor subunit alpha [Source:HGNC Symbol;Acc:HGNC:6012] Location: X:1336616-1382689 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell enteroendocrine cell endothelial cell dendritic cell progenitor bone cell basophil antigen presenting cell plasma cell Other: Cytokine Signaling in Immune system MAPK family signaling cascades ITGA2B Gene Information Basic Information Ensembl ID: ENSG00000005961 Description: integrin subunit alpha 2b [Source:HGNC Symbol;Acc:HGNC:6138] Location: 17:44372180-44389649 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: myeloid cell basophil platelet progenitor cell megakaryocyte Other: Integrin cell surface interactions ECM proteoglycans Integrin signaling ITGB3 Gene Information Basic Information Ensembl ID: ENSG00000259207 Description: integrin subunit beta 3 [Source:HGNC Symbol;Acc:HGNC:6156] Location: 17:47253827-47313743 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: platelet epithelial cell monocyte Other: ECM proteoglycans Elastic fibre formation Cell surface interactions at the vascular wall KIT Gene Information Basic Information Ensembl ID: ENSG00000157404 Description: KIT proto-oncogene%2C receptor tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:6342] Location: 4:54657267-54740783 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell intercalated cell tuft cell brush cell mast cell progenitor cell stem cell melanocyte Specialized T cell hematopoietic progenitor cell hematopoietic cell cancer stem cell stromal cell interstitial cell Other: MAPK family signaling cascades RNA Polymerase II Transcription Intracellular signaling by second messengers MET Gene Information Basic Information Ensembl ID: ENSG00000105976 Description: MET proto-oncogene%2C receptor tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:7029] Location: 7:116672196-116798377 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell pancreatic cell melanocyte Other: MAPK family signaling cascades RNA Polymerase II Transcription Intracellular signaling by second messengers MMP2 Gene Information Basic Information Ensembl ID: ENSG00000087245 Description: matrix metallopeptidase 2 [Source:HGNC Symbol;Acc:HGNC:7166] Location: 16:55389700-55506691 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: mesenchymal cell smooth muscle cell Other: Cytokine Signaling in Immune system Degradation of the extracellular matrix Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) MYC Gene Information Basic Information Ensembl ID: ENSG00000136997 Description: MYC proto-oncogene%2C bHLH transcription factor [Source:HGNC Symbol;Acc:HGNC:7553] Location: 8:127735434-127742951 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pericyte epithelial cell fibroblast stromal cell smooth muscle cell hematopoietic progenitor cell endothelial cell stem cell erythroblast muscle cell progenitor cell transient amplifying cell cancer stem cell B cell erythroid lineage cell Other: Cytokine Signaling in Immune system Signaling by NOTCH Signaling by WNT NCAM1 Gene Information Basic Information Ensembl ID: ENSG00000149294 Description: neural cell adhesion molecule 1 [Source:HGNC Symbol;Acc:HGNC:7656] Location: 11:112961275-113278436 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron natural killer cell interneuron pericyte T cell glial cell smooth muscle cell motor neuron Specialized T cell innate lymphoid cell chromaffin cell epithelial cell neuroendocrine cell lymphocyte cancer stem cell progenitor cell stem cell mesenchymal stem cell immune cell cancer cell autonomic neuron Other: ECM proteoglycans Cytokine Signaling in Immune system MAPK family signaling cascades PDGFRA Gene Information Basic Information Ensembl ID: ENSG00000134853 Description: platelet derived growth factor receptor alpha [Source:HGNC Symbol;Acc:HGNC:8803] Location: 4:54229280-54298245 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: fibroblast pericyte stellate cell stem cell embryonic cell stromal cell smooth muscle cell oligodendrocyte precursor cell epithelial cell oligodendrocyte progenitor cell mesodermal cell valve interstitial cell Other: MAPK family signaling cascades Intracellular signaling by second messengers Signaling by Receptor Tyrosine Kinases PDGFRB Gene Information Basic Information Ensembl ID: ENSG00000113721 Description: platelet derived growth factor receptor beta [Source:HGNC Symbol;Acc:HGNC:8804] Location: 5:150113839-150155872 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: smooth muscle cell stellate cell endothelial cell pericyte fibroblast stromal cell mural cell adipocyte neuron mesenchymal cell vascular cell Other: MAPK family signaling cascades Intracellular signaling by second messengers Signaling by Receptor Tyrosine Kinases PPP2R5C Gene Information Basic Information Ensembl ID: ENSG00000078304 Description: protein phosphatase 2 regulatory subunit B'gamma [Source:HGNC Symbol;Acc:HGNC:9311] Location: 14:101761709-101927989 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell natural killer cell CD8+ T cell developing T cell Specialized T cell CD4+ T cell T cell Other: Adaptive Immune System Signaling by WNT Platelet homeostasis SPTBN1 Gene Information Basic Information Ensembl ID: ENSG00000115306 Description: spectrin beta%2C non-erythrocytic 1 [Source:HGNC Symbol;Acc:HGNC:11275] Location: 2:54456327-54671446 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron adipocyte glial cell stromal cell epithelial cell schwann cell Other: Membrane Trafficking Nephrin family interactions MAPK family signaling cascades TGFA Gene Information Basic Information Ensembl ID: ENSG00000163235 Description: transforming growth factor alpha [Source:HGNC Symbol;Acc:HGNC:11765] Location: 2:70447284-70554193 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Membrane Trafficking MAPK family signaling cascades Post-translational protein modification VWF Gene Information Basic Information Ensembl ID: ENSG00000110799 Description: von Willebrand factor [Source:HGNC Symbol;Acc:HGNC:12726] Location: 12:5948877-6124770 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte epithelial cell vascular cell Other: Formation of Fibrin Clot (Clotting Cascade) Integrin cell surface interactions Integrin signaling
MITF-M-regulated melanocyte development Pathway Hierarchies & Genes Regulation of MITF-M-dependent genes involved in extracellular matrix, focal adhesion and epithelial-to-mesenchymal transition (7 genes) Developmental Biology MITF-M-regulated melanocyte development Transcriptional and post-translational regulation of MITF-M expression and activity 5 genes MITF-M-dependent gene expression Regulation of MITF-M-dependent genes involved in extracellular matrix, focal adhesion and epithelial-to-mesenchymal transition 2 genes Transcriptional and post-translational regulation of MITF-M expression and activity (5 genes) Developmental Biology MITF-M-regulated melanocyte development MITF-M-dependent gene expression Regulation of MITF-M-dependent genes involved in pigmentation 2 genes Transcriptional and post-translational regulation of MITF-M expression and activity 3 genes Regulation of MITF-M-dependent genes involved in cell cycle and proliferation (1 genes) Developmental Biology MITF-M-regulated melanocyte development MITF-M-dependent gene expression Regulation of MITF-M-dependent genes involved in cell cycle and proliferation 1 genes	CDH1 Gene Information Basic Information Ensembl ID: ENSG00000039068 Description: cadherin 1 [Source:HGNC Symbol;Acc:HGNC:1748] Location: 16:68737292-68835537 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: goblet cell epithelial cell pneumocyte stem cell secretory cell tuft cell paneth cell ciliated cell neuroendocrine cell brush cell basal cell serous cell deuterosomal cell club Other: Apoptosis Adaptive Immune System Degradation of the extracellular matrix CTNNB1 Gene Information Basic Information Ensembl ID: ENSG00000168036 Description: catenin beta 1 [Source:HGNC Symbol;Acc:HGNC:2514] Location: 3:41194741-41260096 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell endothelial cell epithelial cell stem cell phagocyte adrenal cortical cell fibroblast monocyte Specialized T cell melanocyte M cell Other: Apoptosis Innate Immune System Signaling by WNT EDNRB Gene Information Basic Information Ensembl ID: ENSG00000136160 Description: endothelin receptor type B [Source:HGNC Symbol;Acc:HGNC:3180] Location: 13:77895481-77975529 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron pericyte stem cell endothelial cell glial cell stromal cell smooth muscle cell oligodendrocyte precursor cell schwann cell epithelial cell astrocyte melanocyte pneumocyte Other: Signaling by GPCR MITF-M-regulated melanocyte development IRF4 Gene Information Basic Information Ensembl ID: ENSG00000137265 Description: interferon regulatory factor 4 [Source:HGNC Symbol;Acc:HGNC:6119] Location: 6:391739-411443 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: Naive B cell dendritic cell plasma cell antigen presenting cell lymphocyte plasmablast Other: Cytokine Signaling in Immune system MITF-M-regulated melanocyte development Signaling by ALK in cancer KIT Gene Information Basic Information Ensembl ID: ENSG00000157404 Description: KIT proto-oncogene%2C receptor tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:6342] Location: 4:54657267-54740783 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell intercalated cell tuft cell brush cell mast cell progenitor cell stem cell melanocyte Specialized T cell hematopoietic progenitor cell hematopoietic cell cancer stem cell stromal cell interstitial cell Other: MAPK family signaling cascades RNA Polymerase II Transcription Intracellular signaling by second messengers LEF1 Gene Information Basic Information Ensembl ID: ENSG00000138795 Description: lymphoid enhancer binding factor 1 [Source:HGNC Symbol;Acc:HGNC:6551] Location: 4:108047545-108168956 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell developing T cell T cell Regulatory T cell Naive B cell CD4+ T cell lymphoid progenitor cell innate lymphoid cell Other: Signaling by WNT RNA Polymerase II Transcription Transcriptional regulation of granulopoiesis MET Gene Information Basic Information Ensembl ID: ENSG00000105976 Description: MET proto-oncogene%2C receptor tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:7029] Location: 7:116672196-116798377 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell pancreatic cell melanocyte Other: MAPK family signaling cascades RNA Polymerase II Transcription Intracellular signaling by second messengers SOX10 Gene Information Basic Information Ensembl ID: ENSG00000100146 Description: SRY-box transcription factor 10 [Source:HGNC Symbol;Acc:HGNC:11190] Location: 22:37970686-37987422 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neural crest cell neural stem cell schwann cell Other: Cell junction organization Nervous system development MITF-M-regulated melanocyte development SOX2 Gene Information Basic Information Ensembl ID: ENSG00000181449 Description: SRY-box transcription factor 2 [Source:HGNC Symbol;Acc:HGNC:11195] Location: 3:181711925-181714436 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell pericyte progenitor cell embryonic cell fibroblast glial cell neural crest cell stem cell cancer stem cell ectodermal cell basal cell Other: Cytokine Signaling in Immune system Signaling by WNT Transcriptional regulation of pluripotent stem cells SOX9 Gene Information Basic Information Ensembl ID: ENSG00000125398 Description: SRY-box transcription factor 9 [Source:HGNC Symbol;Acc:HGNC:11204] Location: 17:72121020-72126416 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stem cell glial cell stromal cell tuft cell fibroblast ionocyte epithelial cell M cell chondrocyte cancer stem cell progenitor cell ductal cell Other: Signaling by WNT RNA Polymerase II Transcription Transcriptional regulation of testis differentiation SYTL2 Gene Information Basic Information Ensembl ID: ENSG00000137501 Description: synaptotagmin like 2 [Source:HGNC Symbol;Acc:HGNC:15585] Location: 11:85694224-85811159 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: goblet cell pericyte developing T cell Specialized T cell smooth muscle cell mast cell CD8+ T cell T cell muscle cell epithelial cell Other: MITF-M-regulated melanocyte development TBX3 Gene Information Basic Information Ensembl ID: ENSG00000135111 Description: T-box transcription factor 3 [Source:HGNC Symbol;Acc:HGNC:11602] Location: 12:114670255-114684175 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron epithelial cell phagocyte fibroblast pericyte Other: MITF-M-regulated melanocyte development TNFSF11 Gene Information Basic Information Ensembl ID: ENSG00000120659 Description: TNF superfamily member 11 [Source:HGNC Symbol;Acc:HGNC:11926] Location: 13:42562736-42608013 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stem cell Other: Cytokine Signaling in Immune system MITF-M-regulated melanocyte development
Macroautophagy Pathway Hierarchies & Genes Aggrephagy (1 genes) Autophagy Macroautophagy Selective autophagy Aggrephagy 1 genes Pexophagy (1 genes) Autophagy Macroautophagy Selective autophagy Pexophagy 1 genes	CFTR Gene Information Basic Information Ensembl ID: ENSG00000001626 Description: CF transmembrane conductance regulator [Source:HGNC Symbol;Acc:HGNC:1884] Location: 7:117287120-117715971 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stem cell enterocyte epithelial cell progenitor cell ionocyte tuft cell monocyte hepatocyte Other: Macroautophagy Membrane Trafficking ABC-family proteins mediated transport EPAS1 Gene Information Basic Information Ensembl ID: ENSG00000116016 Description: endothelial PAS domain protein 1 [Source:HGNC Symbol;Acc:HGNC:3374] Location: 2:46293667-46386697 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte trophoblast cell smooth muscle cell innate lymphoid cell Other: Macroautophagy Cellular responses to stress Transcriptional regulation of pluripotent stem cells
Maternal to zygotic transition (MZT) Pathway Hierarchies & Genes M-decay: degradation of maternal mRNAs by maternally stored factors (1 genes) Developmental Biology Maternal to zygotic transition (MZT) M-decay: degradation of maternal mRNAs by maternally stored factors 1 genes	CNOT6L Gene Information Basic Information Ensembl ID: ENSG00000138767 Description: CCR4-NOT transcription complex subunit 6 like [Source:HGNC Symbol;Acc:HGNC:18042] Location: 4:77713387-77819615 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell endothelial cell natural killer cell CD8+ T cell developing T cell Regulatory T cell T cell Specialized T cell CD4+ T cell lymphoid progenitor cell Other: Deadenylation-dependent mRNA decay RNA Polymerase II Transcription Maternal to zygotic transition (MZT)
Membrane Trafficking Pathway Hierarchies & Genes Cargo recognition for clathrin-mediated endocytosis (1 genes) Vesicle-mediated transport Membrane Trafficking Gap junction trafficking and regulation Gap junction trafficking Gap junction degradation Formation of annular gap junctions Clathrin-mediated endocytosis Cargo recognition for clathrin-mediated endocytosis 1 genes Cargo recognition for clathrin-mediated endocytosis (1 genes) Vesicle-mediated transport Membrane Trafficking ER to Golgi Anterograde Transport COPII-mediated vesicle transport Clathrin-mediated endocytosis Cargo recognition for clathrin-mediated endocytosis 1 genes Gap junction assembly (1 genes) Vesicle-mediated transport Membrane Trafficking Gap junction trafficking and regulation Gap junction trafficking Gap junction assembly 1 genes COPI-mediated anterograde transport (3 genes) Vesicle-mediated transport Membrane Trafficking ER to Golgi Anterograde Transport COPI-mediated anterograde transport 3 genes Cargo recognition for clathrin-mediated endocytosis (5 genes) Vesicle-mediated transport Membrane Trafficking Clathrin-mediated endocytosis Cargo recognition for clathrin-mediated endocytosis 5 genes Lysosome Vesicle Biogenesis (1 genes) Vesicle-mediated transport Membrane Trafficking trans-Golgi Network Vesicle Budding Lysosome Vesicle Biogenesis 1 genes Translocation of SLC2A4 (GLUT4) to the plasma membrane (1 genes) Vesicle-mediated transport Membrane Trafficking Translocation of SLC2A4 (GLUT4) to the plasma membrane 1 genes	ANK3 Gene Information Basic Information Ensembl ID: ENSG00000151150 Description: ankyrin 3 [Source:HGNC Symbol;Acc:HGNC:494] Location: 10:60026298-60733490 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell neuron interneuron developing T cell enteroendocrine cell T cell Naive B cell trophoblast cell pneumocyte glial cell CD4+ T cell schwann cell Other: Membrane Trafficking Cell junction organization Post-translational protein modification APP Gene Information Basic Information Ensembl ID: ENSG00000142192 Description: amyloid beta precursor protein [Source:HGNC Symbol;Acc:HGNC:620] Location: 21:25880535-26171128 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron interneuron dendritic cell epithelial cell stem cell fibroblast Other: Cytokine Signaling in Immune system Innate Immune System Membrane Trafficking CD4 Gene Information Basic Information Ensembl ID: ENSG00000010610 Description: CD4 molecule [Source:HGNC Symbol;Acc:HGNC:1678] Location: 12:6786858-6820799 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell dendritic cell phagocyte CD4+ T cell antigen presenting cell hematopoietic cell monocyte macrophage developing T cell Regulatory T cell T cell memory T cell Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System CD55 Gene Information Basic Information Ensembl ID: ENSG00000196352 Description: CD55 molecule (Cromer blood group) [Source:HGNC Symbol;Acc:HGNC:2665] Location: 1:207321519-207386804 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell dendritic cell trophoblast cell stromal cell Specialized T cell goblet cell kidney cell monocyte granulocyte T cell epithelial cell Naive B cell neutrophil Other: Innate Immune System Membrane Trafficking Signaling by GPCR CFTR Gene Information Basic Information Ensembl ID: ENSG00000001626 Description: CF transmembrane conductance regulator [Source:HGNC Symbol;Acc:HGNC:1884] Location: 7:117287120-117715971 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stem cell enterocyte epithelial cell progenitor cell ionocyte tuft cell monocyte hepatocyte Other: Macroautophagy Membrane Trafficking ABC-family proteins mediated transport DAB2 Gene Information Basic Information Ensembl ID: ENSG00000153071 Description: DAB adaptor protein 2 [Source:HGNC Symbol;Acc:HGNC:2662] Location: 5:39371675-39462300 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell epithelial cell macrophage phagocyte trophoblast cell platelet antigen presenting cell innate lymphoid cell Other: Membrane Trafficking EGF Gene Information Basic Information Ensembl ID: ENSG00000138798 Description: epidermal growth factor [Source:HGNC Symbol;Acc:HGNC:3229] Location: 4:109912883-110013766 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: skeletal muscle cell epithelial cell glial cell Other: Signaling by NOTCH Membrane Trafficking Cellular responses to stress EGFR Gene Information Basic Information Ensembl ID: ENSG00000146648 Description: epidermal growth factor receptor [Source:HGNC Symbol;Acc:HGNC:3236] Location: 7:55019017-55211628 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell endothelial cell trophoblast cell hepatocyte stem cell adipocyte fibroblast muscle cell stromal cell mesenchymal stem cell skeletal muscle cell cancer cell Other: Signaling by NOTCH Membrane Trafficking Signaling by GPCR GJC1 Gene Information Basic Information Ensembl ID: ENSG00000182963 Description: gap junction protein gamma 1 [Source:HGNC Symbol;Acc:HGNC:4280] Location: 17:44798448-44830816 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pericyte smooth muscle cell mural cell Other: Transmission across Electrical Synapses Membrane Trafficking LRP2 Gene Information Basic Information Ensembl ID: ENSG00000081479 Description: LDL receptor related protein 2 [Source:HGNC Symbol;Acc:HGNC:6694] Location: 2:169127109-169362534 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell glial cell Other: Metabolism of vitamins and cofactors Membrane Trafficking Visual phototransduction SFN Gene Information Basic Information Ensembl ID: ENSG00000175793 Description: stratifin [Source:HGNC Symbol;Acc:HGNC:10773] Location: 1:26863149-26864456 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Apoptosis Membrane Trafficking Cell Cycle Checkpoints SPTBN1 Gene Information Basic Information Ensembl ID: ENSG00000115306 Description: spectrin beta%2C non-erythrocytic 1 [Source:HGNC Symbol;Acc:HGNC:11275] Location: 2:54456327-54671446 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron adipocyte glial cell stromal cell epithelial cell schwann cell Other: Membrane Trafficking Nephrin family interactions MAPK family signaling cascades TGFA Gene Information Basic Information Ensembl ID: ENSG00000163235 Description: transforming growth factor alpha [Source:HGNC Symbol;Acc:HGNC:11765] Location: 2:70447284-70554193 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Membrane Trafficking MAPK family signaling cascades Post-translational protein modification
Metabolism of amino acids and derivatives Pathway Hierarchies & Genes Methylation of MeSeH for excretion (1 genes) Metabolism Metabolism of amino acids and derivatives Selenoamino acid metabolism Methylation of MeSeH for excretion 1 genes Proline catabolism (1 genes) Metabolism Metabolism of amino acids and derivatives Glyoxylate metabolism and glycine degradation Proline catabolism 1 genes Creatine metabolism (1 genes) Metabolism Metabolism of amino acids and derivatives Creatine metabolism 1 genes Histidine catabolism (2 genes) Metabolism Metabolism of amino acids and derivatives Histidine catabolism 2 genes Lysine catabolism (1 genes) Metabolism Metabolism of amino acids and derivatives Lysine catabolism 1 genes Tryptophan catabolism (1 genes) Metabolism Metabolism of amino acids and derivatives Tryptophan catabolism 1 genes	CRYM Gene Information Basic Information Ensembl ID: ENSG00000103316 Description: crystallin mu [Source:HGNC Symbol;Acc:HGNC:2418] Location: 16:21238874-21303083 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron Other: Metabolism of amino acids and derivatives GATM Gene Information Basic Information Ensembl ID: ENSG00000171766 Description: glycine amidinotransferase [Source:HGNC Symbol;Acc:HGNC:4175] Location: 15:45361124-45402327 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: kidney cell Other: Metabolism of amino acids and derivatives HAL Gene Information Basic Information Ensembl ID: ENSG00000084110 Description: histidine ammonia-lyase [Source:HGNC Symbol;Acc:HGNC:4806] Location: 12:95972662-95996365 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: hepatocyte Other: Metabolism of amino acids and derivatives HDC Gene Information Basic Information Ensembl ID: ENSG00000140287 Description: histidine decarboxylase [Source:HGNC Symbol;Acc:HGNC:4855] Location: 15:50241947-50265965 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell mast cell eosinophil basophil Other: Metabolism of amino acids and derivatives IDO1 Gene Information Basic Information Ensembl ID: ENSG00000131203 Description: indoleamine 2%2C3-dioxygenase 1 [Source:HGNC Symbol;Acc:HGNC:6059] Location: 8:39902275-39928790 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell epithelial cell Other: Metabolism of amino acids and derivatives INMT Gene Information Basic Information Ensembl ID: ENSG00000241644 Description: indolethylamine N-methyltransferase [Source:HGNC Symbol;Acc:HGNC:6069] Location: 7:30697985-30757602 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: fibroblast epithelial cell smooth muscle cell endothelial cell Other: Metabolism of amino acids and derivatives PRODH2 Gene Information Basic Information Ensembl ID: ENSG00000250799 Description: proline dehydrogenase 2 [Source:HGNC Symbol;Acc:HGNC:17325] Location: 19:35799988-35813299 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Metabolism of amino acids and derivatives
Metabolism of carbohydrates and carbohydrate derivatives Pathway Hierarchies & Genes CS-GAG biosynthesis (1 genes) Metabolism Metabolism of carbohydrates and carbohydrate derivatives Glycosaminoglycan metabolism Chondroitin sulfate/dermatan sulfate metabolism CS-GAG biosynthesis 1 genes HS-GAG biosynthesis (2 genes) Metabolism Metabolism of carbohydrates and carbohydrate derivatives Glycosaminoglycan metabolism Heparan sulfate/heparin (HS-GAG) metabolism HS-GAG biosynthesis 2 genes Hyaluronan degradation (1 genes) Metabolism Metabolism of carbohydrates and carbohydrate derivatives Glycosaminoglycan metabolism Hyaluronan metabolism Hyaluronan degradation 1 genes Keratan sulfate biosynthesis (2 genes) Metabolism Metabolism of carbohydrates and carbohydrate derivatives Glycosaminoglycan metabolism Keratan sulfate/keratin metabolism Keratan sulfate biosynthesis 2 genes Transport and metabolism of PAPS (1 genes) Metabolism Metabolism of carbohydrates and carbohydrate derivatives Glycosaminoglycan metabolism Transport and metabolism of PAPS 1 genes	HS3ST3A1 Gene Information Basic Information Ensembl ID: ENSG00000153976 Description: heparan sulfate-glucosamine 3-sulfotransferase 3A1 [Source:HGNC Symbol;Acc:HGNC:5196] Location: 17:13494032-13601929 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stromal cell retina cell Other: Metabolism of carbohydrates and carbohydrate derivatives HSPG2 Gene Information Basic Information Ensembl ID: ENSG00000142798 Description: heparan sulfate proteoglycan 2 [Source:HGNC Symbol;Acc:HGNC:5273] Location: 1:21822244-21937310 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron glial cell adipocyte Other: Degradation of the extracellular matrix Metabolism of vitamins and cofactors Integrin cell surface interactions LUM Gene Information Basic Information Ensembl ID: ENSG00000139329 Description: lumican [Source:HGNC Symbol;Acc:HGNC:6724] Location: 12:91102629-91111494 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stromal cell fibroblast endocrine cell pericyte stellate cell stem cell meningeal cell Other: Integrin cell surface interactions ECM proteoglycans Metabolism of carbohydrates and carbohydrate derivatives LYVE1 Gene Information Basic Information Ensembl ID: ENSG00000133800 Description: lymphatic vessel endothelial hyaluronan receptor 1 [Source:HGNC Symbol;Acc:HGNC:14687] Location: 11:10556966-10611689 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell macrophage phagocyte antigen presenting cell microglia lymphocyte Other: Metabolism of carbohydrates and carbohydrate derivatives OGN Gene Information Basic Information Ensembl ID: ENSG00000106809 Description: osteoglycin [Source:HGNC Symbol;Acc:HGNC:8126] Location: 9:92383268-92404696 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endocrine cell stromal cell fibroblast stem cell embryonic cell epithelial cell theca cell Other: Metabolism of carbohydrates and carbohydrate derivatives Diseases of glycosylation SLC26A2 Gene Information Basic Information Ensembl ID: ENSG00000155850 Description: solute carrier family 26 member 2 [Source:HGNC Symbol;Acc:HGNC:10994] Location: 5:149960758-149993455 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell epithelial cell mast cell basophil secretory cell Other: SLC-mediated transmembrane transport Metabolism of carbohydrates and carbohydrate derivatives Diseases of glycosylation VCAN Gene Information Basic Information Ensembl ID: ENSG00000038427 Description: versican [Source:HGNC Symbol;Acc:HGNC:2464] Location: 5:83471618-83582303 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell fibroblast dendritic cell stem cell embryonic cell stromal cell phagocyte glial cell oligodendrocyte precursor cell epithelial cell schwann cell monocyte myeloid cell macrophage mesangial cell myeloid derived suppressor cell Other: ECM proteoglycans Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein modification
Metabolism of lipids Pathway Hierarchies & Genes Triglyceride biosynthesis (1 genes) Metabolism Metabolism of lipids Phospholipid metabolism Glycerophospholipid biosynthesis Synthesis of PA Metabolism of steroids Regulation of cholesterol biosynthesis by SREBP (SREBF) Activation of gene expression by SREBF (SREBP) Triglyceride metabolism Triglyceride biosynthesis 1 genes Biosynthesis of DPAn-3-derived protectins and resolvins (1 genes) Metabolism Metabolism of lipids Fatty acid metabolism Arachidonate metabolism Synthesis of 5-eicosatetraenoic acids Biosynthesis of specialized proresolving mediators (SPMs) Biosynthesis of DPA-derived SPMs Biosynthesis of DPAn-3 SPMs Biosynthesis of DPAn-3-derived protectins and resolvins 1 genes Synthesis of Prostaglandins (PG) and Thromboxanes (TX) (1 genes) Metabolism Metabolism of lipids Biosynthesis of specialized proresolving mediators (SPMs) Biosynthesis of DHA-derived SPMs Biosynthesis of D-series resolvins Fatty acid metabolism Arachidonate metabolism Synthesis of Prostaglandins (PG) and Thromboxanes (TX) 1 genes Synthesis of PG (1 genes) Metabolism Metabolism of lipids Phospholipid metabolism Glycerophospholipid biosynthesis Synthesis of PG 1 genes Synthesis of PIPs at the plasma membrane (1 genes) Metabolism Metabolism of lipids Phospholipid metabolism PI Metabolism Synthesis of PIPs at the plasma membrane 1 genes PPARA activates gene expression (4 genes) Metabolism Metabolism of lipids Regulation of lipid metabolism by PPARalpha PPARA activates gene expression 4 genes Triglyceride biosynthesis (1 genes) Metabolism Metabolism of lipids Triglyceride metabolism Triglyceride biosynthesis 1 genes Vitamin D (calciferol) metabolism (1 genes) Metabolism Metabolism of lipids Metabolism of steroids Vitamin D (calciferol) metabolism 1 genes	ALOX5 Gene Information Basic Information Ensembl ID: ENSG00000012779 Description: arachidonate 5-lipoxygenase [Source:HGNC Symbol;Acc:HGNC:435] Location: 10:45374176-45446119 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell dendritic cell phagocyte Naive B cell tuft cell epithelial cell mast cell granulocyte basophil antigen presenting cell macrophage Other: Cytokine Signaling in Immune system Innate Immune System Metabolism of lipids BMX Gene Information Basic Information Ensembl ID: ENSG00000102010 Description: BMX non-receptor tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:1079] Location: X:15464246-15556529 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: tuft cell endocardial cell endothelial cell Other: Apoptosis Metabolism of lipids CD36 Gene Information Basic Information Ensembl ID: ENSG00000135218 Description: CD36 molecule (CD36 blood group) [Source:HGNC Symbol;Acc:HGNC:1663] Location: 7:80369575-80679277 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell phagocyte monocyte adipocyte erythrocyte erythroid lineage cell macrophage ependymal cell pericyte Other: Cytokine Signaling in Immune system Adaptive Immune System Integration of energy metabolism FHL2 Gene Information Basic Information Ensembl ID: ENSG00000115641 Description: four and a half LIM domains 2 [Source:HGNC Symbol;Acc:HGNC:3703] Location: 2:105357712-105438513 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: cardiomyocyte trophoblast cell epithelial cell stromal cell stem cell fibroblast smooth muscle cell basal cell interstitial cell mural cell Other: Metabolism of lipids GPAM Gene Information Basic Information Ensembl ID: ENSG00000119927 Description: glycerol-3-phosphate acyltransferase%2C mitochondrial [Source:HGNC Symbol;Acc:HGNC:24865] Location: 10:112149865-112215377 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: adipocyte Other: Epigenetic regulation of gene expression Metabolism of lipids RNA Polymerase II Transcription HPGD Gene Information Basic Information Ensembl ID: ENSG00000164120 Description: 15-hydroxyprostaglandin dehydrogenase [Source:HGNC Symbol;Acc:HGNC:5154] Location: 4:174490175-174523154 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell epithelial cell endothelial cell enterocyte mast cell secretory cell melanocyte Other: Metabolism of lipids LRP2 Gene Information Basic Information Ensembl ID: ENSG00000081479 Description: LDL receptor related protein 2 [Source:HGNC Symbol;Acc:HGNC:6694] Location: 2:169127109-169362534 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell glial cell Other: Metabolism of vitamins and cofactors Membrane Trafficking Visual phototransduction MOGAT1 Gene Information Basic Information Ensembl ID: ENSG00000124003 Description: monoacylglycerol O-acyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:18210] Location: 2:222671658-222709930 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Metabolism of lipids PLD4 Gene Information Basic Information Ensembl ID: ENSG00000166428 Description: phospholipase D family member 4 [Source:HGNC Symbol;Acc:HGNC:23792] Location: 14:104924713-104937761 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron dendritic cell macrophage phagocyte Naive B cell bone cell antigen presenting cell plasma cell Other: Inositol phosphate metabolism Innate Immune System Metabolism of lipids PPARG Gene Information Basic Information Ensembl ID: ENSG00000132170 Description: peroxisome proliferator activated receptor gamma [Source:HGNC Symbol;Acc:HGNC:9236] Location: 3:12287368-12434356 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte epithelial cell stem cell phagocyte adipocyte macrophage tuft cell Other: Epigenetic regulation of gene expression Metabolism of lipids Post-translational protein modification RORA Gene Information Basic Information Ensembl ID: ENSG00000069667 Description: RAR related orphan receptor A [Source:HGNC Symbol;Acc:HGNC:10258] Location: 15:60488284-61229302 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell endothelial cell neuron natural killer cell CD8+ T cell pericyte developing T cell T cell stem cell CD4+ T cell bipolar cell fibroblast stromal cell smooth muscle cell epithelial cell macrophage Other: Cytokine Signaling in Immune system Cellular responses to stress Metabolism of lipids
Metabolism of nucleotides Pathway Hierarchies & Genes Pyrimidine catabolism (1 genes) Metabolism Metabolism of nucleotides Nucleotide catabolism Pyrimidine catabolism 1 genes	NT5E Gene Information Basic Information Ensembl ID: ENSG00000135318 Description: 5'-nucleotidase ecto [Source:HGNC Symbol;Acc:HGNC:8021] Location: 6:85449584-85495791 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: trophoblast cell epithelial cell stem cell pericyte mesenchymal stem cell stromal cell progenitor cell fibroblast Naive B cell activated B cell Other: Metabolism of nucleotides Metabolism of vitamins and cofactors Parasitic Infection Pathways
Metabolism of porphyrins Pathway Hierarchies & Genes Heme biosynthesis (3 genes) Metabolism Metabolism of porphyrins Heme biosynthesis 3 genes Heme degradation (1 genes) Metabolism Metabolism of porphyrins Heme degradation 1 genes	ALAS2 Gene Information Basic Information Ensembl ID: ENSG00000158578 Description: 5'-aminolevulinate synthase 2 [Source:HGNC Symbol;Acc:HGNC:397] Location: X:55009055-55030977 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell Other: Metabolism of porphyrins HMBS Gene Information Basic Information Ensembl ID: ENSG00000256269 Description: hydroxymethylbilane synthase [Source:HGNC Symbol;Acc:HGNC:4982] Location: 11:119084866-119093834 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell erythrocyte erythroid lineage cell Other: Metabolism of porphyrins SLCO2B1 Gene Information Basic Information Ensembl ID: ENSG00000137491 Description: solute carrier organic anion transporter family member 2B1 [Source:HGNC Symbol;Acc:HGNC:10962] Location: 11:75100563-75206549 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: macrophage phagocyte monocyte microglia mast cell myeloid cell antigen presenting cell dendritic cell Other: Metabolism of porphyrins SLC-mediated transmembrane transport Aspirin ADME UROD Gene Information Basic Information Ensembl ID: ENSG00000126088 Description: uroporphyrinogen decarboxylase [Source:HGNC Symbol;Acc:HGNC:12591] Location: 1:45010950-45015575 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell myeloid cell erythrocyte erythroid lineage cell progenitor cell Other: Metabolism of porphyrins
Metabolism of vitamins and cofactors Pathway Hierarchies & Genes Metabolism of fat-soluble vitamins (1 genes) Metabolism Metabolism of vitamins and cofactors Metabolism of water-soluble vitamins and cofactors Cobalamin (Cbl, vitamin B12) transport and metabolism Transport of RCbl within the body Metabolism of fat-soluble vitamins 1 genes Nicotinate metabolism (2 genes) Metabolism Metabolism of vitamins and cofactors Metabolism of water-soluble vitamins and cofactors Nicotinate metabolism 2 genes Vitamin B5 (pantothenate) metabolism (1 genes) Metabolism Metabolism of vitamins and cofactors Metabolism of water-soluble vitamins and cofactors Vitamin B5 (pantothenate) metabolism 1 genes Metabolism of fat-soluble vitamins (1 genes) Metabolism Metabolism of vitamins and cofactors Metabolism of fat-soluble vitamins 1 genes	CD38 Gene Information Basic Information Ensembl ID: ENSG00000004468 Description: CD38 molecule [Source:HGNC Symbol;Acc:HGNC:1667] Location: 4:15778275-15853232 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: Naive B cell natural killer cell pericyte plasma cell lymphoid progenitor cell plasmablast activated B cell plasma B cell basal cell memory B cell primordial germ cell CD8+ T cell Regulatory T cell Other: Metabolism of vitamins and cofactors ENPP2 Gene Information Basic Information Ensembl ID: ENSG00000136960 Description: ectonucleotide pyrophosphatase/phosphodiesterase 2 [Source:HGNC Symbol;Acc:HGNC:3357] Location: 8:119557086-119673453 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell epithelial cell macrophage fibroblast glial cell stromal cell Other: Metabolism of vitamins and cofactors HSPG2 Gene Information Basic Information Ensembl ID: ENSG00000142798 Description: heparan sulfate proteoglycan 2 [Source:HGNC Symbol;Acc:HGNC:5273] Location: 1:21822244-21937310 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron glial cell adipocyte Other: Degradation of the extracellular matrix Metabolism of vitamins and cofactors Integrin cell surface interactions LRP2 Gene Information Basic Information Ensembl ID: ENSG00000081479 Description: LDL receptor related protein 2 [Source:HGNC Symbol;Acc:HGNC:6694] Location: 2:169127109-169362534 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell glial cell Other: Metabolism of vitamins and cofactors Membrane Trafficking Visual phototransduction NT5E Gene Information Basic Information Ensembl ID: ENSG00000135318 Description: 5'-nucleotidase ecto [Source:HGNC Symbol;Acc:HGNC:8021] Location: 6:85449584-85495791 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: trophoblast cell epithelial cell stem cell pericyte mesenchymal stem cell stromal cell progenitor cell fibroblast Naive B cell activated B cell Other: Metabolism of nucleotides Metabolism of vitamins and cofactors Parasitic Infection Pathways
Mitochondrial protein degradation Pathway Hierarchies & Genes Mitochondrial protein degradation (1 genes) Metabolism of proteins Mitochondrial protein degradation 1 genes	APP Gene Information Basic Information Ensembl ID: ENSG00000142192 Description: amyloid beta precursor protein [Source:HGNC Symbol;Acc:HGNC:620] Location: 21:25880535-26171128 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron interneuron dendritic cell epithelial cell stem cell fibroblast Other: Cytokine Signaling in Immune system Innate Immune System Membrane Trafficking
Myogenesis Pathway Hierarchies & Genes Myogenesis (2 genes) Developmental Biology Myogenesis 2 genes	CTNNB1 Gene Information Basic Information Ensembl ID: ENSG00000168036 Description: catenin beta 1 [Source:HGNC Symbol;Acc:HGNC:2514] Location: 3:41194741-41260096 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell endothelial cell epithelial cell stem cell phagocyte adrenal cortical cell fibroblast monocyte Specialized T cell melanocyte M cell Other: Apoptosis Innate Immune System Signaling by WNT TCF4 Gene Information Basic Information Ensembl ID: ENSG00000196628 Description: transcription factor 4 [Source:HGNC Symbol;Acc:HGNC:11634] Location: 18:55222185-55664787 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron dendritic cell Naive B cell Follicular B cell interneuron Other: Signaling by WNT Myogenesis Signaling by TGFB family members
Nephrin family interactions Pathway Hierarchies & Genes Nephrin family interactions (1 genes) Cell-Cell communication Nephrin family interactions 1 genes	SPTBN1 Gene Information Basic Information Ensembl ID: ENSG00000115306 Description: spectrin beta%2C non-erythrocytic 1 [Source:HGNC Symbol;Acc:HGNC:11275] Location: 2:54456327-54671446 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron adipocyte glial cell stromal cell epithelial cell schwann cell Other: Membrane Trafficking Nephrin family interactions MAPK family signaling cascades
Nervous system development Pathway Hierarchies & Genes Sema4D induced cell migration and growth-cone collapse (1 genes) Developmental Biology Nervous system development Axon guidance Semaphorin interactions Sema4D in semaphorin signaling Sema4D induced cell migration and growth-cone collapse 1 genes Sema4D mediated inhibition of cell attachment and migration (1 genes) Developmental Biology Nervous system development Axon guidance Semaphorin interactions Sema4D in semaphorin signaling Sema4D mediated inhibition of cell attachment and migration 1 genes CRMPs in Sema3A signaling (1 genes) Developmental Biology Nervous system development Axon guidance Semaphorin interactions CRMPs in Sema3A signaling 1 genes EPH-ephrin mediated repulsion of cells (1 genes) Developmental Biology Nervous system development Axon guidance EPH-Ephrin signaling EPH-ephrin mediated repulsion of cells 1 genes EPHA-mediated growth cone collapse (1 genes) Developmental Biology Nervous system development Axon guidance EPH-Ephrin signaling EPHA-mediated growth cone collapse 1 genes Interaction between L1 and Ankyrins (2 genes) Developmental Biology Nervous system development Axon guidance L1CAM interactions Interaction between L1 and Ankyrins 2 genes NCAM1 interactions (7 genes) Developmental Biology Nervous system development Axon guidance NCAM signaling for neurite out-growth NCAM1 interactions 7 genes Other semaphorin interactions (2 genes) Developmental Biology Nervous system development Axon guidance Semaphorin interactions Other semaphorin interactions 2 genes Recycling pathway of L1 (2 genes) Developmental Biology Nervous system development Axon guidance L1CAM interactions Recycling pathway of L1 2 genes Signal transduction by L1 (3 genes) Developmental Biology Nervous system development Axon guidance L1CAM interactions Signal transduction by L1 3 genes L1CAM interactions (1 genes) Developmental Biology Nervous system development Axon guidance L1CAM interactions 1 genes Reelin signalling pathway (1 genes) Developmental Biology Nervous system development Axon guidance Reelin signalling pathway 1 genes Signaling by ROBO receptors (1 genes) Developmental Biology Nervous system development Axon guidance Signaling by ROBO receptors 1 genes EGR2 and SOX10-mediated initiation of Schwann cell myelination (3 genes) Developmental Biology Nervous system development EGR2 and SOX10-mediated initiation of Schwann cell myelination 3 genes	ANK3 Gene Information Basic Information Ensembl ID: ENSG00000151150 Description: ankyrin 3 [Source:HGNC Symbol;Acc:HGNC:494] Location: 10:60026298-60733490 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell neuron interneuron developing T cell enteroendocrine cell T cell Naive B cell trophoblast cell pneumocyte glial cell CD4+ T cell schwann cell Other: Membrane Trafficking Cell junction organization Post-translational protein modification CD24 Gene Information Basic Information Ensembl ID: ENSG00000272398 Description: CD24 molecule [Source:HGNC Symbol;Acc:HGNC:1645] Location: 6:106969831-106975627 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell epithelial cell Naive B cell neuron hematopoietic stem cell stem cell tuft cell lymphoid progenitor cell secretory cell neutrophil cancer stem cell B cell Regulatory progenitor cell granulocyte neural stem cell Other: Nervous system development COL4A1 Gene Information Basic Information Ensembl ID: ENSG00000187498 Description: collagen type IV alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2202] Location: 13:110148963-110307202 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte stem cell fibroblast stromal cell smooth muscle cell adipocyte melanocyte basal cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL4A2 Gene Information Basic Information Ensembl ID: ENSG00000134871 Description: collagen type IV alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2203] Location: 13:110305812-110513209 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte epithelial cell stem cell adipocyte fibroblast glial cell stromal cell smooth muscle cell melanocyte Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL5A1 Gene Information Basic Information Ensembl ID: ENSG00000130635 Description: collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209] Location: 9:134641803-134844843 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron pericyte stromal cell stellate cell fibroblast stem cell embryonic cell mesenchymal cell skeletal muscle cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL5A2 Gene Information Basic Information Ensembl ID: ENSG00000204262 Description: collagen type V alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2210] Location: 2:189031898-189225312 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron pericyte stromal cell stellate cell fibroblast stem cell endothelial cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL5A3 Gene Information Basic Information Ensembl ID: ENSG00000080573 Description: collagen type V alpha 3 chain [Source:HGNC Symbol;Acc:HGNC:14864] Location: 19:9959561-10010504 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pericyte astrocyte mesenchymal cell mural cell glial cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL6A2 Gene Information Basic Information Ensembl ID: ENSG00000142173 Description: collagen type VI alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2212] Location: 21:46098112-46132848 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stromal cell fibroblast stellate cell endocrine cell pericyte stem cell endothelial cell smooth muscle cell Other: Degradation of the extracellular matrix Collagen formation Integrin cell surface interactions CXCL12 Gene Information Basic Information Ensembl ID: ENSG00000107562 Description: C-X-C motif chemokine ligand 12 [Source:HGNC Symbol;Acc:HGNC:10672] Location: 10:44370165-44386493 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stromal cell thymic epithelial cell stem cell endothelial cell fibroblast mesodermal cell smooth muscle cell antigen presenting cell mesenchymal cell mural cell preadipocyte adipocyte medullary reticular cell Other: Signaling by GPCR Signaling by Nuclear Receptors Signaling by Receptor Tyrosine Kinases DPYSL3 Gene Information Basic Information Ensembl ID: ENSG00000113657 Description: dihydropyrimidinase like 3 [Source:HGNC Symbol;Acc:HGNC:3015] Location: 5:147390808-147510068 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron sensory neuron fibroblast tuft cell epithelial cell interneuron motor neuron photoreceptor cell Other: Nervous system development EFNA5 Gene Information Basic Information Ensembl ID: ENSG00000184349 Description: ephrin A5 [Source:HGNC Symbol;Acc:HGNC:3225] Location: 5:107376894-107670937 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell epithelial cell goblet cell stem cell fibroblast neuron ionocyte Other: Nervous system development EGFR Gene Information Basic Information Ensembl ID: ENSG00000146648 Description: epidermal growth factor receptor [Source:HGNC Symbol;Acc:HGNC:3236] Location: 7:55019017-55211628 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell endothelial cell trophoblast cell hepatocyte stem cell adipocyte fibroblast muscle cell stromal cell mesenchymal stem cell skeletal muscle cell cancer cell Other: Signaling by NOTCH Membrane Trafficking Signaling by GPCR EZR Gene Information Basic Information Ensembl ID: ENSG00000092820 Description: ezrin [Source:HGNC Symbol;Acc:HGNC:12691] Location: 6:158765741-158819368 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell memory T cell Naive B cell enterocyte developing T cell dendritic cell stem cell T cell trophoblast cell CD4+ T cell Follicular B cell memory B cell glial cell lymphocyte mesothelial cell Other: Sensory processing of sound Nervous system development ITGA1 Gene Information Basic Information Ensembl ID: ENSG00000213949 Description: integrin subunit alpha 1 [Source:HGNC Symbol;Acc:HGNC:6134] Location: 5:52787916-52959209 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte developing T cell epithelial cell fibroblast glial cell stromal cell Specialized T cell smooth muscle cell CD8+ T cell T cell mesenchymal cell lymphocyte beta cell memory T cell Other: Integrin cell surface interactions Laminin interactions Smooth Muscle Contraction ITGA2B Gene Information Basic Information Ensembl ID: ENSG00000005961 Description: integrin subunit alpha 2b [Source:HGNC Symbol;Acc:HGNC:6138] Location: 17:44372180-44389649 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: myeloid cell basophil platelet progenitor cell megakaryocyte Other: Integrin cell surface interactions ECM proteoglycans Integrin signaling ITGB3 Gene Information Basic Information Ensembl ID: ENSG00000259207 Description: integrin subunit beta 3 [Source:HGNC Symbol;Acc:HGNC:6156] Location: 17:47253827-47313743 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: platelet epithelial cell monocyte Other: ECM proteoglycans Elastic fibre formation Cell surface interactions at the vascular wall LAMA2 Gene Information Basic Information Ensembl ID: ENSG00000196569 Description: laminin subunit alpha 2 [Source:HGNC Symbol;Acc:HGNC:6482] Location: 6:128883138-129516566 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: bergmann glial cell endothelial cell fibroblast cardiomyocyte pericyte skeletal muscle cell stem cell stromal cell glial cell Other: Laminin interactions Non-integrin membrane-ECM interactions ECM proteoglycans MET Gene Information Basic Information Ensembl ID: ENSG00000105976 Description: MET proto-oncogene%2C receptor tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:7029] Location: 7:116672196-116798377 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell pancreatic cell melanocyte Other: MAPK family signaling cascades RNA Polymerase II Transcription Intracellular signaling by second messengers MMP2 Gene Information Basic Information Ensembl ID: ENSG00000087245 Description: matrix metallopeptidase 2 [Source:HGNC Symbol;Acc:HGNC:7166] Location: 16:55389700-55506691 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: mesenchymal cell smooth muscle cell Other: Cytokine Signaling in Immune system Degradation of the extracellular matrix Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) MYL9 Gene Information Basic Information Ensembl ID: ENSG00000101335 Description: myosin light chain 9 [Source:HGNC Symbol;Acc:HGNC:15754] Location: 20:36541497-36551447 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell pericyte stellate cell fibroblast stromal cell smooth muscle cell platelet megakaryocyte Other: Smooth Muscle Contraction RNA Polymerase II Transcription Nervous system development NCAM1 Gene Information Basic Information Ensembl ID: ENSG00000149294 Description: neural cell adhesion molecule 1 [Source:HGNC Symbol;Acc:HGNC:7656] Location: 11:112961275-113278436 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron natural killer cell interneuron pericyte T cell glial cell smooth muscle cell motor neuron Specialized T cell innate lymphoid cell chromaffin cell epithelial cell neuroendocrine cell lymphocyte cancer stem cell progenitor cell stem cell mesenchymal stem cell immune cell cancer cell autonomic neuron Other: ECM proteoglycans Cytokine Signaling in Immune system MAPK family signaling cascades RDX Gene Information Basic Information Ensembl ID: ENSG00000137710 Description: radixin [Source:HGNC Symbol;Acc:HGNC:9944] Location: 11:109864295-110296712 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte adrenal cortical cell epithelial cell Other: Sensory processing of sound Nervous system development RELN Gene Information Basic Information Ensembl ID: ENSG00000189056 Description: reelin [Source:HGNC Symbol;Acc:HGNC:9957] Location: 7:103471381-103989658 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte epithelial cell neuron sensory neuron glial cell stromal cell schwann cell erythroid lineage cell cajal-retzius cell granule cell Other: Nervous system development SOX10 Gene Information Basic Information Ensembl ID: ENSG00000100146 Description: SRY-box transcription factor 10 [Source:HGNC Symbol;Acc:HGNC:11190] Location: 22:37970686-37987422 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neural crest cell neural stem cell schwann cell Other: Cell junction organization Nervous system development MITF-M-regulated melanocyte development SPTBN1 Gene Information Basic Information Ensembl ID: ENSG00000115306 Description: spectrin beta%2C non-erythrocytic 1 [Source:HGNC Symbol;Acc:HGNC:11275] Location: 2:54456327-54671446 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron adipocyte glial cell stromal cell epithelial cell schwann cell Other: Membrane Trafficking Nephrin family interactions MAPK family signaling cascades TREM2 Gene Information Basic Information Ensembl ID: ENSG00000095970 Description: triggering receptor expressed on myeloid cells 2 [Source:HGNC Symbol;Acc:HGNC:17761] Location: 6:41158506-41163186 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron macrophage dendritic cell phagocyte monocyte antigen presenting cell microglia Other: Adaptive Immune System Innate Immune System Nervous system development WWTR1 Gene Information Basic Information Ensembl ID: ENSG00000018408 Description: WW domain containing transcription regulator 1 [Source:HGNC Symbol;Acc:HGNC:24042] Location: 3:149517235-149736714 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell Other: Signaling by Hippo Cardiac conduction RNA Polymerase II Transcription
Non-integrin membrane-ECM interactions Pathway Hierarchies & Genes Syndecan interactions (1 genes) Extracellular matrix organization Non-integrin membrane-ECM interactions Syndecan interactions 1 genes Syndecan interactions (9 genes) Extracellular matrix organization Non-integrin membrane-ECM interactions 2 genes Syndecan interactions 7 genes	COL4A1 Gene Information Basic Information Ensembl ID: ENSG00000187498 Description: collagen type IV alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2202] Location: 13:110148963-110307202 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte stem cell fibroblast stromal cell smooth muscle cell adipocyte melanocyte basal cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL4A2 Gene Information Basic Information Ensembl ID: ENSG00000134871 Description: collagen type IV alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2203] Location: 13:110305812-110513209 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte epithelial cell stem cell adipocyte fibroblast glial cell stromal cell smooth muscle cell melanocyte Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL5A1 Gene Information Basic Information Ensembl ID: ENSG00000130635 Description: collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209] Location: 9:134641803-134844843 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron pericyte stromal cell stellate cell fibroblast stem cell embryonic cell mesenchymal cell skeletal muscle cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL5A2 Gene Information Basic Information Ensembl ID: ENSG00000204262 Description: collagen type V alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2210] Location: 2:189031898-189225312 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron pericyte stromal cell stellate cell fibroblast stem cell endothelial cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL5A3 Gene Information Basic Information Ensembl ID: ENSG00000080573 Description: collagen type V alpha 3 chain [Source:HGNC Symbol;Acc:HGNC:14864] Location: 19:9959561-10010504 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pericyte astrocyte mesenchymal cell mural cell glial cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation HSPG2 Gene Information Basic Information Ensembl ID: ENSG00000142798 Description: heparan sulfate proteoglycan 2 [Source:HGNC Symbol;Acc:HGNC:5273] Location: 1:21822244-21937310 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron glial cell adipocyte Other: Degradation of the extracellular matrix Metabolism of vitamins and cofactors Integrin cell surface interactions ITGA6 Gene Information Basic Information Ensembl ID: ENSG00000091409 Description: integrin subunit alpha 6 [Source:HGNC Symbol;Acc:HGNC:6142] Location: 2:172234216-172506459 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell goblet cell kidney cell pericyte epithelial cell embryonic cell stem cell glial cell stromal cell Other: Collagen formation Cell surface interactions at the vascular wall Integrin cell surface interactions ITGB3 Gene Information Basic Information Ensembl ID: ENSG00000259207 Description: integrin subunit beta 3 [Source:HGNC Symbol;Acc:HGNC:6156] Location: 17:47253827-47313743 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: platelet epithelial cell monocyte Other: ECM proteoglycans Elastic fibre formation Cell surface interactions at the vascular wall LAMA2 Gene Information Basic Information Ensembl ID: ENSG00000196569 Description: laminin subunit alpha 2 [Source:HGNC Symbol;Acc:HGNC:6482] Location: 6:128883138-129516566 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: bergmann glial cell endothelial cell fibroblast cardiomyocyte pericyte skeletal muscle cell stem cell stromal cell glial cell Other: Laminin interactions Non-integrin membrane-ECM interactions ECM proteoglycans TNC Gene Information Basic Information Ensembl ID: ENSG00000041982 Description: tenascin C [Source:HGNC Symbol;Acc:HGNC:5318] Location: 9:115019575-115118207 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron pericyte epithelial cell stem cell pneumocyte fibroblast stromal cell smooth muscle cell astrocyte Other: Integrin cell surface interactions Non-integrin membrane-ECM interactions ECM proteoglycans
O2/CO2 exchange in erythrocytes Pathway Hierarchies & Genes Erythrocytes take up oxygen and release carbon dioxide (4 genes) Transport of small molecules O2/CO2 exchange in erythrocytes Erythrocytes take up carbon dioxide and release oxygen Erythrocytes take up oxygen and release carbon dioxide 4 genes	AQP1 Gene Information Basic Information Ensembl ID: ENSG00000240583 Description: aquaporin 1 (Colton blood group) [Source:HGNC Symbol;Acc:HGNC:633] Location: 7:30911853-30925517 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell enteroendocrine cell fibroblast pneumocyte epithelial cell astrocyte Other: O2/CO2 exchange in erythrocytes Aquaporin-mediated transport Developmental Cell Lineages CA2 Gene Information Basic Information Ensembl ID: ENSG00000104267 Description: carbonic anhydrase 2 [Source:HGNC Symbol;Acc:HGNC:1373] Location: 8:85463968-85481493 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell erythrocyte endothelial cell glial cell stromal cell fibroblast enterocyte platelet erythroid lineage cell innate lymphoid cell hepatocyte megakaryocyte intercalated cell Other: Reversible hydration of carbon dioxide O2/CO2 exchange in erythrocytes Developmental Cell Lineages RHAG Gene Information Basic Information Ensembl ID: ENSG00000112077 Description: Rh associated glycoprotein [Source:HGNC Symbol;Acc:HGNC:10006] Location: 6:49605175-49636839 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell erythrocyte hematopoietic progenitor cell erythroid lineage cell endothelial cell Other: O2/CO2 exchange in erythrocytes SLC-mediated transmembrane transport SLC transporter disorders SLC4A1 Gene Information Basic Information Ensembl ID: ENSG00000004939 Description: solute carrier family 4 member 1 (Diego blood group) [Source:HGNC Symbol;Acc:HGNC:11027] Location: 17:44248390-44268141 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell erythrocyte intercalated cell erythroid lineage cell developing T cell Other: O2/CO2 exchange in erythrocytes SLC-mediated transmembrane transport SLC transporter disorders
Olfactory Signaling Pathway Pathway Hierarchies & Genes Olfactory Signaling Pathway (1 genes) Sensory Perception Olfactory Signaling Pathway 1 genes	GNB1 Gene Information Basic Information Ensembl ID: ENSG00000078369 Description: G protein subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:4396] Location: 1:1785285-1892292 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: photoreceptor cell monocyte memory B cell dendritic cell Other: Olfactory Signaling Pathway Protein folding Transmission across Chemical Synapses
Peptide hormone metabolism Pathway Hierarchies & Genes Synthesis, secretion, and deacylation of Ghrelin (4 genes) Metabolism of proteins Peptide hormone metabolism Incretin synthesis, secretion, and inactivation Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) 2 genes Synthesis, secretion, and deacylation of Ghrelin 2 genes Insulin processing (1 genes) Metabolism of proteins Peptide hormone metabolism Insulin processing 1 genes Metabolism of Angiotensinogen to Angiotensins (3 genes) Metabolism of proteins Peptide hormone metabolism Metabolism of Angiotensinogen to Angiotensins 3 genes Synthesis, secretion, and deacylation of Ghrelin (1 genes) Metabolism of proteins Peptide hormone metabolism Synthesis, secretion, and deacylation of Ghrelin 1 genes	CPA3 Gene Information Basic Information Ensembl ID: ENSG00000163751 Description: carboxypeptidase A3 [Source:HGNC Symbol;Acc:HGNC:2298] Location: 3:148865296-148897203 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell mast cell hematopoietic stem cell Other: Peptide hormone metabolism CPE Gene Information Basic Information Ensembl ID: ENSG00000109472 Description: carboxypeptidase E [Source:HGNC Symbol;Acc:HGNC:2303] Location: 4:165361194-165498547 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: fibroblast neuron endocrine cell pericyte epithelial cell stem cell endothelial cell stromal cell smooth muscle cell enteroendocrine cell mural cell excitatory neuron Other: Peptide hormone metabolism CTNNB1 Gene Information Basic Information Ensembl ID: ENSG00000168036 Description: catenin beta 1 [Source:HGNC Symbol;Acc:HGNC:2514] Location: 3:41194741-41260096 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell endothelial cell epithelial cell stem cell phagocyte adrenal cortical cell fibroblast monocyte Specialized T cell melanocyte M cell Other: Apoptosis Innate Immune System Signaling by WNT GNB1 Gene Information Basic Information Ensembl ID: ENSG00000078369 Description: G protein subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:4396] Location: 1:1785285-1892292 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: photoreceptor cell monocyte memory B cell dendritic cell Other: Olfactory Signaling Pathway Protein folding Transmission across Chemical Synapses IGF1 Gene Information Basic Information Ensembl ID: ENSG00000017427 Description: insulin like growth factor 1 [Source:HGNC Symbol;Acc:HGNC:5464] Location: 12:102395874-102481744 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron fibroblast endocrine cell stem cell stromal cell epithelial cell adipocyte macrophage Other: Peptide hormone metabolism Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Platelet activation, signaling and aggregation LEP Gene Information Basic Information Ensembl ID: ENSG00000174697 Description: leptin [Source:HGNC Symbol;Acc:HGNC:6553] Location: 7:128241278-128257629 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: adipocyte Other: Signaling by Leptin Peptide hormone metabolism Adipogenesis MME Gene Information Basic Information Ensembl ID: ENSG00000196549 Description: membrane metalloendopeptidase [Source:HGNC Symbol;Acc:HGNC:7154] Location: 3:155024124-155183704 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell Naive B cell enterocyte epithelial cell stromal cell fibroblast lymphoid progenitor cell adipocyte Other: Innate Immune System Peptide hormone metabolism Cardiac conduction REN Gene Information Basic Information Ensembl ID: ENSG00000143839 Description: renin [Source:HGNC Symbol;Acc:HGNC:9958] Location: 1:204154819-204190324 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pericyte Other: Peptide hormone metabolism SPCS2 Gene Information Basic Information Ensembl ID: ENSG00000118363 Description: signal peptidase complex subunit 2 [Source:HGNC Symbol;Acc:HGNC:28962] Location: 11:74949261-74979033 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: Naive B cell stromal cell plasma cell plasmablast Other: Peptide hormone metabolism Cell junction organization Translation
Phosphorylated BMAL1:CLOCK (ARNTL:CLOCK) activates expression of core clock genes Pathway Hierarchies & Genes Phosphorylated BMAL1:CLOCK (ARNTL:CLOCK) activates expression of core clock genes (1 genes) Circadian clock Phosphorylated BMAL1:CLOCK (ARNTL:CLOCK) activates expression of core clock genes 1 genes	RORA Gene Information Basic Information Ensembl ID: ENSG00000069667 Description: RAR related orphan receptor A [Source:HGNC Symbol;Acc:HGNC:10258] Location: 15:60488284-61229302 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell endothelial cell neuron natural killer cell CD8+ T cell pericyte developing T cell T cell stem cell CD4+ T cell bipolar cell fibroblast stromal cell smooth muscle cell epithelial cell macrophage Other: Cytokine Signaling in Immune system Cellular responses to stress Metabolism of lipids
Phosphorylation of CLOCK, acetylation of BMAL1 (ARNTL) at target gene promoters Pathway Hierarchies & Genes Phosphorylation of CLOCK, acetylation of BMAL1 (ARNTL) at target gene promoters (1 genes) Circadian clock Phosphorylation of CLOCK, acetylation of BMAL1 (ARNTL) at target gene promoters 1 genes	RORA Gene Information Basic Information Ensembl ID: ENSG00000069667 Description: RAR related orphan receptor A [Source:HGNC Symbol;Acc:HGNC:10258] Location: 15:60488284-61229302 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell endothelial cell neuron natural killer cell CD8+ T cell pericyte developing T cell T cell stem cell CD4+ T cell bipolar cell fibroblast stromal cell smooth muscle cell epithelial cell macrophage Other: Cytokine Signaling in Immune system Cellular responses to stress Metabolism of lipids
Plasma lipoprotein assembly, remodeling, and clearance Pathway Hierarchies & Genes HDL remodeling (1 genes) Transport of small molecules Plasma lipoprotein assembly, remodeling, and clearance Plasma lipoprotein remodeling HDL remodeling 1 genes	PLTP Gene Information Basic Information Ensembl ID: ENSG00000100979 Description: phospholipid transfer protein [Source:HGNC Symbol;Acc:HGNC:9093] Location: 20:45898621-45912155 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell stromal cell epithelial cell fibroblast endocrine cell macrophage thymic epithelial cell phagocyte monocyte myeloid cell antigen presenting cell Other: Plasma lipoprotein assembly, remodeling, and clearance Signaling by Nuclear Receptors
Platelet Adhesion to exposed collagen Pathway Hierarchies & Genes Platelet Adhesion to exposed collagen (2 genes) Hemostasis Platelet Adhesion to exposed collagen 2 genes	ITGA1 Gene Information Basic Information Ensembl ID: ENSG00000213949 Description: integrin subunit alpha 1 [Source:HGNC Symbol;Acc:HGNC:6134] Location: 5:52787916-52959209 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte developing T cell epithelial cell fibroblast glial cell stromal cell Specialized T cell smooth muscle cell CD8+ T cell T cell mesenchymal cell lymphocyte beta cell memory T cell Other: Integrin cell surface interactions Laminin interactions Smooth Muscle Contraction VWF Gene Information Basic Information Ensembl ID: ENSG00000110799 Description: von Willebrand factor [Source:HGNC Symbol;Acc:HGNC:12726] Location: 12:5948877-6124770 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte epithelial cell vascular cell Other: Formation of Fibrin Clot (Clotting Cascade) Integrin cell surface interactions Integrin signaling
Platelet activation, signaling and aggregation Pathway Hierarchies & Genes Platelet Aggregation (Plug Formation) (11 genes) Hemostasis Platelet activation, signaling and aggregation Response to elevated platelet cytosolic Ca2+ Platelet degranulation 8 genes GP1b-IX-V activation signalling 2 genes Platelet Aggregation (Plug Formation) 1 genes Thrombin signalling through proteinase activated receptors (PARs) (3 genes) Hemostasis Platelet activation, signaling and aggregation Signal amplification ADP signalling through P2Y purinoceptor 12 Thrombin signalling through proteinase activated receptors (PARs) 3 genes GPVI-mediated activation cascade (2 genes) Hemostasis Platelet activation, signaling and aggregation GPVI-mediated activation cascade 2 genes	APP Gene Information Basic Information Ensembl ID: ENSG00000142192 Description: amyloid beta precursor protein [Source:HGNC Symbol;Acc:HGNC:620] Location: 21:25880535-26171128 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron interneuron dendritic cell epithelial cell stem cell fibroblast Other: Cytokine Signaling in Immune system Innate Immune System Membrane Trafficking CD36 Gene Information Basic Information Ensembl ID: ENSG00000135218 Description: CD36 molecule (CD36 blood group) [Source:HGNC Symbol;Acc:HGNC:1663] Location: 7:80369575-80679277 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell phagocyte monocyte adipocyte erythrocyte erythroid lineage cell macrophage ependymal cell pericyte Other: Cytokine Signaling in Immune system Adaptive Immune System Integration of energy metabolism EGF Gene Information Basic Information Ensembl ID: ENSG00000138798 Description: epidermal growth factor [Source:HGNC Symbol;Acc:HGNC:3229] Location: 4:109912883-110013766 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: skeletal muscle cell epithelial cell glial cell Other: Signaling by NOTCH Membrane Trafficking Cellular responses to stress GNB1 Gene Information Basic Information Ensembl ID: ENSG00000078369 Description: G protein subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:4396] Location: 1:1785285-1892292 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: photoreceptor cell monocyte memory B cell dendritic cell Other: Olfactory Signaling Pathway Protein folding Transmission across Chemical Synapses GNG11 Gene Information Basic Information Ensembl ID: ENSG00000127920 Description: G protein subunit gamma 11 [Source:HGNC Symbol;Acc:HGNC:4403] Location: 7:93921735-93928610 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell hematopoietic stem cell smooth muscle cell T cell megakaryocyte Other: Protein folding Transmission across Chemical Synapses Potassium Channels GNGT2 Gene Information Basic Information Ensembl ID: ENSG00000167083 Description: G protein subunit gamma transducin 2 [Source:HGNC Symbol;Acc:HGNC:4412] Location: 17:49202791-49210574 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Transmission across Chemical Synapses Potassium Channels Integration of energy metabolism HGF Gene Information Basic Information Ensembl ID: ENSG00000019991 Description: hepatocyte growth factor [Source:HGNC Symbol;Acc:HGNC:4893] Location: 7:81699010-81770438 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stellate cell fibroblast stromal cell bone cell Other: Cytokine Signaling in Immune system MAPK family signaling cascades Platelet activation, signaling and aggregation IGF1 Gene Information Basic Information Ensembl ID: ENSG00000017427 Description: insulin like growth factor 1 [Source:HGNC Symbol;Acc:HGNC:5464] Location: 12:102395874-102481744 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron fibroblast endocrine cell stem cell stromal cell epithelial cell adipocyte macrophage Other: Peptide hormone metabolism Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Platelet activation, signaling and aggregation ITGA2B Gene Information Basic Information Ensembl ID: ENSG00000005961 Description: integrin subunit alpha 2b [Source:HGNC Symbol;Acc:HGNC:6138] Location: 17:44372180-44389649 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: myeloid cell basophil platelet progenitor cell megakaryocyte Other: Integrin cell surface interactions ECM proteoglycans Integrin signaling ITGB3 Gene Information Basic Information Ensembl ID: ENSG00000259207 Description: integrin subunit beta 3 [Source:HGNC Symbol;Acc:HGNC:6156] Location: 17:47253827-47313743 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: platelet epithelial cell monocyte Other: ECM proteoglycans Elastic fibre formation Cell surface interactions at the vascular wall LCK Gene Information Basic Information Ensembl ID: ENSG00000182866 Description: LCK proto-oncogene%2C Src family tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:6524] Location: 1:32251244-32286165 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell natural killer cell CD8+ T cell developing T cell T cell lymphocyte Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System MMRN1 Gene Information Basic Information Ensembl ID: ENSG00000138722 Description: multimerin 1 [Source:HGNC Symbol;Acc:HGNC:7178] Location: 4:89879532-89954629 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell cardiomyocyte megakaryocyte progenitor cell kidney cell Other: Post-translational protein modification Platelet activation, signaling and aggregation PDPN Gene Information Basic Information Ensembl ID: ENSG00000162493 Description: podoplanin [Source:HGNC Symbol;Acc:HGNC:29602] Location: 1:13583465-13617957 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell CD4+ T cell fibroblast lymphocyte Other: Platelet activation, signaling and aggregation Specification of primordial germ cells PECAM1 Gene Information Basic Information Ensembl ID: ENSG00000261371 Description: platelet and endothelial cell adhesion molecule 1 [Source:HGNC Symbol;Acc:HGNC:8823] Location: 17:64319415-64413776 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron fibroblast monocyte pericyte smooth muscle cell endocrine cell epithelial cell platelet immune cell stromal cell hematopoietic stem cell lymphocyte mesenchymal stem cell endocardial cell Other: Innate Immune System Cell surface interactions at the vascular wall Integrin cell surface interactions TTN Gene Information Basic Information Ensembl ID: ENSG00000155657 Description: titin [Source:HGNC Symbol;Acc:HGNC:12403] Location: 2:178525989-178830802 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell cardiomyocyte skeletal muscle cell phagocyte pneumocyte muscle cell progenitor cell antigen presenting cell T cell memory B cell Regulatory T cell paneth cell Other: Striated Muscle Contraction Platelet activation, signaling and aggregation VWF Gene Information Basic Information Ensembl ID: ENSG00000110799 Description: von Willebrand factor [Source:HGNC Symbol;Acc:HGNC:12726] Location: 12:5948877-6124770 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte epithelial cell vascular cell Other: Formation of Fibrin Clot (Clotting Cascade) Integrin cell surface interactions Integrin signaling
Platelet homeostasis Pathway Hierarchies & Genes Reduction of cytosolic Ca++ levels (3 genes) Hemostasis Platelet homeostasis Platelet calcium homeostasis 2 genes Reduction of cytosolic Ca++ levels 1 genes Nitric oxide stimulates guanylate cyclase (1 genes) Hemostasis Platelet homeostasis Nitric oxide stimulates guanylate cyclase 1 genes Platelet sensitization by LDL (1 genes) Hemostasis Platelet homeostasis Platelet sensitization by LDL 1 genes Prostacyclin signalling through prostacyclin receptor (2 genes) Hemostasis Platelet homeostasis Prostacyclin signalling through prostacyclin receptor 2 genes	GNB1 Gene Information Basic Information Ensembl ID: ENSG00000078369 Description: G protein subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:4396] Location: 1:1785285-1892292 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: photoreceptor cell monocyte memory B cell dendritic cell Other: Olfactory Signaling Pathway Protein folding Transmission across Chemical Synapses GNG11 Gene Information Basic Information Ensembl ID: ENSG00000127920 Description: G protein subunit gamma 11 [Source:HGNC Symbol;Acc:HGNC:4403] Location: 7:93921735-93928610 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell hematopoietic stem cell smooth muscle cell T cell megakaryocyte Other: Protein folding Transmission across Chemical Synapses Potassium Channels GNGT2 Gene Information Basic Information Ensembl ID: ENSG00000167083 Description: G protein subunit gamma transducin 2 [Source:HGNC Symbol;Acc:HGNC:4412] Location: 17:49202791-49210574 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Transmission across Chemical Synapses Potassium Channels Integration of energy metabolism NOS1 Gene Information Basic Information Ensembl ID: ENSG00000089250 Description: nitric oxide synthase 1 [Source:HGNC Symbol;Acc:HGNC:7872] Location: 12:117208142-117452170 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Innate Immune System Platelet homeostasis Cardiac conduction PECAM1 Gene Information Basic Information Ensembl ID: ENSG00000261371 Description: platelet and endothelial cell adhesion molecule 1 [Source:HGNC Symbol;Acc:HGNC:8823] Location: 17:64319415-64413776 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron fibroblast monocyte pericyte smooth muscle cell endocrine cell epithelial cell platelet immune cell stromal cell hematopoietic stem cell lymphocyte mesenchymal stem cell endocardial cell Other: Innate Immune System Cell surface interactions at the vascular wall Integrin cell surface interactions PPP2R5C Gene Information Basic Information Ensembl ID: ENSG00000078304 Description: protein phosphatase 2 regulatory subunit B'gamma [Source:HGNC Symbol;Acc:HGNC:9311] Location: 14:101761709-101927989 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell natural killer cell CD8+ T cell developing T cell Specialized T cell CD4+ T cell T cell Other: Adaptive Immune System Signaling by WNT Platelet homeostasis SLC8A1 Gene Information Basic Information Ensembl ID: ENSG00000183023 Description: solute carrier family 8 member A1 [Source:HGNC Symbol;Acc:HGNC:11068] Location: 2:40097270-40611053 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Platelet homeostasis SLC-mediated transmembrane transport Cardiac conduction
Post-translational protein modification Pathway Hierarchies & Genes Ovarian tumor domain proteases (5 genes) Metabolism of proteins Post-translational protein modification SUMOylation SUMO E3 ligases SUMOylate target proteins SUMOylation of intracellular receptors 3 genes Deubiquitination Ovarian tumor domain proteases 2 genes SUMOylation of transcription factors (1 genes) Metabolism of proteins Post-translational protein modification SUMOylation SUMO E3 ligases SUMOylate target proteins SUMOylation of transcription factors 1 genes Termination of O-glycan biosynthesis (1 genes) Metabolism of proteins Post-translational protein modification O-linked glycosylation O-linked glycosylation of mucins Termination of O-glycan biosynthesis 1 genes Attachment of GPI anchor to uPAR (1 genes) Metabolism of proteins Post-translational protein modification Post-translational modification: synthesis of GPI-anchored proteins Attachment of GPI anchor to uPAR 1 genes N-glycan trimming in the ER and Calnexin/Calreticulin cycle (1 genes) Metabolism of proteins Post-translational protein modification Asparagine N-linked glycosylation N-glycan trimming in the ER and Calnexin/Calreticulin cycle 1 genes Ovarian tumor domain proteases (1 genes) Metabolism of proteins Post-translational protein modification Deubiquitination Ovarian tumor domain proteases 1 genes Post-translational protein phosphorylation (3 genes) Metabolism of proteins Post-translational protein modification Post-translational modification: synthesis of GPI-anchored proteins 2 genes Post-translational protein phosphorylation 1 genes Transport to the Golgi and subsequent modification (4 genes) Metabolism of proteins Post-translational protein modification Asparagine N-linked glycosylation Transport to the Golgi and subsequent modification 4 genes UCH proteinases (2 genes) Metabolism of proteins Post-translational protein modification Deubiquitination UCH proteinases 2 genes Ub-specific processing proteases (3 genes) Metabolism of proteins Post-translational protein modification Deubiquitination Ub-specific processing proteases 3 genes Asparagine N-linked glycosylation (1 genes) Metabolism of proteins Post-translational protein modification Asparagine N-linked glycosylation 1 genes Carboxyterminal post-translational modifications of tubulin (1 genes) Metabolism of proteins Post-translational protein modification Carboxyterminal post-translational modifications of tubulin 1 genes Neddylation (2 genes) Metabolism of proteins Post-translational protein modification Neddylation 2 genes O-linked glycosylation (1 genes) Metabolism of proteins Post-translational protein modification O-linked glycosylation 1 genes Post-translational protein phosphorylation (6 genes) Metabolism of proteins Post-translational protein modification Post-translational protein phosphorylation 6 genes	AGBL4 Gene Information Basic Information Ensembl ID: ENSG00000186094 Description: AGBL carboxypeptidase 4 [Source:HGNC Symbol;Acc:HGNC:25892] Location: 1:48532854-50023954 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron endocrine cell epithelial cell glial cell cardiomyocyte adipocyte Other: Post-translational protein modification ANK3 Gene Information Basic Information Ensembl ID: ENSG00000151150 Description: ankyrin 3 [Source:HGNC Symbol;Acc:HGNC:494] Location: 10:60026298-60733490 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell neuron interneuron developing T cell enteroendocrine cell T cell Naive B cell trophoblast cell pneumocyte glial cell CD4+ T cell schwann cell Other: Membrane Trafficking Cell junction organization Post-translational protein modification APP Gene Information Basic Information Ensembl ID: ENSG00000142192 Description: amyloid beta precursor protein [Source:HGNC Symbol;Acc:HGNC:620] Location: 21:25880535-26171128 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron interneuron dendritic cell epithelial cell stem cell fibroblast Other: Cytokine Signaling in Immune system Innate Immune System Membrane Trafficking AR Gene Information Basic Information Ensembl ID: ENSG00000169083 Description: androgen receptor [Source:HGNC Symbol;Acc:HGNC:644] Location: X:67544021-67730619 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: fibroblast stromal cell epithelial cell adipocyte Other: Cellular responses to stress Post-translational protein modification RNA Polymerase II Transcription CD55 Gene Information Basic Information Ensembl ID: ENSG00000196352 Description: CD55 molecule (Cromer blood group) [Source:HGNC Symbol;Acc:HGNC:2665] Location: 1:207321519-207386804 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell dendritic cell trophoblast cell stromal cell Specialized T cell goblet cell kidney cell monocyte granulocyte T cell epithelial cell Naive B cell neutrophil Other: Innate Immune System Membrane Trafficking Signaling by GPCR CDK1 Gene Information Basic Information Ensembl ID: ENSG00000170312 Description: cyclin dependent kinase 1 [Source:HGNC Symbol;Acc:HGNC:1722] Location: 10:60778331-60794852 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: progenitor cell Other: Cytokine Signaling in Immune system Cilium Assembly MAPK family signaling cascades CFTR Gene Information Basic Information Ensembl ID: ENSG00000001626 Description: CF transmembrane conductance regulator [Source:HGNC Symbol;Acc:HGNC:1884] Location: 7:117287120-117715971 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stem cell enterocyte epithelial cell progenitor cell ionocyte tuft cell monocyte hepatocyte Other: Macroautophagy Membrane Trafficking ABC-family proteins mediated transport CHGB Gene Information Basic Information Ensembl ID: ENSG00000089199 Description: chromogranin B [Source:HGNC Symbol;Acc:HGNC:1930] Location: 20:5911510-5925353 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron endocrine cell epithelial cell enteroendocrine cell Other: Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein modification EPAS1 Gene Information Basic Information Ensembl ID: ENSG00000116016 Description: endothelial PAS domain protein 1 [Source:HGNC Symbol;Acc:HGNC:3374] Location: 2:46293667-46386697 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte trophoblast cell smooth muscle cell innate lymphoid cell Other: Macroautophagy Cellular responses to stress Transcriptional regulation of pluripotent stem cells ESR1 Gene Information Basic Information Ensembl ID: ENSG00000091831 Description: estrogen receptor 1 [Source:HGNC Symbol;Acc:HGNC:3467] Location: 6:151656691-152129619 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: fibroblast stromal cell plasma cell Other: Cellular responses to stress Post-translational protein modification RNA Polymerase II Transcription FBN1 Gene Information Basic Information Ensembl ID: ENSG00000166147 Description: fibrillin 1 [Source:HGNC Symbol;Acc:HGNC:3603] Location: 15:48408313-48645721 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: fibroblast epithelial cell stem cell stromal cell smooth muscle cell mesenchymal cell Other: Degradation of the extracellular matrix Elastic fibre formation Integrin cell surface interactions GATA3 Gene Information Basic Information Ensembl ID: ENSG00000107485 Description: GATA binding protein 3 [Source:HGNC Symbol;Acc:HGNC:4172] Location: 10:8045378-8075198 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell epithelial cell trophoblast cell developing T cell Regulatory T cell phagocyte natural killer cell CD4+ T cell lymphocyte innate lymphoid cell T helper cell neuron Other: Cytokine Signaling in Immune system Post-translational protein modification RNA Polymerase II Transcription KLHL41 Gene Information Basic Information Ensembl ID: ENSG00000239474 Description: kelch like family member 41 [Source:HGNC Symbol;Acc:HGNC:16905] Location: 2:169509702-169526258 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: skeletal muscle cell muscle cell Other: Adaptive Immune System Post-translational protein modification MLEC Gene Information Basic Information Ensembl ID: ENSG00000110917 Description: malectin [Source:HGNC Symbol;Acc:HGNC:28973] Location: 12:120687149-120704282 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stem cell embryonic cell endothelial cell plasma cell pneumocyte fibroblast melanocyte megakaryocyte Other: Innate Immune System Post-translational protein modification MMRN1 Gene Information Basic Information Ensembl ID: ENSG00000138722 Description: multimerin 1 [Source:HGNC Symbol;Acc:HGNC:7178] Location: 4:89879532-89954629 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell cardiomyocyte megakaryocyte progenitor cell kidney cell Other: Post-translational protein modification Platelet activation, signaling and aggregation MSLN Gene Information Basic Information Ensembl ID: ENSG00000102854 Description: mesothelin [Source:HGNC Symbol;Acc:HGNC:7371] Location: 16:760734-768865 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stem cell goblet cell epithelial cell mesothelial cell Other: Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein modification MUC4 Gene Information Basic Information Ensembl ID: ENSG00000145113 Description: mucin 4%2C cell surface associated [Source:HGNC Symbol;Acc:HGNC:7514] Location: 3:195746765-195811973 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: goblet cell stem cell epithelial cell Other: Diseases of glycosylation Innate Immune System Post-translational protein modification MYC Gene Information Basic Information Ensembl ID: ENSG00000136997 Description: MYC proto-oncogene%2C bHLH transcription factor [Source:HGNC Symbol;Acc:HGNC:7553] Location: 8:127735434-127742951 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pericyte epithelial cell fibroblast stromal cell smooth muscle cell hematopoietic progenitor cell endothelial cell stem cell erythroblast muscle cell progenitor cell transient amplifying cell cancer stem cell B cell erythroid lineage cell Other: Cytokine Signaling in Immune system Signaling by NOTCH Signaling by WNT NTNG1 Gene Information Basic Information Ensembl ID: ENSG00000162631 Description: netrin G1 [Source:HGNC Symbol;Acc:HGNC:23319] Location: 1:107140007-107484923 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell oligodendrocyte precursor cell autonomic neuron bipolar cell glial cell Other: Post-translational protein modification PGR Gene Information Basic Information Ensembl ID: ENSG00000082175 Description: progesterone receptor [Source:HGNC Symbol;Acc:HGNC:8910] Location: 11:101029624-101129813 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cellular responses to stress Post-translational protein modification RNA Polymerase II Transcription PLAUR Gene Information Basic Information Ensembl ID: ENSG00000011422 Description: plasminogen activator%2C urokinase receptor [Source:HGNC Symbol;Acc:HGNC:9053] Location: 19:43646095-43670547 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell neuron macrophage dendritic cell phagocyte stem cell monocyte granulocyte neutrophil myeloid cell mesenchymal stem cell Other: Innate Immune System Post-translational protein modification Dissolution of Fibrin Clot PPARG Gene Information Basic Information Ensembl ID: ENSG00000132170 Description: peroxisome proliferator activated receptor gamma [Source:HGNC Symbol;Acc:HGNC:9236] Location: 3:12287368-12434356 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte epithelial cell stem cell phagocyte adipocyte macrophage tuft cell Other: Epigenetic regulation of gene expression Metabolism of lipids Post-translational protein modification RORA Gene Information Basic Information Ensembl ID: ENSG00000069667 Description: RAR related orphan receptor A [Source:HGNC Symbol;Acc:HGNC:10258] Location: 15:60488284-61229302 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell endothelial cell neuron natural killer cell CD8+ T cell pericyte developing T cell T cell stem cell CD4+ T cell bipolar cell fibroblast stromal cell smooth muscle cell epithelial cell macrophage Other: Cytokine Signaling in Immune system Cellular responses to stress Metabolism of lipids SPTBN1 Gene Information Basic Information Ensembl ID: ENSG00000115306 Description: spectrin beta%2C non-erythrocytic 1 [Source:HGNC Symbol;Acc:HGNC:11275] Location: 2:54456327-54671446 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron adipocyte glial cell stromal cell epithelial cell schwann cell Other: Membrane Trafficking Nephrin family interactions MAPK family signaling cascades TFAP2B Gene Information Basic Information Ensembl ID: ENSG00000008196 Description: transcription factor AP-2 beta [Source:HGNC Symbol;Acc:HGNC:11743] Location: 6:50818723-50847619 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: interneuron endocrine cell stem cell fibroblast melanocyte inhibitory neuron neural crest cell Other: Post-translational protein modification RNA Polymerase II Transcription Gastrulation TGFA Gene Information Basic Information Ensembl ID: ENSG00000163235 Description: transforming growth factor alpha [Source:HGNC Symbol;Acc:HGNC:11765] Location: 2:70447284-70554193 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Membrane Trafficking MAPK family signaling cascades Post-translational protein modification TGFBR2 Gene Information Basic Information Ensembl ID: ENSG00000163513 Description: transforming growth factor beta receptor 2 [Source:HGNC Symbol;Acc:HGNC:11773] Location: 3:30606478-30694249 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell glial cell fibroblast Other: Post-translational protein modification Signaling by TGFB family members Signaling by TGF-beta Receptor Complex in Cancer THY1 Gene Information Basic Information Ensembl ID: ENSG00000154096 Description: Thy-1 cell surface antigen [Source:HGNC Symbol;Acc:HGNC:11801] Location: 11:119415476-119424985 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: fibroblast pericyte stem cell stromal cell smooth muscle cell interneuron mesenchymal stem cell mesenchymal cell mesodermal cell neuron hematopoietic stem cell Other: Post-translational protein modification TNC Gene Information Basic Information Ensembl ID: ENSG00000041982 Description: tenascin C [Source:HGNC Symbol;Acc:HGNC:5318] Location: 9:115019575-115118207 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron pericyte epithelial cell stem cell pneumocyte fibroblast stromal cell smooth muscle cell astrocyte Other: Integrin cell surface interactions Non-integrin membrane-ECM interactions ECM proteoglycans UCHL1 Gene Information Basic Information Ensembl ID: ENSG00000154277 Description: ubiquitin C-terminal hydrolase L1 [Source:HGNC Symbol;Acc:HGNC:12513] Location: 4:41256413-41268455 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell neuron sensory neuron fibroblast interneuron motor neuron developing T cell Other: Post-translational protein modification UMOD Gene Information Basic Information Ensembl ID: ENSG00000169344 Description: uromodulin [Source:HGNC Symbol;Acc:HGNC:12559] Location: 16:20333051-20356301 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell Other: Post-translational protein modification VCAN Gene Information Basic Information Ensembl ID: ENSG00000038427 Description: versican [Source:HGNC Symbol;Acc:HGNC:2464] Location: 5:83471618-83582303 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell fibroblast dendritic cell stem cell embryonic cell stromal cell phagocyte glial cell oligodendrocyte precursor cell epithelial cell schwann cell monocyte myeloid cell macrophage mesangial cell myeloid derived suppressor cell Other: ECM proteoglycans Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein modification VGF Gene Information Basic Information Ensembl ID: ENSG00000128564 Description: VGF nerve growth factor inducible [Source:HGNC Symbol;Acc:HGNC:12684] Location: 7:101162509-101165569 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endocrine cell Other: Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein modification Signaling by Receptor Tyrosine Kinases
Potassium Channels Pathway Hierarchies & Genes Activation of G protein gated Potassium channels (3 genes) Neuronal System Potassium Channels Inwardly rectifying K+ channels G protein gated Potassium channels Activation of G protein gated Potassium channels 3 genes ATP sensitive Potassium channels (1 genes) Neuronal System Potassium Channels Inwardly rectifying K+ channels ATP sensitive Potassium channels 1 genes HCN channels (1 genes) Neuronal System Potassium Channels HCN channels 1 genes	GNB1 Gene Information Basic Information Ensembl ID: ENSG00000078369 Description: G protein subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:4396] Location: 1:1785285-1892292 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: photoreceptor cell monocyte memory B cell dendritic cell Other: Olfactory Signaling Pathway Protein folding Transmission across Chemical Synapses GNG11 Gene Information Basic Information Ensembl ID: ENSG00000127920 Description: G protein subunit gamma 11 [Source:HGNC Symbol;Acc:HGNC:4403] Location: 7:93921735-93928610 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell hematopoietic stem cell smooth muscle cell T cell megakaryocyte Other: Protein folding Transmission across Chemical Synapses Potassium Channels GNGT2 Gene Information Basic Information Ensembl ID: ENSG00000167083 Description: G protein subunit gamma transducin 2 [Source:HGNC Symbol;Acc:HGNC:4412] Location: 17:49202791-49210574 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Transmission across Chemical Synapses Potassium Channels Integration of energy metabolism HCN4 Gene Information Basic Information Ensembl ID: ENSG00000138622 Description: hyperpolarization activated cyclic nucleotide gated potassium channel 4 [Source:HGNC Symbol;Acc:HGNC:16882] Location: 15:73319859-73368958 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: cardiomyocyte Other: Potassium Channels KCNJ8 Gene Information Basic Information Ensembl ID: ENSG00000121361 Description: potassium inwardly rectifying channel subfamily J member 8 [Source:HGNC Symbol;Acc:HGNC:6269] Location: 12:21764955-21775600 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pericyte Other: Potassium Channels
Processing of Capped Intron-Containing Pre-mRNA Pathway Hierarchies & Genes mRNA Splicing - Major Pathway (1 genes) Metabolism of RNA Processing of Capped Intron-Containing Pre-mRNA mRNA Splicing mRNA Splicing - Major Pathway 1 genes	CTNNBL1 Gene Information Basic Information Ensembl ID: ENSG00000132792 Description: catenin beta like 1 [Source:HGNC Symbol;Acc:HGNC:15879] Location: 20:37694030-37872129 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: mast cell basophil erythroid progenitor cell Other: Processing of Capped Intron-Containing Pre-mRNA
Protein folding Pathway Hierarchies & Genes Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding (3 genes) Metabolism of proteins Protein folding Chaperonin-mediated protein folding Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding 3 genes	GNB1 Gene Information Basic Information Ensembl ID: ENSG00000078369 Description: G protein subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:4396] Location: 1:1785285-1892292 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: photoreceptor cell monocyte memory B cell dendritic cell Other: Olfactory Signaling Pathway Protein folding Transmission across Chemical Synapses GNG11 Gene Information Basic Information Ensembl ID: ENSG00000127920 Description: G protein subunit gamma 11 [Source:HGNC Symbol;Acc:HGNC:4403] Location: 7:93921735-93928610 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell hematopoietic stem cell smooth muscle cell T cell megakaryocyte Other: Protein folding Transmission across Chemical Synapses Potassium Channels GNGT2 Gene Information Basic Information Ensembl ID: ENSG00000167083 Description: G protein subunit gamma transducin 2 [Source:HGNC Symbol;Acc:HGNC:4412] Location: 17:49202791-49210574 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Transmission across Chemical Synapses Potassium Channels Integration of energy metabolism
Protein-protein interactions at synapses Pathway Hierarchies & Genes Neurexins and neuroligins (1 genes) Neuronal System Protein-protein interactions at synapses Neurexins and neuroligins 1 genes Receptor-type tyrosine-protein phosphatases (1 genes) Neuronal System Protein-protein interactions at synapses Receptor-type tyrosine-protein phosphatases 1 genes	NRXN3 Gene Information Basic Information Ensembl ID: ENSG00000021645 Description: neurexin 3 [Source:HGNC Symbol;Acc:HGNC:8010] Location: 14:78170373-79868291 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron interneuron epithelial cell glial cell intercalated cell smooth muscle cell schwann cell astrocyte Other: Protein-protein interactions at synapses PPFIBP1 Gene Information Basic Information Ensembl ID: ENSG00000110841 Description: PPFIA binding protein 1 [Source:HGNC Symbol;Acc:HGNC:9249] Location: 12:27523431-27695564 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell fibroblast glial cell stromal cell Other: Protein-protein interactions at synapses Signaling by ALK in cancer
RNA Polymerase II Transcription Pathway Hierarchies & Genes Regulation of TP53 Degradation (2 genes) Gene expression (Transcription) RNA Polymerase II Transcription Generic Transcription Pathway Transcriptional Regulation by TP53 Regulation of TP53 Activity Regulation of TP53 Expression and Degradation Regulation of TP53 Degradation 2 genes Regulation of TP53 Expression (1 genes) Gene expression (Transcription) RNA Polymerase II Transcription Generic Transcription Pathway Transcriptional Regulation by TP53 Regulation of TP53 Activity Regulation of TP53 Expression and Degradation Regulation of TP53 Expression 1 genes RUNX2 regulates osteoblast differentiation (4 genes) Gene expression (Transcription) RNA Polymerase II Transcription Generic Transcription Pathway Transcriptional regulation by RUNX2 RUNX2 regulates bone development RUNX2 regulates osteoblast differentiation 4 genes TP53 Regulates Transcription of Genes Involved in Cytochrome C Release (1 genes) Gene expression (Transcription) RNA Polymerase II Transcription Generic Transcription Pathway Transcriptional Regulation by TP53 TP53 Regulates Transcription of Cell Death Genes TP53 Regulates Transcription of Genes Involved in Cytochrome C Release 1 genes TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest (1 genes) Gene expression (Transcription) RNA Polymerase II Transcription Generic Transcription Pathway Transcriptional Regulation by TP53 TP53 Regulates Transcription of Cell Cycle Genes TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest 1 genes TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain (1 genes) Gene expression (Transcription) RNA Polymerase II Transcription Generic Transcription Pathway Transcriptional Regulation by TP53 TP53 Regulates Transcription of Cell Cycle Genes TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain 1 genes TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain (1 genes) Gene expression (Transcription) RNA Polymerase II Transcription Generic Transcription Pathway Transcriptional Regulation by TP53 TP53 Regulates Transcription of Cell Death Genes TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain 1 genes MECP2 regulates neuronal receptors and channels (1 genes) Gene expression (Transcription) RNA Polymerase II Transcription Generic Transcription Pathway Transcriptional Regulation by MECP2 MECP2 regulates neuronal receptors and channels 1 genes MECP2 regulates transcription factors (1 genes) Gene expression (Transcription) RNA Polymerase II Transcription Generic Transcription Pathway Transcriptional Regulation by MECP2 MECP2 regulates transcription factors 1 genes MECP2 regulates transcription of genes involved in GABA signaling (1 genes) Gene expression (Transcription) RNA Polymerase II Transcription Generic Transcription Pathway Transcriptional Regulation by MECP2 MECP2 regulates transcription of genes involved in GABA signaling 1 genes Negative regulation of activity of TFAP2 (AP-2) family transcription factors (1 genes) Gene expression (Transcription) RNA Polymerase II Transcription Generic Transcription Pathway Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors Negative regulation of activity of TFAP2 (AP-2) family transcription factors 1 genes RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs) (3 genes) Gene expression (Transcription) RNA Polymerase II Transcription Generic Transcription Pathway Transcriptional regulation by RUNX1 RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs) 3 genes RUNX1 regulates estrogen receptor mediated transcription (1 genes) Gene expression (Transcription) RNA Polymerase II Transcription Generic Transcription Pathway Transcriptional regulation by RUNX1 RUNX1 regulates estrogen receptor mediated transcription 1 genes RUNX1 regulates expression of components of tight junctions (1 genes) Gene expression (Transcription) RNA Polymerase II Transcription Generic Transcription Pathway Transcriptional regulation by RUNX1 RUNX1 regulates expression of components of tight junctions 1 genes RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function (2 genes) Gene expression (Transcription) RNA Polymerase II Transcription Generic Transcription Pathway Transcriptional regulation by RUNX1 RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function 2 genes RUNX1 regulates transcription of genes involved in differentiation of HSCs (2 genes) Gene expression (Transcription) RNA Polymerase II Transcription Generic Transcription Pathway Transcriptional regulation by RUNX1 RUNX1 regulates transcription of genes involved in differentiation of HSCs 2 genes RUNX1 regulates transcription of genes involved in interleukin signaling (1 genes) Gene expression (Transcription) RNA Polymerase II Transcription Generic Transcription Pathway Transcriptional regulation by RUNX1 RUNX1 regulates transcription of genes involved in interleukin signaling 1 genes RUNX3 Regulates Immune Response and Cell Migration (2 genes) Gene expression (Transcription) RNA Polymerase II Transcription Generic Transcription Pathway Transcriptional regulation by RUNX3 RUNX3 Regulates Immune Response and Cell Migration 2 genes RUNX3 regulates CDKN1A transcription (1 genes) Gene expression (Transcription) RNA Polymerase II Transcription Generic Transcription Pathway Transcriptional regulation by RUNX3 RUNX3 regulates CDKN1A transcription 1 genes RUNX3 regulates NOTCH signaling (1 genes) Gene expression (Transcription) RNA Polymerase II Transcription Generic Transcription Pathway Transcriptional regulation by RUNX3 RUNX3 regulates NOTCH signaling 1 genes RUNX3 regulates WNT signaling (2 genes) Gene expression (Transcription) RNA Polymerase II Transcription Generic Transcription Pathway Transcriptional regulation by RUNX3 RUNX3 regulates WNT signaling 2 genes Regulation of MECP2 expression and activity (1 genes) Gene expression (Transcription) RNA Polymerase II Transcription Generic Transcription Pathway Transcriptional Regulation by MECP2 Regulation of MECP2 expression and activity 1 genes Regulation of RUNX2 expression and activity (1 genes) Gene expression (Transcription) RNA Polymerase II Transcription Generic Transcription Pathway Transcriptional regulation by RUNX2 Regulation of RUNX2 expression and activity 1 genes TFAP2 (AP-2) family regulates transcription of cell cycle factors (1 genes) Gene expression (Transcription) RNA Polymerase II Transcription Generic Transcription Pathway Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors TFAP2 (AP-2) family regulates transcription of cell cycle factors 1 genes TFAP2 (AP-2) family regulates transcription of growth factors and their receptors (4 genes) Gene expression (Transcription) RNA Polymerase II Transcription Generic Transcription Pathway Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors TFAP2 (AP-2) family regulates transcription of growth factors and their receptors 4 genes Nuclear Receptor transcription pathway (3 genes) Gene expression (Transcription) RNA Polymerase II Transcription Generic Transcription Pathway Nuclear Receptor transcription pathway 3 genes Transcriptional Regulation by MECP2 (1 genes) Gene expression (Transcription) RNA Polymerase II Transcription Generic Transcription Pathway Transcriptional Regulation by MECP2 1 genes Transcriptional Regulation by VENTX (1 genes) Gene expression (Transcription) RNA Polymerase II Transcription Generic Transcription Pathway Transcriptional Regulation by VENTX 1 genes Transcriptional regulation by RUNX2 (1 genes) Gene expression (Transcription) RNA Polymerase II Transcription Generic Transcription Pathway Transcriptional regulation by RUNX2 1 genes	AR Gene Information Basic Information Ensembl ID: ENSG00000169083 Description: androgen receptor [Source:HGNC Symbol;Acc:HGNC:644] Location: X:67544021-67730619 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: fibroblast stromal cell epithelial cell adipocyte Other: Cellular responses to stress Post-translational protein modification RNA Polymerase II Transcription CAMK2B Gene Information Basic Information Ensembl ID: ENSG00000058404 Description: calcium/calmodulin dependent protein kinase II beta [Source:HGNC Symbol;Acc:HGNC:1461] Location: 7:44210019-44334577 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: interneuron neuron Other: Transmission across Chemical Synapses Cytokine Signaling in Immune system Cellular responses to stress CDK1 Gene Information Basic Information Ensembl ID: ENSG00000170312 Description: cyclin dependent kinase 1 [Source:HGNC Symbol;Acc:HGNC:1722] Location: 10:60778331-60794852 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: progenitor cell Other: Cytokine Signaling in Immune system Cilium Assembly MAPK family signaling cascades CLDN5 Gene Information Basic Information Ensembl ID: ENSG00000184113 Description: claudin 5 [Source:HGNC Symbol;Acc:HGNC:2047] Location: 22:19523024-19527545 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte platelet Other: Cell junction organization RNA Polymerase II Transcription CNOT6L Gene Information Basic Information Ensembl ID: ENSG00000138767 Description: CCR4-NOT transcription complex subunit 6 like [Source:HGNC Symbol;Acc:HGNC:18042] Location: 4:77713387-77819615 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell endothelial cell natural killer cell CD8+ T cell developing T cell Regulatory T cell T cell Specialized T cell CD4+ T cell lymphoid progenitor cell Other: Deadenylation-dependent mRNA decay RNA Polymerase II Transcription Maternal to zygotic transition (MZT) CSF1R Gene Information Basic Information Ensembl ID: ENSG00000182578 Description: colony stimulating factor 1 receptor [Source:HGNC Symbol;Acc:HGNC:2433] Location: 5:150053291-150113372 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron dendritic cell macrophage phagocyte monocyte antigen presenting cell hematopoietic cell microglia Macrophage-dendritic cell progenitor Other: Cytokine Signaling in Immune system RNA Polymerase II Transcription CTLA4 Gene Information Basic Information Ensembl ID: ENSG00000163599 Description: cytotoxic T-lymphocyte associated protein 4 [Source:HGNC Symbol;Acc:HGNC:2505] Location: 2:203853888-203873965 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: developing T cell Regulatory T cell CD4+ T cell CD8+ T cell immune cell Other: Adaptive Immune System RNA Polymerase II Transcription CTNNB1 Gene Information Basic Information Ensembl ID: ENSG00000168036 Description: catenin beta 1 [Source:HGNC Symbol;Acc:HGNC:2514] Location: 3:41194741-41260096 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell endothelial cell epithelial cell stem cell phagocyte adrenal cortical cell fibroblast monocyte Specialized T cell melanocyte M cell Other: Apoptosis Innate Immune System Signaling by WNT EGFR Gene Information Basic Information Ensembl ID: ENSG00000146648 Description: epidermal growth factor receptor [Source:HGNC Symbol;Acc:HGNC:3236] Location: 7:55019017-55211628 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell endothelial cell trophoblast cell hepatocyte stem cell adipocyte fibroblast muscle cell stromal cell mesenchymal stem cell skeletal muscle cell cancer cell Other: Signaling by NOTCH Membrane Trafficking Signaling by GPCR ESR1 Gene Information Basic Information Ensembl ID: ENSG00000091831 Description: estrogen receptor 1 [Source:HGNC Symbol;Acc:HGNC:3467] Location: 6:151656691-152129619 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: fibroblast stromal cell plasma cell Other: Cellular responses to stress Post-translational protein modification RNA Polymerase II Transcription FOXP3 Gene Information Basic Information Ensembl ID: ENSG00000049768 Description: forkhead box P3 [Source:HGNC Symbol;Acc:HGNC:6106] Location: X:49250438-49264800 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: Regulatory T cell CD4+ T cell immune cell myeloid derived suppressor cell CD8+ T cell T cell Other: RNA Polymerase II Transcription GAD2 Gene Information Basic Information Ensembl ID: ENSG00000136750 Description: glutamate decarboxylase 2 [Source:HGNC Symbol;Acc:HGNC:4093] Location: 10:26216665-26304558 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: interneuron endocrine cell Other: Transmission across Chemical Synapses RNA Polymerase II Transcription GATA2 Gene Information Basic Information Ensembl ID: ENSG00000179348 Description: GATA binding protein 2 [Source:HGNC Symbol;Acc:HGNC:4171] Location: 3:128479427-128493201 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell endothelial cell trophoblast cell mast cell basophil progenitor cell Other: RNA Polymerase II Transcription Transcriptional regulation of granulopoiesis Factors involved in megakaryocyte development and platelet production GATA3 Gene Information Basic Information Ensembl ID: ENSG00000107485 Description: GATA binding protein 3 [Source:HGNC Symbol;Acc:HGNC:4172] Location: 10:8045378-8075198 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell epithelial cell trophoblast cell developing T cell Regulatory T cell phagocyte natural killer cell CD4+ T cell lymphocyte innate lymphoid cell T helper cell neuron Other: Cytokine Signaling in Immune system Post-translational protein modification RNA Polymerase II Transcription GLI3 Gene Information Basic Information Ensembl ID: ENSG00000106571 Description: GLI family zinc finger 3 [Source:HGNC Symbol;Acc:HGNC:4319] Location: 7:41960949-42264100 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron pericyte glial cell stromal cell smooth muscle cell epithelial cell astrocyte endothelial cell Other: Signaling by Hedgehog RNA Polymerase II Transcription GPAM Gene Information Basic Information Ensembl ID: ENSG00000119927 Description: glycerol-3-phosphate acyltransferase%2C mitochondrial [Source:HGNC Symbol;Acc:HGNC:24865] Location: 10:112149865-112215377 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: adipocyte Other: Epigenetic regulation of gene expression Metabolism of lipids RNA Polymerase II Transcription HEY2 Gene Information Basic Information Ensembl ID: ENSG00000135547 Description: hes related family bHLH transcription factor with YRPW motif 2 [Source:HGNC Symbol;Acc:HGNC:4881] Location: 6:125747664-125761269 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: smooth muscle cell cardiomyocyte endothelial cell Other: Signaling by NOTCH RNA Polymerase II Transcription Cardiogenesis IL2RA Gene Information Basic Information Ensembl ID: ENSG00000134460 Description: interleukin 2 receptor subunit alpha [Source:HGNC Symbol;Acc:HGNC:6008] Location: 10:6010689-6062370 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: Regulatory T cell macrophage dendritic cell developing T cell B cell mast cell CD8+ T cell T cell Follicular B cell Other: Cytokine Signaling in Immune system MAPK family signaling cascades RNA Polymerase II Transcription ITGA2B Gene Information Basic Information Ensembl ID: ENSG00000005961 Description: integrin subunit alpha 2b [Source:HGNC Symbol;Acc:HGNC:6138] Location: 17:44372180-44389649 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: myeloid cell basophil platelet progenitor cell megakaryocyte Other: Integrin cell surface interactions ECM proteoglycans Integrin signaling ITGA4 Gene Information Basic Information Ensembl ID: ENSG00000115232 Description: integrin subunit alpha 4 [Source:HGNC Symbol;Acc:HGNC:6140] Location: 2:181457202-181538940 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: natural killer cell developing T cell Naive B cell Specialized T cell mast cell lymphoid progenitor cell CD8+ T cell erythroid lineage cell T cell memory T cell progenitor cell erythroblast projection neuron Other: Cell surface interactions at the vascular wall Integrin cell surface interactions Adaptive Immune System ITGAL Gene Information Basic Information Ensembl ID: ENSG00000005844 Description: integrin subunit alpha L [Source:HGNC Symbol;Acc:HGNC:6148] Location: 16:30472658-30523567 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell developing T cell T cell Specialized T cell CD4+ T cell lymphoid progenitor cell CD8+ T cell natural killer cell innate lymphoid cell leukocyte monocyte Other: Adaptive Immune System Innate Immune System Cell surface interactions at the vascular wall JAG1 Gene Information Basic Information Ensembl ID: ENSG00000101384 Description: jagged canonical Notch ligand 1 [Source:HGNC Symbol;Acc:HGNC:6188] Location: 20:10637684-10673999 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte smooth muscle cell mural cell Other: Signaling by NOTCH RNA Polymerase II Transcription Signaling by Rho GTPases, Miro GTPases and RHOBTB3 KIT Gene Information Basic Information Ensembl ID: ENSG00000157404 Description: KIT proto-oncogene%2C receptor tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:6342] Location: 4:54657267-54740783 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell intercalated cell tuft cell brush cell mast cell progenitor cell stem cell melanocyte Specialized T cell hematopoietic progenitor cell hematopoietic cell cancer stem cell stromal cell interstitial cell Other: MAPK family signaling cascades RNA Polymerase II Transcription Intracellular signaling by second messengers LEF1 Gene Information Basic Information Ensembl ID: ENSG00000138795 Description: lymphoid enhancer binding factor 1 [Source:HGNC Symbol;Acc:HGNC:6551] Location: 4:108047545-108168956 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell developing T cell T cell Regulatory T cell Naive B cell CD4+ T cell lymphoid progenitor cell innate lymphoid cell Other: Signaling by WNT RNA Polymerase II Transcription Transcriptional regulation of granulopoiesis LIFR Gene Information Basic Information Ensembl ID: ENSG00000113594 Description: LIF receptor subunit alpha [Source:HGNC Symbol;Acc:HGNC:6597] Location: 5:38474668-38608354 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: bergmann glial cell endothelial cell trophoblast cell stromal cell osteoblast astrocyte glial cell neural stem cell Other: Cytokine Signaling in Immune system RNA Polymerase II Transcription MET Gene Information Basic Information Ensembl ID: ENSG00000105976 Description: MET proto-oncogene%2C receptor tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:7029] Location: 7:116672196-116798377 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell pancreatic cell melanocyte Other: MAPK family signaling cascades RNA Polymerase II Transcription Intracellular signaling by second messengers MYC Gene Information Basic Information Ensembl ID: ENSG00000136997 Description: MYC proto-oncogene%2C bHLH transcription factor [Source:HGNC Symbol;Acc:HGNC:7553] Location: 8:127735434-127742951 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pericyte epithelial cell fibroblast stromal cell smooth muscle cell hematopoietic progenitor cell endothelial cell stem cell erythroblast muscle cell progenitor cell transient amplifying cell cancer stem cell B cell erythroid lineage cell Other: Cytokine Signaling in Immune system Signaling by NOTCH Signaling by WNT MYL9 Gene Information Basic Information Ensembl ID: ENSG00000101335 Description: myosin light chain 9 [Source:HGNC Symbol;Acc:HGNC:15754] Location: 20:36541497-36551447 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell pericyte stellate cell fibroblast stromal cell smooth muscle cell platelet megakaryocyte Other: Smooth Muscle Contraction RNA Polymerase II Transcription Nervous system development PERP Gene Information Basic Information Ensembl ID: ENSG00000112378 Description: p53 apoptosis effector related to PMP22 [Source:HGNC Symbol;Acc:HGNC:17637] Location: 6:138088505-138107419 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Keratinization RNA Polymerase II Transcription PGR Gene Information Basic Information Ensembl ID: ENSG00000082175 Description: progesterone receptor [Source:HGNC Symbol;Acc:HGNC:8910] Location: 11:101029624-101129813 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cellular responses to stress Post-translational protein modification RNA Polymerase II Transcription PPARG Gene Information Basic Information Ensembl ID: ENSG00000132170 Description: peroxisome proliferator activated receptor gamma [Source:HGNC Symbol;Acc:HGNC:9236] Location: 3:12287368-12434356 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte epithelial cell stem cell phagocyte adipocyte macrophage tuft cell Other: Epigenetic regulation of gene expression Metabolism of lipids Post-translational protein modification PPP2R5C Gene Information Basic Information Ensembl ID: ENSG00000078304 Description: protein phosphatase 2 regulatory subunit B'gamma [Source:HGNC Symbol;Acc:HGNC:9311] Location: 14:101761709-101927989 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell natural killer cell CD8+ T cell developing T cell Specialized T cell CD4+ T cell T cell Other: Adaptive Immune System Signaling by WNT Platelet homeostasis PRDM1 Gene Information Basic Information Ensembl ID: ENSG00000057657 Description: PR/SET domain 1 [Source:HGNC Symbol;Acc:HGNC:9346] Location: 6:105993463-106109939 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell developing T cell Regulatory T cell embryonic cell plasma cell Specialized T cell CD4+ T cell CD8+ T cell T cell plasmablast Other: RNA Polymerase II Transcription Signaling by Receptor Tyrosine Kinases Specification of primordial germ cells RORA Gene Information Basic Information Ensembl ID: ENSG00000069667 Description: RAR related orphan receptor A [Source:HGNC Symbol;Acc:HGNC:10258] Location: 15:60488284-61229302 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell endothelial cell neuron natural killer cell CD8+ T cell pericyte developing T cell T cell stem cell CD4+ T cell bipolar cell fibroblast stromal cell smooth muscle cell epithelial cell macrophage Other: Cytokine Signaling in Immune system Cellular responses to stress Metabolism of lipids RORB Gene Information Basic Information Ensembl ID: ENSG00000198963 Description: RAR related orphan receptor B [Source:HGNC Symbol;Acc:HGNC:10259] Location: 9:74497335-74693177 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stromal cell fibroblast neuron inhibitory neuron excitatory neuron Other: RNA Polymerase II Transcription Expression of BMAL (ARNTL), CLOCK, and NPAS2 RUNX3 Gene Information Basic Information Ensembl ID: ENSG00000020633 Description: RUNX family transcription factor 3 [Source:HGNC Symbol;Acc:HGNC:10473] Location: 1:24899511-24965121 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell natural killer cell developing T cell Specialized T cell CD8+ T cell progenitor cell T cell lymphocyte Other: Signaling by WNT RNA Polymerase II Transcription SFN Gene Information Basic Information Ensembl ID: ENSG00000175793 Description: stratifin [Source:HGNC Symbol;Acc:HGNC:10773] Location: 1:26863149-26864456 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Apoptosis Membrane Trafficking Cell Cycle Checkpoints SOX2 Gene Information Basic Information Ensembl ID: ENSG00000181449 Description: SRY-box transcription factor 2 [Source:HGNC Symbol;Acc:HGNC:11195] Location: 3:181711925-181714436 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell pericyte progenitor cell embryonic cell fibroblast glial cell neural crest cell stem cell cancer stem cell ectodermal cell basal cell Other: Cytokine Signaling in Immune system Signaling by WNT Transcriptional regulation of pluripotent stem cells SOX9 Gene Information Basic Information Ensembl ID: ENSG00000125398 Description: SRY-box transcription factor 9 [Source:HGNC Symbol;Acc:HGNC:11204] Location: 17:72121020-72126416 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stem cell glial cell stromal cell tuft cell fibroblast ionocyte epithelial cell M cell chondrocyte cancer stem cell progenitor cell ductal cell Other: Signaling by WNT RNA Polymerase II Transcription Transcriptional regulation of testis differentiation STAT1 Gene Information Basic Information Ensembl ID: ENSG00000115415 Description: signal transducer and activator of transcription 1 [Source:HGNC Symbol;Acc:HGNC:11362] Location: 2:190908460-191020960 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell Regulatory T cell CD8+ T cell leukocyte secretory cell monocyte epithelial cell Other: Cytokine Signaling in Immune system Signaling by NOTCH RNA Polymerase II Transcription TFAP2B Gene Information Basic Information Ensembl ID: ENSG00000008196 Description: transcription factor AP-2 beta [Source:HGNC Symbol;Acc:HGNC:11743] Location: 6:50818723-50847619 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: interneuron endocrine cell stem cell fibroblast melanocyte inhibitory neuron neural crest cell Other: Post-translational protein modification RNA Polymerase II Transcription Gastrulation TGFA Gene Information Basic Information Ensembl ID: ENSG00000163235 Description: transforming growth factor alpha [Source:HGNC Symbol;Acc:HGNC:11765] Location: 2:70447284-70554193 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Membrane Trafficking MAPK family signaling cascades Post-translational protein modification TP63 Gene Information Basic Information Ensembl ID: ENSG00000073282 Description: tumor protein p63 [Source:HGNC Symbol;Acc:HGNC:15979] Location: 3:189631389-189897276 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell intermediate cell Other: Apoptosis Regulated Necrosis RNA Polymerase II Transcription WWTR1 Gene Information Basic Information Ensembl ID: ENSG00000018408 Description: WW domain containing transcription regulator 1 [Source:HGNC Symbol;Acc:HGNC:24042] Location: 3:149517235-149736714 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell Other: Signaling by Hippo Cardiac conduction RNA Polymerase II Transcription
RNA Polymerase III Transcription Pathway Hierarchies & Genes RNA Polymerase III Abortive And Retractive Initiation (1 genes) Gene expression (Transcription) RNA Polymerase III Transcription RNA Polymerase III Transcription Termination RNA Polymerase III Abortive And Retractive Initiation 1 genes	NFIB Gene Information Basic Information Ensembl ID: ENSG00000147862 Description: nuclear factor I B [Source:HGNC Symbol;Acc:HGNC:7785] Location: 9:14081843-14398983 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron epithelial cell stem cell fibroblast stromal cell hepatocyte interneuron Other: RNA Polymerase III Transcription
RORA,B,C and NR1D1 (REV-ERBA) regulate gene expression Pathway Hierarchies & Genes RORA,B,C and NR1D1 (REV-ERBA) regulate gene expression (1 genes) Circadian clock RORA,B,C and NR1D1 (REV-ERBA) regulate gene expression 1 genes	RORA Gene Information Basic Information Ensembl ID: ENSG00000069667 Description: RAR related orphan receptor A [Source:HGNC Symbol;Acc:HGNC:10258] Location: 15:60488284-61229302 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell endothelial cell neuron natural killer cell CD8+ T cell pericyte developing T cell T cell stem cell CD4+ T cell bipolar cell fibroblast stromal cell smooth muscle cell epithelial cell macrophage Other: Cytokine Signaling in Immune system Cellular responses to stress Metabolism of lipids
Regulated Necrosis Pathway Hierarchies & Genes CASP8 activity is inhibited (1 genes) Programmed Cell Death Regulated Necrosis RIPK1-mediated regulated necrosis Regulation of necroptotic cell death CASP8 activity is inhibited 1 genes Pyroptosis (1 genes) Programmed Cell Death Regulated Necrosis Pyroptosis 1 genes	TNFSF10 Gene Information Basic Information Ensembl ID: ENSG00000121858 Description: TNF superfamily member 10 [Source:HGNC Symbol;Acc:HGNC:11925] Location: 3:172505508-172523475 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell epithelial cell monocyte mast cell secretory cell Other: Apoptosis Regulated Necrosis Death Receptor Signaling TP63 Gene Information Basic Information Ensembl ID: ENSG00000073282 Description: tumor protein p63 [Source:HGNC Symbol;Acc:HGNC:15979] Location: 3:189631389-189897276 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell intermediate cell Other: Apoptosis Regulated Necrosis RNA Polymerase II Transcription
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Pathway Hierarchies & Genes Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) (10 genes) Metabolism of proteins Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) 10 genes	APP Gene Information Basic Information Ensembl ID: ENSG00000142192 Description: amyloid beta precursor protein [Source:HGNC Symbol;Acc:HGNC:620] Location: 21:25880535-26171128 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron interneuron dendritic cell epithelial cell stem cell fibroblast Other: Cytokine Signaling in Immune system Innate Immune System Membrane Trafficking CHGB Gene Information Basic Information Ensembl ID: ENSG00000089199 Description: chromogranin B [Source:HGNC Symbol;Acc:HGNC:1930] Location: 20:5911510-5925353 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron endocrine cell epithelial cell enteroendocrine cell Other: Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein modification FBN1 Gene Information Basic Information Ensembl ID: ENSG00000166147 Description: fibrillin 1 [Source:HGNC Symbol;Acc:HGNC:3603] Location: 15:48408313-48645721 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: fibroblast epithelial cell stem cell stromal cell smooth muscle cell mesenchymal cell Other: Degradation of the extracellular matrix Elastic fibre formation Integrin cell surface interactions IGF1 Gene Information Basic Information Ensembl ID: ENSG00000017427 Description: insulin like growth factor 1 [Source:HGNC Symbol;Acc:HGNC:5464] Location: 12:102395874-102481744 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron fibroblast endocrine cell stem cell stromal cell epithelial cell adipocyte macrophage Other: Peptide hormone metabolism Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Platelet activation, signaling and aggregation IGFBP2 Gene Information Basic Information Ensembl ID: ENSG00000115457 Description: insulin like growth factor binding protein 2 [Source:HGNC Symbol;Acc:HGNC:5471] Location: 2:216632828-216664436 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron fibroblast pericyte thymic epithelial cell stem cell embryonic cell hematopoietic stem cell stromal cell endothelial cell epithelial cell glial cell smooth muscle cell oligodendrocyte precursor cell Other: Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) MMP2 Gene Information Basic Information Ensembl ID: ENSG00000087245 Description: matrix metallopeptidase 2 [Source:HGNC Symbol;Acc:HGNC:7166] Location: 16:55389700-55506691 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: mesenchymal cell smooth muscle cell Other: Cytokine Signaling in Immune system Degradation of the extracellular matrix Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) MSLN Gene Information Basic Information Ensembl ID: ENSG00000102854 Description: mesothelin [Source:HGNC Symbol;Acc:HGNC:7371] Location: 16:760734-768865 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stem cell goblet cell epithelial cell mesothelial cell Other: Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein modification TNC Gene Information Basic Information Ensembl ID: ENSG00000041982 Description: tenascin C [Source:HGNC Symbol;Acc:HGNC:5318] Location: 9:115019575-115118207 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron pericyte epithelial cell stem cell pneumocyte fibroblast stromal cell smooth muscle cell astrocyte Other: Integrin cell surface interactions Non-integrin membrane-ECM interactions ECM proteoglycans VCAN Gene Information Basic Information Ensembl ID: ENSG00000038427 Description: versican [Source:HGNC Symbol;Acc:HGNC:2464] Location: 5:83471618-83582303 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell fibroblast dendritic cell stem cell embryonic cell stromal cell phagocyte glial cell oligodendrocyte precursor cell epithelial cell schwann cell monocyte myeloid cell macrophage mesangial cell myeloid derived suppressor cell Other: ECM proteoglycans Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein modification VGF Gene Information Basic Information Ensembl ID: ENSG00000128564 Description: VGF nerve growth factor inducible [Source:HGNC Symbol;Acc:HGNC:12684] Location: 7:101162509-101165569 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endocrine cell Other: Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein modification Signaling by Receptor Tyrosine Kinases
Regulation of beta-cell development Pathway Hierarchies & Genes Regulation of gene expression in early pancreatic precursor cells (2 genes) Developmental Biology Regulation of beta-cell development Regulation of gene expression in beta cells 1 genes Regulation of gene expression in early pancreatic precursor cells 1 genes Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells (1 genes) Developmental Biology Regulation of beta-cell development Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells 1 genes	INSM1 Gene Information Basic Information Ensembl ID: ENSG00000173404 Description: INSM transcriptional repressor 1 [Source:HGNC Symbol;Acc:HGNC:6090] Location: 20:20368104-20370949 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron endocrine cell pancreatic cell epithelial cell enteroendocrine cell pneumocyte progenitor cell Other: Regulation of beta-cell development MAFA Gene Information Basic Information Ensembl ID: ENSG00000182759 Description: MAF bZIP transcription factor A [Source:HGNC Symbol;Acc:HGNC:23145] Location: 8:143419182-143430732 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron Other: Regulation of beta-cell development PDX1 Gene Information Basic Information Ensembl ID: ENSG00000139515 Description: pancreatic and duodenal homeobox 1 [Source:HGNC Symbol;Acc:HGNC:6107] Location: 13:27920000-27926313 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Regulation of beta-cell development Developmental Cell Lineages
Reversible hydration of carbon dioxide Pathway Hierarchies & Genes Reversible hydration of carbon dioxide (1 genes) Metabolism Reversible hydration of carbon dioxide 1 genes	CA2 Gene Information Basic Information Ensembl ID: ENSG00000104267 Description: carbonic anhydrase 2 [Source:HGNC Symbol;Acc:HGNC:1373] Location: 8:85463968-85481493 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell erythrocyte endothelial cell glial cell stromal cell fibroblast enterocyte platelet erythroid lineage cell innate lymphoid cell hepatocyte megakaryocyte intercalated cell Other: Reversible hydration of carbon dioxide O2/CO2 exchange in erythrocytes Developmental Cell Lineages
SLC-mediated transmembrane transport Pathway Hierarchies & Genes Organic anion transport (1 genes) Transport of small molecules SLC-mediated transmembrane transport Transport of bile salts and organic acids, metal ions and amine compounds Organic cation/anion/zwitterion transport Organic anion transport 1 genes Type II Na+/Pi cotransporters (1 genes) Transport of small molecules SLC-mediated transmembrane transport Transport of inorganic cations/anions and amino acids/oligopeptides Sodium-coupled phosphate cotransporters Type II Na+/Pi cotransporters 1 genes Amino acid transport across the plasma membrane (1 genes) Transport of small molecules SLC-mediated transmembrane transport Transport of inorganic cations/anions and amino acids/oligopeptides Amino acid transport across the plasma membrane 1 genes Bicarbonate transporters (1 genes) Transport of small molecules SLC-mediated transmembrane transport Transport of inorganic cations/anions and amino acids/oligopeptides Bicarbonate transporters 1 genes Cation-coupled Chloride cotransporters (2 genes) Transport of small molecules SLC-mediated transmembrane transport Transport of inorganic cations/anions and amino acids/oligopeptides Cation-coupled Chloride cotransporters 2 genes Inositol transporters (1 genes) Transport of small molecules SLC-mediated transmembrane transport Transport of bile salts and organic acids, metal ions and amine compounds Inositol transporters 1 genes Multifunctional anion exchangers (3 genes) Transport of small molecules SLC-mediated transmembrane transport Transport of inorganic cations/anions and amino acids/oligopeptides Multifunctional anion exchangers 3 genes Na+/Cl- dependent neurotransmitter transporters (1 genes) Transport of small molecules SLC-mediated transmembrane transport Transport of bile salts and organic acids, metal ions and amine compounds Na+/Cl- dependent neurotransmitter transporters 1 genes Organic anion transporters (1 genes) Transport of small molecules SLC-mediated transmembrane transport Transport of inorganic cations/anions and amino acids/oligopeptides Organic anion transporters 1 genes Rhesus glycoproteins mediate ammonium transport (1 genes) Transport of small molecules SLC-mediated transmembrane transport Transport of bile salts and organic acids, metal ions and amine compounds Rhesus glycoproteins mediate ammonium transport 1 genes Sodium-coupled sulphate, di- and tri-carboxylate transporters (1 genes) Transport of small molecules SLC-mediated transmembrane transport Transport of bile salts and organic acids, metal ions and amine compounds Sodium-coupled sulphate, di- and tri-carboxylate transporters 1 genes Sodium/Calcium exchangers (1 genes) Transport of small molecules SLC-mediated transmembrane transport Transport of inorganic cations/anions and amino acids/oligopeptides Sodium/Calcium exchangers 1 genes Sodium/Proton exchangers (1 genes) Transport of small molecules SLC-mediated transmembrane transport Transport of inorganic cations/anions and amino acids/oligopeptides Sodium/Proton exchangers 1 genes Transport of organic anions (1 genes) Transport of small molecules SLC-mediated transmembrane transport Transport of vitamins, nucleosides, and related molecules Transport of organic anions 1 genes Transport of bile salts and organic acids, metal ions and amine compounds (3 genes) Transport of small molecules SLC-mediated transmembrane transport Transport of bile salts and organic acids, metal ions and amine compounds 3 genes Transport of inorganic cations/anions and amino acids/oligopeptides (1 genes) Transport of small molecules SLC-mediated transmembrane transport Transport of inorganic cations/anions and amino acids/oligopeptides 1 genes	RHAG Gene Information Basic Information Ensembl ID: ENSG00000112077 Description: Rh associated glycoprotein [Source:HGNC Symbol;Acc:HGNC:10006] Location: 6:49605175-49636839 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell erythrocyte hematopoietic progenitor cell erythroid lineage cell endothelial cell Other: O2/CO2 exchange in erythrocytes SLC-mediated transmembrane transport SLC transporter disorders SLC12A2 Gene Information Basic Information Ensembl ID: ENSG00000064651 Description: solute carrier family 12 member 2 [Source:HGNC Symbol;Acc:HGNC:10911] Location: 5:128083766-128189677 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell goblet cell pericyte epithelial cell stem cell secretory cell acinar cell Other: SLC-mediated transmembrane transport SLC12A3 Gene Information Basic Information Ensembl ID: ENSG00000070915 Description: solute carrier family 12 member 3 [Source:HGNC Symbol;Acc:HGNC:10912] Location: 16:56865207-56915850 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell Other: SLC transporter disorders SLC-mediated transmembrane transport SLC13A1 Gene Information Basic Information Ensembl ID: ENSG00000081800 Description: solute carrier family 13 member 1 [Source:HGNC Symbol;Acc:HGNC:10916] Location: 7:123113531-123199972 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell Other: SLC-mediated transmembrane transport SLC14A1 Gene Information Basic Information Ensembl ID: ENSG00000141469 Description: solute carrier family 14 member 1 (Kidd blood group) [Source:HGNC Symbol;Acc:HGNC:10918] Location: 18:45687025-45752520 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell erythrocyte astrocyte Other: SLC-mediated transmembrane transport SLC14A2 Gene Information Basic Information Ensembl ID: ENSG00000132874 Description: solute carrier family 14 member 2 [Source:HGNC Symbol;Acc:HGNC:10919] Location: 18:45212995-45683688 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: SLC-mediated transmembrane transport SLC17A1 Gene Information Basic Information Ensembl ID: ENSG00000124568 Description: solute carrier family 17 member 1 [Source:HGNC Symbol;Acc:HGNC:10929] Location: 6:25782915-25832052 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell Other: SLC-mediated transmembrane transport SLC18A2 Gene Information Basic Information Ensembl ID: ENSG00000165646 Description: solute carrier family 18 member A2 [Source:HGNC Symbol;Acc:HGNC:10935] Location: 10:117241093-117279430 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell dendritic cell mast cell Other: Transmission across Chemical Synapses SLC-mediated transmembrane transport SLC1A3 Gene Information Basic Information Ensembl ID: ENSG00000079215 Description: solute carrier family 1 member 3 [Source:HGNC Symbol;Acc:HGNC:10941] Location: 5:36596588-36688334 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: bergmann glial cell epithelial cell macrophage embryonic cell phagocyte monocyte antigen presenting cell glial cell adipocyte astrocyte Other: Transmission across Chemical Synapses SLC-mediated transmembrane transport SLC transporter disorders SLC22A8 Gene Information Basic Information Ensembl ID: ENSG00000149452 Description: solute carrier family 22 member 8 [Source:HGNC Symbol;Acc:HGNC:10972] Location: 11:62989154-63015841 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell retinal pigment epithelial cell Other: SLC-mediated transmembrane transport Ciprofloxacin ADME SLC26A2 Gene Information Basic Information Ensembl ID: ENSG00000155850 Description: solute carrier family 26 member 2 [Source:HGNC Symbol;Acc:HGNC:10994] Location: 5:149960758-149993455 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell epithelial cell mast cell basophil secretory cell Other: SLC-mediated transmembrane transport Metabolism of carbohydrates and carbohydrate derivatives Diseases of glycosylation SLC26A4 Gene Information Basic Information Ensembl ID: ENSG00000091137 Description: solute carrier family 26 member 4 [Source:HGNC Symbol;Acc:HGNC:8818] Location: 7:107660828-107717809 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: kidney cell epithelial cell Other: SLC transporter disorders SLC-mediated transmembrane transport SLC26A7 Gene Information Basic Information Ensembl ID: ENSG00000147606 Description: solute carrier family 26 member 7 [Source:HGNC Symbol;Acc:HGNC:14467] Location: 8:91209494-91398155 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell retinal pigment epithelial cell glial cell Other: SLC-mediated transmembrane transport SLC34A1 Gene Information Basic Information Ensembl ID: ENSG00000131183 Description: solute carrier family 34 member 1 [Source:HGNC Symbol;Acc:HGNC:11019] Location: 5:177379235-177398848 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell Other: SLC transporter disorders SLC-mediated transmembrane transport Surfactant metabolism SLC47A1 Gene Information Basic Information Ensembl ID: ENSG00000142494 Description: solute carrier family 47 member 1 [Source:HGNC Symbol;Acc:HGNC:25588] Location: 17:19495385-19579034 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell skeletal muscle cell Other: SLC-mediated transmembrane transport SLC4A1 Gene Information Basic Information Ensembl ID: ENSG00000004939 Description: solute carrier family 4 member 1 (Diego blood group) [Source:HGNC Symbol;Acc:HGNC:11027] Location: 17:44248390-44268141 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell erythrocyte intercalated cell erythroid lineage cell developing T cell Other: O2/CO2 exchange in erythrocytes SLC-mediated transmembrane transport SLC transporter disorders SLC5A11 Gene Information Basic Information Ensembl ID: ENSG00000158865 Description: solute carrier family 5 member 11 [Source:HGNC Symbol;Acc:HGNC:23091] Location: 16:24845841-24911628 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: glial cell Other: SLC-mediated transmembrane transport SLC7A7 Gene Information Basic Information Ensembl ID: ENSG00000155465 Description: solute carrier family 7 member 7 [Source:HGNC Symbol;Acc:HGNC:11065] Location: 14:22773222-22829820 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell macrophage phagocyte enterocyte monocyte Other: Cell surface interactions at the vascular wall SLC-mediated transmembrane transport SLC transporter disorders SLC8A1 Gene Information Basic Information Ensembl ID: ENSG00000183023 Description: solute carrier family 8 member A1 [Source:HGNC Symbol;Acc:HGNC:11068] Location: 2:40097270-40611053 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Platelet homeostasis SLC-mediated transmembrane transport Cardiac conduction SLC9A3 Gene Information Basic Information Ensembl ID: ENSG00000066230 Description: solute carrier family 9 member A3 [Source:HGNC Symbol;Acc:HGNC:11073] Location: 5:470456-524449 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: SLC-mediated transmembrane transport SLCO2B1 Gene Information Basic Information Ensembl ID: ENSG00000137491 Description: solute carrier organic anion transporter family member 2B1 [Source:HGNC Symbol;Acc:HGNC:10962] Location: 11:75100563-75206549 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: macrophage phagocyte monocyte microglia mast cell myeloid cell antigen presenting cell dendritic cell Other: Metabolism of porphyrins SLC-mediated transmembrane transport Aspirin ADME
Sensory perception of taste Pathway Hierarchies & Genes Sensory perception of salty taste (1 genes) Sensory Perception Sensory perception of taste Sensory perception of salty taste 1 genes Sensory perception of sweet, bitter, and umami (glutamate) taste (1 genes) Sensory Perception Sensory perception of taste Sensory perception of sweet, bitter, and umami (glutamate) taste 1 genes	GNB1 Gene Information Basic Information Ensembl ID: ENSG00000078369 Description: G protein subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:4396] Location: 1:1785285-1892292 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: photoreceptor cell monocyte memory B cell dendritic cell Other: Olfactory Signaling Pathway Protein folding Transmission across Chemical Synapses SCNN1G Gene Information Basic Information Ensembl ID: ENSG00000166828 Description: sodium channel epithelial 1 subunit gamma [Source:HGNC Symbol;Acc:HGNC:10602] Location: 16:23182745-23216883 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell glial cell Other: Sensory perception of taste Ion channel transport
Sensory processing of sound Pathway Hierarchies & Genes Sensory processing of sound by outer hair cells of the cochlea (8 genes) Sensory Perception Sensory processing of sound Sensory processing of sound by inner hair cells of the cochlea 1 genes Sensory processing of sound by outer hair cells of the cochlea 7 genes	CIB2 Gene Information Basic Information Ensembl ID: ENSG00000136425 Description: calcium and integrin binding family member 2 [Source:HGNC Symbol;Acc:HGNC:24579] Location: 15:78104606-78131535 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell tuft cell Other: Sensory processing of sound CLIC5 Gene Information Basic Information Ensembl ID: ENSG00000112782 Description: chloride intracellular channel 5 [Source:HGNC Symbol;Acc:HGNC:13517] Location: 6:45880827-46080348 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell tuft cell pneumocyte Other: Sensory processing of sound EPS8 Gene Information Basic Information Ensembl ID: ENSG00000151491 Description: EGFR pathway substrate 8%2C signaling adaptor [Source:HGNC Symbol;Acc:HGNC:3420] Location: 12:15620134-15882329 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: smooth muscle cell enterocyte kidney cell pericyte fibroblast endothelial cell mesenchymal cell mural cell Other: Sensory processing of sound EZR Gene Information Basic Information Ensembl ID: ENSG00000092820 Description: ezrin [Source:HGNC Symbol;Acc:HGNC:12691] Location: 6:158765741-158819368 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell memory T cell Naive B cell enterocyte developing T cell dendritic cell stem cell T cell trophoblast cell CD4+ T cell Follicular B cell memory B cell glial cell lymphocyte mesothelial cell Other: Sensory processing of sound Nervous system development RDX Gene Information Basic Information Ensembl ID: ENSG00000137710 Description: radixin [Source:HGNC Symbol;Acc:HGNC:9944] Location: 11:109864295-110296712 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte adrenal cortical cell epithelial cell Other: Sensory processing of sound Nervous system development RIPOR2 Gene Information Basic Information Ensembl ID: ENSG00000111913 Description: RHO family interacting cell polarization regulator 2 [Source:HGNC Symbol;Acc:HGNC:13872] Location: 6:24804282-25042170 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell natural killer cell developing T cell Naive B cell granulocyte T cell Follicular B cell neutrophil memory B cell interneuron Other: Sensory processing of sound SNAP25 Gene Information Basic Information Ensembl ID: ENSG00000132639 Description: synaptosome associated protein 25 [Source:HGNC Symbol;Acc:HGNC:11132] Location: 20:10172395-10308258 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron endocrine cell sensory neuron motor neuron Other: Transmission across Chemical Synapses Cytokine Signaling in Immune system Integration of energy metabolism SPTBN1 Gene Information Basic Information Ensembl ID: ENSG00000115306 Description: spectrin beta%2C non-erythrocytic 1 [Source:HGNC Symbol;Acc:HGNC:11275] Location: 2:54456327-54671446 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron adipocyte glial cell stromal cell epithelial cell schwann cell Other: Membrane Trafficking Nephrin family interactions MAPK family signaling cascades
Signaling by GPCR Pathway Hierarchies & Genes Glucagon-type ligand receptors (3 genes) Signal Transduction Signaling by GPCR GPCR downstream signalling G alpha (i) signalling events Opioid Signalling G-protein activation GPCR ligand binding Class B/2 (Secretin family receptors) Glucagon-type ligand receptors 3 genes Ca-dependent events (1 genes) Signal Transduction Signaling by GPCR GPCR downstream signalling G alpha (i) signalling events Opioid Signalling G-protein mediated events PLC beta mediated events Ca-dependent events 1 genes G alpha (i) signalling events (7 genes) Signal Transduction Signaling by GPCR GPCR ligand binding Class A/1 (Rhodopsin-like receptors) Peptide ligand-binding receptors Chemokine receptors bind chemokines GPCR downstream signalling G alpha (i) signalling events 7 genes G alpha (q) signalling events (1 genes) Signal Transduction Signaling by GPCR GPCR ligand binding Class A/1 (Rhodopsin-like receptors) Peptide ligand-binding receptors Formyl peptide receptors bind formyl peptides and many other ligands GPCR downstream signalling G alpha (q) signalling events 1 genes G alpha (q) signalling events (1 genes) Signal Transduction Signaling by GPCR GPCR ligand binding Class A/1 (Rhodopsin-like receptors) Eicosanoid ligand-binding receptors Leukotriene receptors GPCR downstream signalling G alpha (q) signalling events 1 genes G alpha (q) signalling events (2 genes) Signal Transduction Signaling by GPCR GPCR ligand binding Class A/1 (Rhodopsin-like receptors) Peptide ligand-binding receptors 1 genes GPCR downstream signalling G alpha (q) signalling events 1 genes PLC beta mediated events (1 genes) Signal Transduction Signaling by GPCR GPCR downstream signalling G alpha (i) signalling events Opioid Signalling G-protein mediated events PLC beta mediated events 1 genes EGFR Transactivation by Gastrin (1 genes) Signal Transduction Signaling by GPCR GPCR downstream signalling G alpha (q) signalling events Gastrin-CREB signalling pathway via PKC and MAPK EGFR Transactivation by Gastrin 1 genes G alpha (i) signalling events (1 genes) Signal Transduction Signaling by GPCR GPCR ligand binding Class A/1 (Rhodopsin-like receptors) GPCR downstream signalling G alpha (i) signalling events 1 genes Class B/2 (Secretin family receptors) (2 genes) Signal Transduction Signaling by GPCR GPCR ligand binding Class B/2 (Secretin family receptors) 2 genes G alpha (i) signalling events (2 genes) Signal Transduction Signaling by GPCR GPCR downstream signalling G alpha (i) signalling events 2 genes G alpha (q) signalling events (2 genes) Signal Transduction Signaling by GPCR GPCR downstream signalling G alpha (q) signalling events 2 genes	ACKR1 Gene Information Basic Information Ensembl ID: ENSG00000213088 Description: atypical chemokine receptor 1 (Duffy blood group) [Source:HGNC Symbol;Acc:HGNC:4035] Location: 1:159204875-159206500 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell Other: Signaling by GPCR APP Gene Information Basic Information Ensembl ID: ENSG00000142192 Description: amyloid beta precursor protein [Source:HGNC Symbol;Acc:HGNC:620] Location: 21:25880535-26171128 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron interneuron dendritic cell epithelial cell stem cell fibroblast Other: Cytokine Signaling in Immune system Innate Immune System Membrane Trafficking CAMK2B Gene Information Basic Information Ensembl ID: ENSG00000058404 Description: calcium/calmodulin dependent protein kinase II beta [Source:HGNC Symbol;Acc:HGNC:1461] Location: 7:44210019-44334577 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: interneuron neuron Other: Transmission across Chemical Synapses Cytokine Signaling in Immune system Cellular responses to stress CCR2 Gene Information Basic Information Ensembl ID: ENSG00000121807 Description: C-C motif chemokine receptor 2 [Source:HGNC Symbol;Acc:HGNC:1603] Location: 3:46353864-46360940 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: plasma cell monocyte Other: Cytokine Signaling in Immune system Innate Immune System Signaling by GPCR CCR7 Gene Information Basic Information Ensembl ID: ENSG00000126353 Description: C-C motif chemokine receptor 7 [Source:HGNC Symbol;Acc:HGNC:1608] Location: 17:40551081-40565472 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: T cell effector T cell memory T cell developing T cell neutrophil CD8+ T cell memory B cell Other: Signaling by GPCR CD55 Gene Information Basic Information Ensembl ID: ENSG00000196352 Description: CD55 molecule (Cromer blood group) [Source:HGNC Symbol;Acc:HGNC:2665] Location: 1:207321519-207386804 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell dendritic cell trophoblast cell stromal cell Specialized T cell goblet cell kidney cell monocyte granulocyte T cell epithelial cell Naive B cell neutrophil Other: Innate Immune System Membrane Trafficking Signaling by GPCR CRHBP Gene Information Basic Information Ensembl ID: ENSG00000145708 Description: corticotropin releasing hormone binding protein [Source:HGNC Symbol;Acc:HGNC:2356] Location: 5:76953045-76981158 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell hematopoietic stem cell Other: Signaling by GPCR CX3CR1 Gene Information Basic Information Ensembl ID: ENSG00000168329 Description: C-X3-C motif chemokine receptor 1 [Source:HGNC Symbol;Acc:HGNC:2558] Location: 3:39263495-39281735 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron natural killer cell memory T cell macrophage phagocyte monocyte T cell antigen presenting cell Specialized T cell Other: Signaling by GPCR Viral Infection Pathways CXCL10 Gene Information Basic Information Ensembl ID: ENSG00000169245 Description: C-X-C motif chemokine ligand 10 [Source:HGNC Symbol;Acc:HGNC:10637] Location: 4:76021118-76023497 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: monocyte phagocyte Other: Cytokine Signaling in Immune system Signaling by GPCR CXCL12 Gene Information Basic Information Ensembl ID: ENSG00000107562 Description: C-X-C motif chemokine ligand 12 [Source:HGNC Symbol;Acc:HGNC:10672] Location: 10:44370165-44386493 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stromal cell thymic epithelial cell stem cell endothelial cell fibroblast mesodermal cell smooth muscle cell antigen presenting cell mesenchymal cell mural cell preadipocyte adipocyte medullary reticular cell Other: Signaling by GPCR Signaling by Nuclear Receptors Signaling by Receptor Tyrosine Kinases CXCL16 Gene Information Basic Information Ensembl ID: ENSG00000161921 Description: C-X-C motif chemokine ligand 16 [Source:HGNC Symbol;Acc:HGNC:16642] Location: 17:4733533-4739928 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell macrophage phagocyte monocyte myeloid cell antigen presenting cell Other: Signaling by GPCR CXCR3 Gene Information Basic Information Ensembl ID: ENSG00000186810 Description: C-X-C motif chemokine receptor 3 [Source:HGNC Symbol;Acc:HGNC:4540] Location: X:71615916-71618511 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell natural killer cell CD8+ T cell developing T cell dendritic cell T cell Regulatory T cell Specialized T cell antigen presenting cell CD4+ T cell T helper cell Other: Signaling by GPCR EDNRB Gene Information Basic Information Ensembl ID: ENSG00000136160 Description: endothelin receptor type B [Source:HGNC Symbol;Acc:HGNC:3180] Location: 13:77895481-77975529 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron pericyte stem cell endothelial cell glial cell stromal cell smooth muscle cell oligodendrocyte precursor cell schwann cell epithelial cell astrocyte melanocyte pneumocyte Other: Signaling by GPCR MITF-M-regulated melanocyte development EGFR Gene Information Basic Information Ensembl ID: ENSG00000146648 Description: epidermal growth factor receptor [Source:HGNC Symbol;Acc:HGNC:3236] Location: 7:55019017-55211628 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell endothelial cell trophoblast cell hepatocyte stem cell adipocyte fibroblast muscle cell stromal cell mesenchymal stem cell skeletal muscle cell cancer cell Other: Signaling by NOTCH Membrane Trafficking Signaling by GPCR GNAT1 Gene Information Basic Information Ensembl ID: ENSG00000114349 Description: G protein subunit alpha transducin 1 [Source:HGNC Symbol;Acc:HGNC:4393] Location: 3:50191610-50197696 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: photoreceptor cell Other: Visual phototransduction Signaling by GPCR GNAT2 Gene Information Basic Information Ensembl ID: ENSG00000134183 Description: G protein subunit alpha transducin 2 [Source:HGNC Symbol;Acc:HGNC:4394] Location: 1:109603091-109619929 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Signaling by WNT Signaling by GPCR GNB1 Gene Information Basic Information Ensembl ID: ENSG00000078369 Description: G protein subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:4396] Location: 1:1785285-1892292 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: photoreceptor cell monocyte memory B cell dendritic cell Other: Olfactory Signaling Pathway Protein folding Transmission across Chemical Synapses GNG11 Gene Information Basic Information Ensembl ID: ENSG00000127920 Description: G protein subunit gamma 11 [Source:HGNC Symbol;Acc:HGNC:4403] Location: 7:93921735-93928610 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell hematopoietic stem cell smooth muscle cell T cell megakaryocyte Other: Protein folding Transmission across Chemical Synapses Potassium Channels GNGT2 Gene Information Basic Information Ensembl ID: ENSG00000167083 Description: G protein subunit gamma transducin 2 [Source:HGNC Symbol;Acc:HGNC:4412] Location: 17:49202791-49210574 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Transmission across Chemical Synapses Potassium Channels Integration of energy metabolism GPR17 Gene Information Basic Information Ensembl ID: ENSG00000144230 Description: G protein-coupled receptor 17 [Source:HGNC Symbol;Acc:HGNC:4471] Location: 2:127645864-127652639 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: glial cell Other: Signaling by GPCR GPR183 Gene Information Basic Information Ensembl ID: ENSG00000169508 Description: G protein-coupled receptor 183 [Source:HGNC Symbol;Acc:HGNC:3128] Location: 13:99294539-99307399 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: natural killer cell dendritic cell Regulatory T cell Naive B cell phagocyte CD4+ T cell leukocyte Follicular B cell antigen presenting cell plasma cell macrophage Other: Signaling by GPCR PLCB1 Gene Information Basic Information Ensembl ID: ENSG00000182621 Description: phospholipase C beta 1 [Source:HGNC Symbol;Acc:HGNC:15917] Location: 20:8077251-8968360 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron goblet cell epithelial cell fibroblast smooth muscle cell T cell glial cell Other: Transmission across Chemical Synapses Inositol phosphate metabolism Integration of energy metabolism RGS16 Gene Information Basic Information Ensembl ID: ENSG00000143333 Description: regulator of G protein signaling 16 [Source:HGNC Symbol;Acc:HGNC:9997] Location: 1:182598623-182604389 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell Naive B cell pericyte smooth muscle cell fibroblast muscle cell inhibitory neuron mural cell Other: Signaling by GPCR RGS5 Gene Information Basic Information Ensembl ID: ENSG00000143248 Description: regulator of G protein signaling 5 [Source:HGNC Symbol;Acc:HGNC:10001] Location: 1:163111121-163321791 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron pericyte fibroblast stromal cell smooth muscle cell mural cell vascular cell Other: Signaling by GPCR
Signaling by Hedgehog Pathway Hierarchies & Genes GLI proteins bind promoters of Hh responsive genes to promote transcription (1 genes) Signal Transduction Signaling by Hedgehog Hedgehog 'off' state GLI3 is processed to GLI3R by the proteasome Hedgehog 'on' state GLI proteins bind promoters of Hh responsive genes to promote transcription 1 genes	GLI3 Gene Information Basic Information Ensembl ID: ENSG00000106571 Description: GLI family zinc finger 3 [Source:HGNC Symbol;Acc:HGNC:4319] Location: 7:41960949-42264100 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron pericyte glial cell stromal cell smooth muscle cell epithelial cell astrocyte endothelial cell Other: Signaling by Hedgehog RNA Polymerase II Transcription
Signaling by Hippo Pathway Hierarchies & Genes Signaling by Hippo (1 genes) Signal Transduction Signaling by Hippo 1 genes	WWTR1 Gene Information Basic Information Ensembl ID: ENSG00000018408 Description: WW domain containing transcription regulator 1 [Source:HGNC Symbol;Acc:HGNC:24042] Location: 3:149517235-149736714 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell Other: Signaling by Hippo Cardiac conduction RNA Polymerase II Transcription
Signaling by Leptin Pathway Hierarchies & Genes Signaling by Leptin (1 genes) Signal Transduction Signaling by Leptin 1 genes	LEP Gene Information Basic Information Ensembl ID: ENSG00000174697 Description: leptin [Source:HGNC Symbol;Acc:HGNC:6553] Location: 7:128241278-128257629 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: adipocyte Other: Signaling by Leptin Peptide hormone metabolism Adipogenesis
Signaling by NOTCH Pathway Hierarchies & Genes NOTCH4 Activation and Transmission of Signal to the Nucleus (2 genes) Signal Transduction Signaling by NOTCH Signaling by NOTCH1 Activated NOTCH1 Transmits Signal to the Nucleus Signaling by NOTCH2 NOTCH2 Activation and Transmission of Signal to the Nucleus Signaling by NOTCH3 NOTCH3 Activation and Transmission of Signal to the Nucleus 1 genes Signaling by NOTCH4 NOTCH4 Activation and Transmission of Signal to the Nucleus 1 genes NOTCH4 Intracellular Domain Regulates Transcription (2 genes) Signal Transduction Signaling by NOTCH Signaling by NOTCH1 NOTCH1 Intracellular Domain Regulates Transcription 1 genes Signaling by NOTCH3 NOTCH3 Intracellular Domain Regulates Transcription Signaling by NOTCH4 NOTCH4 Intracellular Domain Regulates Transcription 1 genes NOTCH3 Activation and Transmission of Signal to the Nucleus (2 genes) Signal Transduction Signaling by NOTCH Signaling by NOTCH3 NOTCH3 Activation and Transmission of Signal to the Nucleus 2 genes NOTCH3 Intracellular Domain Regulates Transcription (1 genes) Signal Transduction Signaling by NOTCH Signaling by NOTCH3 NOTCH3 Intracellular Domain Regulates Transcription 1 genes Pre-NOTCH Transcription and Translation (1 genes) Signal Transduction Signaling by NOTCH Pre-NOTCH Expression and Processing Pre-NOTCH Transcription and Translation 1 genes	EGF Gene Information Basic Information Ensembl ID: ENSG00000138798 Description: epidermal growth factor [Source:HGNC Symbol;Acc:HGNC:3229] Location: 4:109912883-110013766 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: skeletal muscle cell epithelial cell glial cell Other: Signaling by NOTCH Membrane Trafficking Cellular responses to stress EGFR Gene Information Basic Information Ensembl ID: ENSG00000146648 Description: epidermal growth factor receptor [Source:HGNC Symbol;Acc:HGNC:3236] Location: 7:55019017-55211628 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell endothelial cell trophoblast cell hepatocyte stem cell adipocyte fibroblast muscle cell stromal cell mesenchymal stem cell skeletal muscle cell cancer cell Other: Signaling by NOTCH Membrane Trafficking Signaling by GPCR ELF3 Gene Information Basic Information Ensembl ID: ENSG00000163435 Description: E74 like ETS transcription factor 3 [Source:HGNC Symbol;Acc:HGNC:3318] Location: 1:202007945-202017183 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell pneumocyte stem cell tuft cell goblet cell enterocyte fibroblast secretory cell ionocyte Other: Signaling by NOTCH HEY2 Gene Information Basic Information Ensembl ID: ENSG00000135547 Description: hes related family bHLH transcription factor with YRPW motif 2 [Source:HGNC Symbol;Acc:HGNC:4881] Location: 6:125747664-125761269 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: smooth muscle cell cardiomyocyte endothelial cell Other: Signaling by NOTCH RNA Polymerase II Transcription Cardiogenesis JAG1 Gene Information Basic Information Ensembl ID: ENSG00000101384 Description: jagged canonical Notch ligand 1 [Source:HGNC Symbol;Acc:HGNC:6188] Location: 20:10637684-10673999 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte smooth muscle cell mural cell Other: Signaling by NOTCH RNA Polymerase II Transcription Signaling by Rho GTPases, Miro GTPases and RHOBTB3 MYC Gene Information Basic Information Ensembl ID: ENSG00000136997 Description: MYC proto-oncogene%2C bHLH transcription factor [Source:HGNC Symbol;Acc:HGNC:7553] Location: 8:127735434-127742951 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pericyte epithelial cell fibroblast stromal cell smooth muscle cell hematopoietic progenitor cell endothelial cell stem cell erythroblast muscle cell progenitor cell transient amplifying cell cancer stem cell B cell erythroid lineage cell Other: Cytokine Signaling in Immune system Signaling by NOTCH Signaling by WNT NEURL1 Gene Information Basic Information Ensembl ID: ENSG00000107954 Description: neuralized E3 ubiquitin protein ligase 1 [Source:HGNC Symbol;Acc:HGNC:7761] Location: 10:103493705-103592546 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell Other: Signaling by NOTCH Signaling by NOTCH1 in Cancer STAT1 Gene Information Basic Information Ensembl ID: ENSG00000115415 Description: signal transducer and activator of transcription 1 [Source:HGNC Symbol;Acc:HGNC:11362] Location: 2:190908460-191020960 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell Regulatory T cell CD8+ T cell leukocyte secretory cell monocyte epithelial cell Other: Cytokine Signaling in Immune system Signaling by NOTCH RNA Polymerase II Transcription
Signaling by Non-Receptor Tyrosine Kinases Pathway Hierarchies & Genes PTK6 Expression (1 genes) Signal Transduction Signaling by Non-Receptor Tyrosine Kinases Signaling by PTK6 PTK6 Expression 1 genes PTK6 promotes HIF1A stabilization (1 genes) Signal Transduction Signaling by Non-Receptor Tyrosine Kinases Signaling by PTK6 PTK6 promotes HIF1A stabilization 1 genes Signaling by PTK6 (1 genes) Signal Transduction Signaling by Non-Receptor Tyrosine Kinases Signaling by PTK6 1 genes	EGF Gene Information Basic Information Ensembl ID: ENSG00000138798 Description: epidermal growth factor [Source:HGNC Symbol;Acc:HGNC:3229] Location: 4:109912883-110013766 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: skeletal muscle cell epithelial cell glial cell Other: Signaling by NOTCH Membrane Trafficking Cellular responses to stress EGFR Gene Information Basic Information Ensembl ID: ENSG00000146648 Description: epidermal growth factor receptor [Source:HGNC Symbol;Acc:HGNC:3236] Location: 7:55019017-55211628 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell endothelial cell trophoblast cell hepatocyte stem cell adipocyte fibroblast muscle cell stromal cell mesenchymal stem cell skeletal muscle cell cancer cell Other: Signaling by NOTCH Membrane Trafficking Signaling by GPCR EPAS1 Gene Information Basic Information Ensembl ID: ENSG00000116016 Description: endothelial PAS domain protein 1 [Source:HGNC Symbol;Acc:HGNC:3374] Location: 2:46293667-46386697 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte trophoblast cell smooth muscle cell innate lymphoid cell Other: Macroautophagy Cellular responses to stress Transcriptional regulation of pluripotent stem cells
Signaling by Nuclear Receptors Pathway Hierarchies & Genes Estrogen-dependent nuclear events downstream of ESR-membrane signaling (3 genes) Signal Transduction Signaling by Nuclear Receptors ESR-mediated signaling Extra-nuclear estrogen signaling Estrogen-dependent nuclear events downstream of ESR-membrane signaling 3 genes Estrogen-dependent gene expression (5 genes) Signal Transduction Signaling by Nuclear Receptors ESR-mediated signaling Estrogen-dependent gene expression 5 genes Extra-nuclear estrogen signaling (5 genes) Signal Transduction Signaling by Nuclear Receptors ESR-mediated signaling Extra-nuclear estrogen signaling 5 genes NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux (2 genes) Signal Transduction Signaling by Nuclear Receptors NR1H2 and NR1H3-mediated signaling NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux 2 genes RA biosynthesis pathway (1 genes) Signal Transduction Signaling by Nuclear Receptors Signaling by Retinoic Acid RA biosynthesis pathway 1 genes	ALDH1A3 Gene Information Basic Information Ensembl ID: ENSG00000184254 Description: aldehyde dehydrogenase 1 family member A3 [Source:HGNC Symbol;Acc:HGNC:409] Location: 15:100861924-100916626 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stromal cell epithelial cell stem cell fibroblast Other: Signaling by Nuclear Receptors Developmental Cell Lineages ARL4C Gene Information Basic Information Ensembl ID: ENSG00000188042 Description: ADP ribosylation factor like GTPase 4C [Source:HGNC Symbol;Acc:HGNC:698] Location: 2:234493041-234497081 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell natural killer cell endocrine cell CD8+ T cell dendritic cell developing T cell leukocyte T cell antigen presenting cell Specialized T cell monocyte macrophage Other: Signaling by Nuclear Receptors CXCL12 Gene Information Basic Information Ensembl ID: ENSG00000107562 Description: C-X-C motif chemokine ligand 12 [Source:HGNC Symbol;Acc:HGNC:10672] Location: 10:44370165-44386493 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stromal cell thymic epithelial cell stem cell endothelial cell fibroblast mesodermal cell smooth muscle cell antigen presenting cell mesenchymal cell mural cell preadipocyte adipocyte medullary reticular cell Other: Signaling by GPCR Signaling by Nuclear Receptors Signaling by Receptor Tyrosine Kinases EGF Gene Information Basic Information Ensembl ID: ENSG00000138798 Description: epidermal growth factor [Source:HGNC Symbol;Acc:HGNC:3229] Location: 4:109912883-110013766 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: skeletal muscle cell epithelial cell glial cell Other: Signaling by NOTCH Membrane Trafficking Cellular responses to stress EGFR Gene Information Basic Information Ensembl ID: ENSG00000146648 Description: epidermal growth factor receptor [Source:HGNC Symbol;Acc:HGNC:3236] Location: 7:55019017-55211628 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell endothelial cell trophoblast cell hepatocyte stem cell adipocyte fibroblast muscle cell stromal cell mesenchymal stem cell skeletal muscle cell cancer cell Other: Signaling by NOTCH Membrane Trafficking Signaling by GPCR ESR1 Gene Information Basic Information Ensembl ID: ENSG00000091831 Description: estrogen receptor 1 [Source:HGNC Symbol;Acc:HGNC:3467] Location: 6:151656691-152129619 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: fibroblast stromal cell plasma cell Other: Cellular responses to stress Post-translational protein modification RNA Polymerase II Transcription GATA3 Gene Information Basic Information Ensembl ID: ENSG00000107485 Description: GATA binding protein 3 [Source:HGNC Symbol;Acc:HGNC:4172] Location: 10:8045378-8075198 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell epithelial cell trophoblast cell developing T cell Regulatory T cell phagocyte natural killer cell CD4+ T cell lymphocyte innate lymphoid cell T helper cell neuron Other: Cytokine Signaling in Immune system Post-translational protein modification RNA Polymerase II Transcription GNB1 Gene Information Basic Information Ensembl ID: ENSG00000078369 Description: G protein subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:4396] Location: 1:1785285-1892292 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: photoreceptor cell monocyte memory B cell dendritic cell Other: Olfactory Signaling Pathway Protein folding Transmission across Chemical Synapses GNG11 Gene Information Basic Information Ensembl ID: ENSG00000127920 Description: G protein subunit gamma 11 [Source:HGNC Symbol;Acc:HGNC:4403] Location: 7:93921735-93928610 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell hematopoietic stem cell smooth muscle cell T cell megakaryocyte Other: Protein folding Transmission across Chemical Synapses Potassium Channels GNGT2 Gene Information Basic Information Ensembl ID: ENSG00000167083 Description: G protein subunit gamma transducin 2 [Source:HGNC Symbol;Acc:HGNC:4412] Location: 17:49202791-49210574 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Transmission across Chemical Synapses Potassium Channels Integration of energy metabolism GPAM Gene Information Basic Information Ensembl ID: ENSG00000119927 Description: glycerol-3-phosphate acyltransferase%2C mitochondrial [Source:HGNC Symbol;Acc:HGNC:24865] Location: 10:112149865-112215377 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: adipocyte Other: Epigenetic regulation of gene expression Metabolism of lipids RNA Polymerase II Transcription MMP2 Gene Information Basic Information Ensembl ID: ENSG00000087245 Description: matrix metallopeptidase 2 [Source:HGNC Symbol;Acc:HGNC:7166] Location: 16:55389700-55506691 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: mesenchymal cell smooth muscle cell Other: Cytokine Signaling in Immune system Degradation of the extracellular matrix Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) MYC Gene Information Basic Information Ensembl ID: ENSG00000136997 Description: MYC proto-oncogene%2C bHLH transcription factor [Source:HGNC Symbol;Acc:HGNC:7553] Location: 8:127735434-127742951 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pericyte epithelial cell fibroblast stromal cell smooth muscle cell hematopoietic progenitor cell endothelial cell stem cell erythroblast muscle cell progenitor cell transient amplifying cell cancer stem cell B cell erythroid lineage cell Other: Cytokine Signaling in Immune system Signaling by NOTCH Signaling by WNT PGR Gene Information Basic Information Ensembl ID: ENSG00000082175 Description: progesterone receptor [Source:HGNC Symbol;Acc:HGNC:8910] Location: 11:101029624-101129813 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cellular responses to stress Post-translational protein modification RNA Polymerase II Transcription PLTP Gene Information Basic Information Ensembl ID: ENSG00000100979 Description: phospholipid transfer protein [Source:HGNC Symbol;Acc:HGNC:9093] Location: 20:45898621-45912155 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell stromal cell epithelial cell fibroblast endocrine cell macrophage thymic epithelial cell phagocyte monocyte myeloid cell antigen presenting cell Other: Plasma lipoprotein assembly, remodeling, and clearance Signaling by Nuclear Receptors TGFA Gene Information Basic Information Ensembl ID: ENSG00000163235 Description: transforming growth factor alpha [Source:HGNC Symbol;Acc:HGNC:11765] Location: 2:70447284-70554193 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Membrane Trafficking MAPK family signaling cascades Post-translational protein modification
Signaling by Receptor Tyrosine Kinases Pathway Hierarchies & Genes IRS-related events triggered by IGF1R (2 genes) Signal Transduction Signaling by Receptor Tyrosine Kinases Signaling by Insulin receptor Insulin receptor signalling cascade IRS-mediated signalling PI3K Cascade Signaling by FGFR Signaling by FGFR3 FGFR3 ligand binding and activation 1 genes FGFR3b ligand binding and activation Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) IGF1R signaling cascade IRS-related events triggered by IGF1R 1 genes Frs2-mediated activation (1 genes) Signal Transduction Signaling by Receptor Tyrosine Kinases Signaling by NTRKs Signaling by NTRK1 (TRKA) Signalling to ERKs Prolonged ERK activation events Frs2-mediated activation 1 genes GRB2 events in EGFR signaling (2 genes) Signal Transduction Signaling by Receptor Tyrosine Kinases Signaling by ERBB2 SHC1 events in ERBB2 signaling Signaling by ERBB4 Signaling by EGFR GRB2 events in EGFR signaling 2 genes FGFR1b ligand binding and activation (1 genes) Signal Transduction Signaling by Receptor Tyrosine Kinases Signaling by FGFR Signaling by FGFR1 FGFR1 ligand binding and activation FGFR1b ligand binding and activation 1 genes MET activates PTK2 signaling (6 genes) Signal Transduction Signaling by Receptor Tyrosine Kinases Signaling by PDGF 3 genes Signaling by MET MET promotes cell motility MET activates PTK2 signaling 3 genes NGF-stimulated transcription (2 genes) Signal Transduction Signaling by Receptor Tyrosine Kinases Signaling by NTRKs Signaling by NTRK1 (TRKA) Nuclear Events (kinase and transcription factor activation) NGF-stimulated transcription 2 genes Downstream signal transduction (1 genes) Signal Transduction Signaling by Receptor Tyrosine Kinases Signaling by SCF-KIT Signaling by PDGF Downstream signal transduction 1 genes IRS-related events triggered by IGF1R (1 genes) Signal Transduction Signaling by Receptor Tyrosine Kinases Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) IGF1R signaling cascade IRS-related events triggered by IGF1R 1 genes MET activates PTK2 signaling (3 genes) Signal Transduction Signaling by Receptor Tyrosine Kinases Signaling by MET MET promotes cell motility MET activates PTK2 signaling 3 genes VEGF binds to VEGFR leading to receptor dimerization (1 genes) Signal Transduction Signaling by Receptor Tyrosine Kinases Signaling by VEGF VEGF ligand-receptor interactions VEGF binds to VEGFR leading to receptor dimerization 1 genes VEGFR2 mediated vascular permeability (2 genes) Signal Transduction Signaling by Receptor Tyrosine Kinases Signaling by VEGF VEGFA-VEGFR2 Pathway VEGFR2 mediated vascular permeability 2 genes Downregulation of ERBB2 signaling (1 genes) Signal Transduction Signaling by Receptor Tyrosine Kinases Signaling by ERBB2 Downregulation of ERBB2 signaling 1 genes Downstream signal transduction (2 genes) Signal Transduction Signaling by Receptor Tyrosine Kinases Signaling by PDGF Downstream signal transduction 2 genes GRB2 events in EGFR signaling (1 genes) Signal Transduction Signaling by Receptor Tyrosine Kinases Signaling by EGFR GRB2 events in EGFR signaling 1 genes Insulin receptor recycling (1 genes) Signal Transduction Signaling by Receptor Tyrosine Kinases Signaling by Insulin receptor Insulin receptor recycling 1 genes MDK and PTN in ALK signaling (1 genes) Signal Transduction Signaling by Receptor Tyrosine Kinases Signaling by ALK MDK and PTN in ALK signaling 1 genes Nuclear signaling by ERBB4 (3 genes) Signal Transduction Signaling by Receptor Tyrosine Kinases Signaling by ERBB4 Nuclear signaling by ERBB4 3 genes Regulation of KIT signaling (2 genes) Signal Transduction Signaling by Receptor Tyrosine Kinases Signaling by SCF-KIT Regulation of KIT signaling 2 genes STAT3 nuclear events downstream of ALK signaling (1 genes) Signal Transduction Signaling by Receptor Tyrosine Kinases Signaling by ALK STAT3 nuclear events downstream of ALK signaling 1 genes VEGFA-VEGFR2 Pathway (2 genes) Signal Transduction Signaling by Receptor Tyrosine Kinases Signaling by VEGF VEGFA-VEGFR2 Pathway 2 genes Signaling by ALK (1 genes) Signal Transduction Signaling by Receptor Tyrosine Kinases Signaling by ALK 1 genes Signaling by ERBB4 (1 genes) Signal Transduction Signaling by Receptor Tyrosine Kinases Signaling by ERBB4 1 genes	ASCL1 Gene Information Basic Information Ensembl ID: ENSG00000139352 Description: achaete-scute family bHLH transcription factor 1 [Source:HGNC Symbol;Acc:HGNC:738] Location: 12:102957674-102960513 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron endocrine cell neuroendocrine cell epithelial cell progenitor cell Other: Signaling by Receptor Tyrosine Kinases ATP6V0D2 Gene Information Basic Information Ensembl ID: ENSG00000147614 Description: ATPase H+ transporting V0 subunit d2 [Source:HGNC Symbol;Acc:HGNC:18266] Location: 8:85987323-86154225 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: kidney cell osteoclast Other: Innate Immune System Cellular responses to stress Signaling by Receptor Tyrosine Kinases AXL Gene Information Basic Information Ensembl ID: ENSG00000167601 Description: AXL receptor tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:905] Location: 19:41219223-41261766 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell pericyte dendritic cell stromal cell phagocyte fibroblast smooth muscle cell monocyte antigen presenting cell macrophage mesenchymal cell Other: Signaling by Receptor Tyrosine Kinases CDH5 Gene Information Basic Information Ensembl ID: ENSG00000179776 Description: cadherin 5 [Source:HGNC Symbol;Acc:HGNC:1764] Location: 16:66366690-66404784 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron cardiomyocyte Other: Cell junction organization Signaling by Receptor Tyrosine Kinases Cellular responses to mechanical stimuli COL4A1 Gene Information Basic Information Ensembl ID: ENSG00000187498 Description: collagen type IV alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2202] Location: 13:110148963-110307202 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte stem cell fibroblast stromal cell smooth muscle cell adipocyte melanocyte basal cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL4A2 Gene Information Basic Information Ensembl ID: ENSG00000134871 Description: collagen type IV alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2203] Location: 13:110305812-110513209 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte epithelial cell stem cell adipocyte fibroblast glial cell stromal cell smooth muscle cell melanocyte Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL5A1 Gene Information Basic Information Ensembl ID: ENSG00000130635 Description: collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209] Location: 9:134641803-134844843 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron pericyte stromal cell stellate cell fibroblast stem cell embryonic cell mesenchymal cell skeletal muscle cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL5A2 Gene Information Basic Information Ensembl ID: ENSG00000204262 Description: collagen type V alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2210] Location: 2:189031898-189225312 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron pericyte stromal cell stellate cell fibroblast stem cell endothelial cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL5A3 Gene Information Basic Information Ensembl ID: ENSG00000080573 Description: collagen type V alpha 3 chain [Source:HGNC Symbol;Acc:HGNC:14864] Location: 19:9959561-10010504 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pericyte astrocyte mesenchymal cell mural cell glial cell Other: Degradation of the extracellular matrix Collagen formation Fibronectin matrix formation COL6A2 Gene Information Basic Information Ensembl ID: ENSG00000142173 Description: collagen type VI alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2212] Location: 21:46098112-46132848 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stromal cell fibroblast stellate cell endocrine cell pericyte stem cell endothelial cell smooth muscle cell Other: Degradation of the extracellular matrix Collagen formation Integrin cell surface interactions CTNNB1 Gene Information Basic Information Ensembl ID: ENSG00000168036 Description: catenin beta 1 [Source:HGNC Symbol;Acc:HGNC:2514] Location: 3:41194741-41260096 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell endothelial cell epithelial cell stem cell phagocyte adrenal cortical cell fibroblast monocyte Specialized T cell melanocyte M cell Other: Apoptosis Innate Immune System Signaling by WNT CXCL12 Gene Information Basic Information Ensembl ID: ENSG00000107562 Description: C-X-C motif chemokine ligand 12 [Source:HGNC Symbol;Acc:HGNC:10672] Location: 10:44370165-44386493 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stromal cell thymic epithelial cell stem cell endothelial cell fibroblast mesodermal cell smooth muscle cell antigen presenting cell mesenchymal cell mural cell preadipocyte adipocyte medullary reticular cell Other: Signaling by GPCR Signaling by Nuclear Receptors Signaling by Receptor Tyrosine Kinases EGF Gene Information Basic Information Ensembl ID: ENSG00000138798 Description: epidermal growth factor [Source:HGNC Symbol;Acc:HGNC:3229] Location: 4:109912883-110013766 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: skeletal muscle cell epithelial cell glial cell Other: Signaling by NOTCH Membrane Trafficking Cellular responses to stress EGFR Gene Information Basic Information Ensembl ID: ENSG00000146648 Description: epidermal growth factor receptor [Source:HGNC Symbol;Acc:HGNC:3236] Location: 7:55019017-55211628 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell endothelial cell trophoblast cell hepatocyte stem cell adipocyte fibroblast muscle cell stromal cell mesenchymal stem cell skeletal muscle cell cancer cell Other: Signaling by NOTCH Membrane Trafficking Signaling by GPCR ESR1 Gene Information Basic Information Ensembl ID: ENSG00000091831 Description: estrogen receptor 1 [Source:HGNC Symbol;Acc:HGNC:3467] Location: 6:151656691-152129619 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: fibroblast stromal cell plasma cell Other: Cellular responses to stress Post-translational protein modification RNA Polymerase II Transcription FGFR3 Gene Information Basic Information Ensembl ID: ENSG00000068078 Description: fibroblast growth factor receptor 3 [Source:HGNC Symbol;Acc:HGNC:3690] Location: 4:1793293-1808872 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stem cell astrocyte epithelial cell Other: MAPK family signaling cascades Intracellular signaling by second messengers Signaling by Receptor Tyrosine Kinases FLT1 Gene Information Basic Information Ensembl ID: ENSG00000102755 Description: fms related receptor tyrosine kinase 1 [Source:HGNC Symbol;Acc:HGNC:3763] Location: 13:28300346-28495145 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell trophoblast cell vascular cell Other: Signaling by Receptor Tyrosine Kinases FLT3 Gene Information Basic Information Ensembl ID: ENSG00000122025 Description: fms related receptor tyrosine kinase 3 [Source:HGNC Symbol;Acc:HGNC:3765] Location: 13:28003274-28100592 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell Other: MAPK family signaling cascades Cytokine Signaling in Immune system Intracellular signaling by second messengers GABRQ Gene Information Basic Information Ensembl ID: ENSG00000268089 Description: gamma-aminobutyric acid type A receptor subunit theta [Source:HGNC Symbol;Acc:HGNC:14454] Location: X:152637895-152657542 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: projection neuron Other: Transmission across Chemical Synapses Signaling by Receptor Tyrosine Kinases HGF Gene Information Basic Information Ensembl ID: ENSG00000019991 Description: hepatocyte growth factor [Source:HGNC Symbol;Acc:HGNC:4893] Location: 7:81699010-81770438 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stellate cell fibroblast stromal cell bone cell Other: Cytokine Signaling in Immune system MAPK family signaling cascades Platelet activation, signaling and aggregation IGF1 Gene Information Basic Information Ensembl ID: ENSG00000017427 Description: insulin like growth factor 1 [Source:HGNC Symbol;Acc:HGNC:5464] Location: 12:102395874-102481744 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron fibroblast endocrine cell stem cell stromal cell epithelial cell adipocyte macrophage Other: Peptide hormone metabolism Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Platelet activation, signaling and aggregation ITGB3 Gene Information Basic Information Ensembl ID: ENSG00000259207 Description: integrin subunit beta 3 [Source:HGNC Symbol;Acc:HGNC:6156] Location: 17:47253827-47313743 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: platelet epithelial cell monocyte Other: ECM proteoglycans Elastic fibre formation Cell surface interactions at the vascular wall KIT Gene Information Basic Information Ensembl ID: ENSG00000157404 Description: KIT proto-oncogene%2C receptor tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:6342] Location: 4:54657267-54740783 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell intercalated cell tuft cell brush cell mast cell progenitor cell stem cell melanocyte Specialized T cell hematopoietic progenitor cell hematopoietic cell cancer stem cell stromal cell interstitial cell Other: MAPK family signaling cascades RNA Polymerase II Transcription Intracellular signaling by second messengers LAMA2 Gene Information Basic Information Ensembl ID: ENSG00000196569 Description: laminin subunit alpha 2 [Source:HGNC Symbol;Acc:HGNC:6482] Location: 6:128883138-129516566 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: bergmann glial cell endothelial cell fibroblast cardiomyocyte pericyte skeletal muscle cell stem cell stromal cell glial cell Other: Laminin interactions Non-integrin membrane-ECM interactions ECM proteoglycans LCK Gene Information Basic Information Ensembl ID: ENSG00000182866 Description: LCK proto-oncogene%2C Src family tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:6524] Location: 1:32251244-32286165 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell natural killer cell CD8+ T cell developing T cell T cell lymphocyte Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System MATK Gene Information Basic Information Ensembl ID: ENSG00000007264 Description: megakaryocyte-associated tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:6906] Location: 19:3777970-3802129 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron natural killer cell tuft cell T cell Specialized T cell Other: Signaling by Receptor Tyrosine Kinases MET Gene Information Basic Information Ensembl ID: ENSG00000105976 Description: MET proto-oncogene%2C receptor tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:7029] Location: 7:116672196-116798377 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell pancreatic cell melanocyte Other: MAPK family signaling cascades RNA Polymerase II Transcription Intracellular signaling by second messengers MYC Gene Information Basic Information Ensembl ID: ENSG00000136997 Description: MYC proto-oncogene%2C bHLH transcription factor [Source:HGNC Symbol;Acc:HGNC:7553] Location: 8:127735434-127742951 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pericyte epithelial cell fibroblast stromal cell smooth muscle cell hematopoietic progenitor cell endothelial cell stem cell erythroblast muscle cell progenitor cell transient amplifying cell cancer stem cell B cell erythroid lineage cell Other: Cytokine Signaling in Immune system Signaling by NOTCH Signaling by WNT NTRK1 Gene Information Basic Information Ensembl ID: ENSG00000198400 Description: neurotrophic receptor tyrosine kinase 1 [Source:HGNC Symbol;Acc:HGNC:8031] Location: 1:156815636-156881850 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Signaling by Receptor Tyrosine Kinases PDGFRA Gene Information Basic Information Ensembl ID: ENSG00000134853 Description: platelet derived growth factor receptor alpha [Source:HGNC Symbol;Acc:HGNC:8803] Location: 4:54229280-54298245 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: fibroblast pericyte stellate cell stem cell embryonic cell stromal cell smooth muscle cell oligodendrocyte precursor cell epithelial cell oligodendrocyte progenitor cell mesodermal cell valve interstitial cell Other: MAPK family signaling cascades Intracellular signaling by second messengers Signaling by Receptor Tyrosine Kinases PDGFRB Gene Information Basic Information Ensembl ID: ENSG00000113721 Description: platelet derived growth factor receptor beta [Source:HGNC Symbol;Acc:HGNC:8804] Location: 5:150113839-150155872 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: smooth muscle cell stellate cell endothelial cell pericyte fibroblast stromal cell mural cell adipocyte neuron mesenchymal cell vascular cell Other: MAPK family signaling cascades Intracellular signaling by second messengers Signaling by Receptor Tyrosine Kinases PGR Gene Information Basic Information Ensembl ID: ENSG00000082175 Description: progesterone receptor [Source:HGNC Symbol;Acc:HGNC:8910] Location: 11:101029624-101129813 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Cellular responses to stress Post-translational protein modification RNA Polymerase II Transcription PRDM1 Gene Information Basic Information Ensembl ID: ENSG00000057657 Description: PR/SET domain 1 [Source:HGNC Symbol;Acc:HGNC:9346] Location: 6:105993463-106109939 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell developing T cell Regulatory T cell embryonic cell plasma cell Specialized T cell CD4+ T cell CD8+ T cell T cell plasmablast Other: RNA Polymerase II Transcription Signaling by Receptor Tyrosine Kinases Specification of primordial germ cells PTN Gene Information Basic Information Ensembl ID: ENSG00000105894 Description: pleiotrophin [Source:HGNC Symbol;Acc:HGNC:9630] Location: 7:137227341-137343774 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: bergmann glial cell epithelial cell endothelial cell neuron fibroblast pericyte stromal cell stem cell smooth muscle cell oligodendrocyte precursor cell retina cell trophoblast cell chondrocyte Other: Signaling by Receptor Tyrosine Kinases STAT1 Gene Information Basic Information Ensembl ID: ENSG00000115415 Description: signal transducer and activator of transcription 1 [Source:HGNC Symbol;Acc:HGNC:11362] Location: 2:190908460-191020960 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell Regulatory T cell CD8+ T cell leukocyte secretory cell monocyte epithelial cell Other: Cytokine Signaling in Immune system Signaling by NOTCH RNA Polymerase II Transcription TGFA Gene Information Basic Information Ensembl ID: ENSG00000163235 Description: transforming growth factor alpha [Source:HGNC Symbol;Acc:HGNC:11765] Location: 2:70447284-70554193 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Membrane Trafficking MAPK family signaling cascades Post-translational protein modification TGFBR3 Gene Information Basic Information Ensembl ID: ENSG00000069702 Description: transforming growth factor beta receptor 3 [Source:HGNC Symbol;Acc:HGNC:11774] Location: 1:91680343-91906335 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell natural killer cell epithelial cell stem cell fibroblast adipocyte stromal cell skeletal muscle cell Other: Signaling by Receptor Tyrosine Kinases Signaling by TGFB family members VGF Gene Information Basic Information Ensembl ID: ENSG00000128564 Description: VGF nerve growth factor inducible [Source:HGNC Symbol;Acc:HGNC:12684] Location: 7:101162509-101165569 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endocrine cell Other: Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein modification Signaling by Receptor Tyrosine Kinases
Signaling by Rho GTPases, Miro GTPases and RHOBTB3 Pathway Hierarchies & Genes Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 (1 genes) Signal Transduction Signaling by Rho GTPases, Miro GTPases and RHOBTB3 Signaling by Rho GTPases RHO GTPase Effectors RHO GTPases activate PKNs Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 1 genes RAC1 GTPase cycle (2 genes) Signal Transduction Signaling by Rho GTPases, Miro GTPases and RHOBTB3 Signaling by Rho GTPases RHO GTPase cycle RAC1 GTPase cycle 2 genes RHO GTPases Activate Formins (1 genes) Signal Transduction Signaling by Rho GTPases, Miro GTPases and RHOBTB3 Signaling by Rho GTPases RHO GTPase Effectors RHO GTPases Activate Formins 1 genes RHO GTPases activate IQGAPs (3 genes) Signal Transduction Signaling by Rho GTPases, Miro GTPases and RHOBTB3 Signaling by Rho GTPases RHO GTPase Effectors RHO GTPases activate IQGAPs 3 genes RHO GTPases activate PKNs (2 genes) Signal Transduction Signaling by Rho GTPases, Miro GTPases and RHOBTB3 Signaling by Rho GTPases RHO GTPase Effectors RHO GTPases activate PKNs 2 genes RHO GTPases regulate CFTR trafficking (1 genes) Signal Transduction Signaling by Rho GTPases, Miro GTPases and RHOBTB3 Signaling by Rho GTPases RHO GTPase Effectors RHO GTPases regulate CFTR trafficking 1 genes RHOA GTPase cycle (3 genes) Signal Transduction Signaling by Rho GTPases, Miro GTPases and RHOBTB3 Signaling by Rho GTPases RHO GTPase cycle RHOA GTPase cycle 3 genes RHOH GTPase cycle (1 genes) Signal Transduction Signaling by Rho GTPases, Miro GTPases and RHOBTB3 Signaling by Rho GTPases RHO GTPase cycle RHOH GTPase cycle 1 genes RHOU GTPase cycle (2 genes) Signal Transduction Signaling by Rho GTPases, Miro GTPases and RHOBTB3 Signaling by Rho GTPases RHO GTPase cycle RHOU GTPase cycle 2 genes RND3 GTPase cycle (1 genes) Signal Transduction Signaling by Rho GTPases, Miro GTPases and RHOBTB3 Signaling by Rho GTPases RHO GTPase cycle RND3 GTPase cycle 1 genes	AR Gene Information Basic Information Ensembl ID: ENSG00000169083 Description: androgen receptor [Source:HGNC Symbol;Acc:HGNC:644] Location: X:67544021-67730619 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: fibroblast stromal cell epithelial cell adipocyte Other: Cellular responses to stress Post-translational protein modification RNA Polymerase II Transcription ARHGAP18 Gene Information Basic Information Ensembl ID: ENSG00000146376 Description: Rho GTPase activating protein 18 [Source:HGNC Symbol;Acc:HGNC:21035] Location: 6:129576132-129710177 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell macrophage phagocyte mast cell epithelial cell platelet hematopoietic cell leukocyte Other: Signaling by Rho GTPases, Miro GTPases and RHOBTB3 ARHGAP29 Gene Information Basic Information Ensembl ID: ENSG00000137962 Description: Rho GTPase activating protein 29 [Source:HGNC Symbol;Acc:HGNC:30207] Location: 1:94148988-94275068 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell epithelial cell pericyte Other: Signaling by Rho GTPases, Miro GTPases and RHOBTB3 CDH1 Gene Information Basic Information Ensembl ID: ENSG00000039068 Description: cadherin 1 [Source:HGNC Symbol;Acc:HGNC:1748] Location: 16:68737292-68835537 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: goblet cell epithelial cell pneumocyte stem cell secretory cell tuft cell paneth cell ciliated cell neuroendocrine cell brush cell basal cell serous cell deuterosomal cell club Other: Apoptosis Adaptive Immune System Degradation of the extracellular matrix CFTR Gene Information Basic Information Ensembl ID: ENSG00000001626 Description: CF transmembrane conductance regulator [Source:HGNC Symbol;Acc:HGNC:1884] Location: 7:117287120-117715971 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stem cell enterocyte epithelial cell progenitor cell ionocyte tuft cell monocyte hepatocyte Other: Macroautophagy Membrane Trafficking ABC-family proteins mediated transport CTNNB1 Gene Information Basic Information Ensembl ID: ENSG00000168036 Description: catenin beta 1 [Source:HGNC Symbol;Acc:HGNC:2514] Location: 3:41194741-41260096 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell endothelial cell epithelial cell stem cell phagocyte adrenal cortical cell fibroblast monocyte Specialized T cell melanocyte M cell Other: Apoptosis Innate Immune System Signaling by WNT DOCK5 Gene Information Basic Information Ensembl ID: ENSG00000147459 Description: dedicator of cytokinesis 5 [Source:HGNC Symbol;Acc:HGNC:23476] Location: 8:25184689-25418082 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell endothelial cell dendritic cell sensory neuron glial cell neuron epithelial cell granulocyte monocyte neutrophil fibroblast Other: Factors involved in megakaryocyte development and platelet production Signaling by Rho GTPases, Miro GTPases and RHOBTB3 DSP Gene Information Basic Information Ensembl ID: ENSG00000096696 Description: desmoplakin [Source:HGNC Symbol;Acc:HGNC:3052] Location: 6:7541326-7586717 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell neuron endocrine cell trophoblast cell enteroendocrine cell thymic epithelial cell stem cell Other: Signaling by Rho GTPases, Miro GTPases and RHOBTB3 Apoptosis Innate Immune System DST Gene Information Basic Information Ensembl ID: ENSG00000151914 Description: dystonin [Source:HGNC Symbol;Acc:HGNC:1090] Location: 6:56457987-56954830 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell fibroblast neuron epithelial cell endocrine cell skeletal muscle cell stem cell embryonic cell bipolar cell glial cell smooth muscle cell schwann cell astrocyte dendritic cell macrophage Other: Collagen formation Cell junction organization Signaling by Rho GTPases, Miro GTPases and RHOBTB3 IQGAP2 Gene Information Basic Information Ensembl ID: ENSG00000145703 Description: IQ motif containing GTPase activating protein 2 [Source:HGNC Symbol;Acc:HGNC:6111] Location: 5:76403285-76708132 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: natural killer cell kidney cell developing T cell epithelial cell Regulatory T cell phagocyte CD4+ T cell CD8+ T cell basophil T cell antigen presenting cell hematopoietic cell macrophage Specialized T cell glial cell innate lymphoid cell erythroblast Other: Signaling by Rho GTPases, Miro GTPases and RHOBTB3 Innate Immune System JAG1 Gene Information Basic Information Ensembl ID: ENSG00000101384 Description: jagged canonical Notch ligand 1 [Source:HGNC Symbol;Acc:HGNC:6188] Location: 20:10637684-10673999 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte smooth muscle cell mural cell Other: Signaling by NOTCH RNA Polymerase II Transcription Signaling by Rho GTPases, Miro GTPases and RHOBTB3 LCK Gene Information Basic Information Ensembl ID: ENSG00000182866 Description: LCK proto-oncogene%2C Src family tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:6524] Location: 1:32251244-32286165 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell natural killer cell CD8+ T cell developing T cell T cell lymphocyte Other: Cytokine Signaling in Immune system Adaptive Immune System Innate Immune System MYL9 Gene Information Basic Information Ensembl ID: ENSG00000101335 Description: myosin light chain 9 [Source:HGNC Symbol;Acc:HGNC:15754] Location: 20:36541497-36551447 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell pericyte stellate cell fibroblast stromal cell smooth muscle cell platelet megakaryocyte Other: Smooth Muscle Contraction RNA Polymerase II Transcription Nervous system development PPP2R5C Gene Information Basic Information Ensembl ID: ENSG00000078304 Description: protein phosphatase 2 regulatory subunit B'gamma [Source:HGNC Symbol;Acc:HGNC:9311] Location: 14:101761709-101927989 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell natural killer cell CD8+ T cell developing T cell Specialized T cell CD4+ T cell T cell Other: Adaptive Immune System Signaling by WNT Platelet homeostasis SFN Gene Information Basic Information Ensembl ID: ENSG00000175793 Description: stratifin [Source:HGNC Symbol;Acc:HGNC:10773] Location: 1:26863149-26864456 (+) Biotype: protein_coding Species: Homo sapiens Annotations Other: Apoptosis Membrane Trafficking Cell Cycle Checkpoints SPTBN1 Gene Information Basic Information Ensembl ID: ENSG00000115306 Description: spectrin beta%2C non-erythrocytic 1 [Source:HGNC Symbol;Acc:HGNC:11275] Location: 2:54456327-54671446 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron adipocyte glial cell stromal cell epithelial cell schwann cell Other: Membrane Trafficking Nephrin family interactions MAPK family signaling cascades STOM Gene Information Basic Information Ensembl ID: ENSG00000148175 Description: stomatin [Source:HGNC Symbol;Acc:HGNC:3383] Location: 9:121338987-121370304 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Innate Immune System Signaling by Rho GTPases, Miro GTPases and RHOBTB3 Ion channel transport
Signaling by TGFB family members Pathway Hierarchies & Genes TGFBR3 PTM regulation (4 genes) Signal Transduction Signaling by TGFB family members Signaling by Activin Signaling by TGF-beta Receptor Complex 3 genes TGF-beta receptor signaling activates SMADs Signaling by BMP Signaling by TGFBR3 TGFBR3 PTM regulation 1 genes TGFBR3 regulates TGF-beta signaling (1 genes) Signal Transduction Signaling by TGFB family members Signaling by TGF-beta Receptor Complex TGF-beta receptor signaling activates SMADs Downregulation of TGF-beta receptor signaling Signaling by TGFBR3 TGFBR3 regulates TGF-beta signaling 1 genes Downregulation of SMAD2/3:SMAD4 transcriptional activity (2 genes) Signal Transduction Signaling by TGFB family members Signaling by TGF-beta Receptor Complex Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer Downregulation of SMAD2/3:SMAD4 transcriptional activity 2 genes SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription (1 genes) Signal Transduction Signaling by TGFB family members Signaling by TGF-beta Receptor Complex Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription 1 genes TGFBR3 expression (1 genes) Signal Transduction Signaling by TGFB family members Signaling by TGFBR3 TGFBR3 expression 1 genes	FBN1 Gene Information Basic Information Ensembl ID: ENSG00000166147 Description: fibrillin 1 [Source:HGNC Symbol;Acc:HGNC:3603] Location: 15:48408313-48645721 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: fibroblast epithelial cell stem cell stromal cell smooth muscle cell mesenchymal cell Other: Degradation of the extracellular matrix Elastic fibre formation Integrin cell surface interactions ITGB3 Gene Information Basic Information Ensembl ID: ENSG00000259207 Description: integrin subunit beta 3 [Source:HGNC Symbol;Acc:HGNC:6156] Location: 17:47253827-47313743 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: platelet epithelial cell monocyte Other: ECM proteoglycans Elastic fibre formation Cell surface interactions at the vascular wall LTBP2 Gene Information Basic Information Ensembl ID: ENSG00000119681 Description: latent transforming growth factor beta binding protein 2 [Source:HGNC Symbol;Acc:HGNC:6715] Location: 14:74498183-74612378 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell fibroblast stromal cell mesenchymal cell Other: Elastic fibre formation Signaling by TGFB family members MYC Gene Information Basic Information Ensembl ID: ENSG00000136997 Description: MYC proto-oncogene%2C bHLH transcription factor [Source:HGNC Symbol;Acc:HGNC:7553] Location: 8:127735434-127742951 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pericyte epithelial cell fibroblast stromal cell smooth muscle cell hematopoietic progenitor cell endothelial cell stem cell erythroblast muscle cell progenitor cell transient amplifying cell cancer stem cell B cell erythroid lineage cell Other: Cytokine Signaling in Immune system Signaling by NOTCH Signaling by WNT STAT1 Gene Information Basic Information Ensembl ID: ENSG00000115415 Description: signal transducer and activator of transcription 1 [Source:HGNC Symbol;Acc:HGNC:11362] Location: 2:190908460-191020960 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: dendritic cell Regulatory T cell CD8+ T cell leukocyte secretory cell monocyte epithelial cell Other: Cytokine Signaling in Immune system Signaling by NOTCH RNA Polymerase II Transcription TCF4 Gene Information Basic Information Ensembl ID: ENSG00000196628 Description: transcription factor 4 [Source:HGNC Symbol;Acc:HGNC:11634] Location: 18:55222185-55664787 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron dendritic cell Naive B cell Follicular B cell interneuron Other: Signaling by WNT Myogenesis Signaling by TGFB family members TGFBR2 Gene Information Basic Information Ensembl ID: ENSG00000163513 Description: transforming growth factor beta receptor 2 [Source:HGNC Symbol;Acc:HGNC:11773] Location: 3:30606478-30694249 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell glial cell fibroblast Other: Post-translational protein modification Signaling by TGFB family members Signaling by TGF-beta Receptor Complex in Cancer TGFBR3 Gene Information Basic Information Ensembl ID: ENSG00000069702 Description: transforming growth factor beta receptor 3 [Source:HGNC Symbol;Acc:HGNC:11774] Location: 1:91680343-91906335 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell natural killer cell epithelial cell stem cell fibroblast adipocyte stromal cell skeletal muscle cell Other: Signaling by Receptor Tyrosine Kinases Signaling by TGFB family members WWTR1 Gene Information Basic Information Ensembl ID: ENSG00000018408 Description: WW domain containing transcription regulator 1 [Source:HGNC Symbol;Acc:HGNC:24042] Location: 3:149517235-149736714 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell Other: Signaling by Hippo Cardiac conduction RNA Polymerase II Transcription
Signaling by WNT Pathway Hierarchies & Genes Ca2+ pathway (2 genes) Signal Transduction Signaling by WNT Degradation of beta-catenin by the destruction complex Beta-catenin phosphorylation cascade TCF dependent signaling in response to WNT Formation of the beta-catenin:TCF transactivating complex 1 genes Binding of TCF/LEF:CTNNB1 to target gene promoters Beta-catenin independent WNT signaling Ca2+ pathway 1 genes Ca2+ pathway (2 genes) Signal Transduction Signaling by WNT Degradation of beta-catenin by the destruction complex Repression of WNT target genes TCF dependent signaling in response to WNT Formation of the beta-catenin:TCF transactivating complex Binding of TCF/LEF:CTNNB1 to target gene promoters Beta-catenin independent WNT signaling Ca2+ pathway 2 genes Binding of TCF/LEF:CTNNB1 to target gene promoters (1 genes) Signal Transduction Signaling by WNT TCF dependent signaling in response to WNT Formation of the beta-catenin:TCF transactivating complex Binding of TCF/LEF:CTNNB1 to target gene promoters 1 genes Ca2+ pathway (5 genes) Signal Transduction Signaling by WNT Beta-catenin independent WNT signaling Ca2+ pathway 5 genes Deactivation of the beta-catenin transactivating complex (4 genes) Signal Transduction Signaling by WNT TCF dependent signaling in response to WNT Deactivation of the beta-catenin transactivating complex 4 genes Formation of the beta-catenin:TCF transactivating complex (1 genes) Signal Transduction Signaling by WNT TCF dependent signaling in response to WNT Formation of the beta-catenin:TCF transactivating complex 1 genes Negative regulation of TCF-dependent signaling by WNT ligand antagonists (1 genes) Signal Transduction Signaling by WNT TCF dependent signaling in response to WNT Negative regulation of TCF-dependent signaling by WNT ligand antagonists 1 genes Regulation of FZD by ubiquitination (1 genes) Signal Transduction Signaling by WNT TCF dependent signaling in response to WNT Regulation of FZD by ubiquitination 1 genes	CTNNB1 Gene Information Basic Information Ensembl ID: ENSG00000168036 Description: catenin beta 1 [Source:HGNC Symbol;Acc:HGNC:2514] Location: 3:41194741-41260096 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell endothelial cell epithelial cell stem cell phagocyte adrenal cortical cell fibroblast monocyte Specialized T cell melanocyte M cell Other: Apoptosis Innate Immune System Signaling by WNT GNAT2 Gene Information Basic Information Ensembl ID: ENSG00000134183 Description: G protein subunit alpha transducin 2 [Source:HGNC Symbol;Acc:HGNC:4394] Location: 1:109603091-109619929 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Signaling by WNT Signaling by GPCR GNB1 Gene Information Basic Information Ensembl ID: ENSG00000078369 Description: G protein subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:4396] Location: 1:1785285-1892292 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: photoreceptor cell monocyte memory B cell dendritic cell Other: Olfactory Signaling Pathway Protein folding Transmission across Chemical Synapses GNG11 Gene Information Basic Information Ensembl ID: ENSG00000127920 Description: G protein subunit gamma 11 [Source:HGNC Symbol;Acc:HGNC:4403] Location: 7:93921735-93928610 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell hematopoietic stem cell smooth muscle cell T cell megakaryocyte Other: Protein folding Transmission across Chemical Synapses Potassium Channels GNGT2 Gene Information Basic Information Ensembl ID: ENSG00000167083 Description: G protein subunit gamma transducin 2 [Source:HGNC Symbol;Acc:HGNC:4412] Location: 17:49202791-49210574 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Transmission across Chemical Synapses Potassium Channels Integration of energy metabolism LEF1 Gene Information Basic Information Ensembl ID: ENSG00000138795 Description: lymphoid enhancer binding factor 1 [Source:HGNC Symbol;Acc:HGNC:6551] Location: 4:108047545-108168956 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell developing T cell T cell Regulatory T cell Naive B cell CD4+ T cell lymphoid progenitor cell innate lymphoid cell Other: Signaling by WNT RNA Polymerase II Transcription Transcriptional regulation of granulopoiesis LGR5 Gene Information Basic Information Ensembl ID: ENSG00000139292 Description: leucine rich repeat containing G protein-coupled receptor 5 [Source:HGNC Symbol;Acc:HGNC:4504] Location: 12:71439798-71586310 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: glial cell epithelial cell skeletal muscle cell cancer stem cell endothelial cell stem cell progenitor cell Other: Signaling by WNT MYC Gene Information Basic Information Ensembl ID: ENSG00000136997 Description: MYC proto-oncogene%2C bHLH transcription factor [Source:HGNC Symbol;Acc:HGNC:7553] Location: 8:127735434-127742951 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pericyte epithelial cell fibroblast stromal cell smooth muscle cell hematopoietic progenitor cell endothelial cell stem cell erythroblast muscle cell progenitor cell transient amplifying cell cancer stem cell B cell erythroid lineage cell Other: Cytokine Signaling in Immune system Signaling by NOTCH Signaling by WNT PLCB1 Gene Information Basic Information Ensembl ID: ENSG00000182621 Description: phospholipase C beta 1 [Source:HGNC Symbol;Acc:HGNC:15917] Location: 20:8077251-8968360 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron goblet cell epithelial cell fibroblast smooth muscle cell T cell glial cell Other: Transmission across Chemical Synapses Inositol phosphate metabolism Integration of energy metabolism PPP2R5C Gene Information Basic Information Ensembl ID: ENSG00000078304 Description: protein phosphatase 2 regulatory subunit B'gamma [Source:HGNC Symbol;Acc:HGNC:9311] Location: 14:101761709-101927989 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell natural killer cell CD8+ T cell developing T cell Specialized T cell CD4+ T cell T cell Other: Adaptive Immune System Signaling by WNT Platelet homeostasis RUNX3 Gene Information Basic Information Ensembl ID: ENSG00000020633 Description: RUNX family transcription factor 3 [Source:HGNC Symbol;Acc:HGNC:10473] Location: 1:24899511-24965121 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell natural killer cell developing T cell Specialized T cell CD8+ T cell progenitor cell T cell lymphocyte Other: Signaling by WNT RNA Polymerase II Transcription SFRP1 Gene Information Basic Information Ensembl ID: ENSG00000104332 Description: secreted frizzled related protein 1 [Source:HGNC Symbol;Acc:HGNC:10776] Location: 8:41261962-41309473 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: fibroblast epithelial cell stem cell embryonic cell stromal cell glial cell schwann cell interstitial cell acinar cell Other: Signaling by WNT SOX17 Gene Information Basic Information Ensembl ID: ENSG00000164736 Description: SRY-box transcription factor 17 [Source:HGNC Symbol;Acc:HGNC:18122] Location: 8:54457935-54460892 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell epithelial cell embryonic cell pericyte Other: Signaling by WNT Developmental Cell Lineages Gastrulation SOX2 Gene Information Basic Information Ensembl ID: ENSG00000181449 Description: SRY-box transcription factor 2 [Source:HGNC Symbol;Acc:HGNC:11195] Location: 3:181711925-181714436 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell pericyte progenitor cell embryonic cell fibroblast glial cell neural crest cell stem cell cancer stem cell ectodermal cell basal cell Other: Cytokine Signaling in Immune system Signaling by WNT Transcriptional regulation of pluripotent stem cells SOX4 Gene Information Basic Information Ensembl ID: ENSG00000124766 Description: SRY-box transcription factor 4 [Source:HGNC Symbol;Acc:HGNC:11200] Location: 6:21593751-21598619 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: secretory cell Other: Signaling by WNT SOX9 Gene Information Basic Information Ensembl ID: ENSG00000125398 Description: SRY-box transcription factor 9 [Source:HGNC Symbol;Acc:HGNC:11204] Location: 17:72121020-72126416 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stem cell glial cell stromal cell tuft cell fibroblast ionocyte epithelial cell M cell chondrocyte cancer stem cell progenitor cell ductal cell Other: Signaling by WNT RNA Polymerase II Transcription Transcriptional regulation of testis differentiation TCF4 Gene Information Basic Information Ensembl ID: ENSG00000196628 Description: transcription factor 4 [Source:HGNC Symbol;Acc:HGNC:11634] Location: 18:55222185-55664787 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron dendritic cell Naive B cell Follicular B cell interneuron Other: Signaling by WNT Myogenesis Signaling by TGFB family members
Smooth Muscle Contraction Pathway Hierarchies & Genes Smooth Muscle Contraction (3 genes) Muscle contraction Smooth Muscle Contraction 3 genes	ITGA1 Gene Information Basic Information Ensembl ID: ENSG00000213949 Description: integrin subunit alpha 1 [Source:HGNC Symbol;Acc:HGNC:6134] Location: 5:52787916-52959209 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte developing T cell epithelial cell fibroblast glial cell stromal cell Specialized T cell smooth muscle cell CD8+ T cell T cell mesenchymal cell lymphocyte beta cell memory T cell Other: Integrin cell surface interactions Laminin interactions Smooth Muscle Contraction LMOD1 Gene Information Basic Information Ensembl ID: ENSG00000163431 Description: leiomodin 1 [Source:HGNC Symbol;Acc:HGNC:6647] Location: 1:201896456-201946548 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: smooth muscle cell pericyte epithelial cell mural cell Other: Smooth Muscle Contraction MYL9 Gene Information Basic Information Ensembl ID: ENSG00000101335 Description: myosin light chain 9 [Source:HGNC Symbol;Acc:HGNC:15754] Location: 20:36541497-36551447 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell pericyte stellate cell fibroblast stromal cell smooth muscle cell platelet megakaryocyte Other: Smooth Muscle Contraction RNA Polymerase II Transcription Nervous system development
Specification of primordial germ cells Pathway Hierarchies & Genes Specification of primordial germ cells (4 genes) Reproduction Specification of primordial germ cells 4 genes	EOMES Gene Information Basic Information Ensembl ID: ENSG00000163508 Description: eomesodermin [Source:HGNC Symbol;Acc:HGNC:3372] Location: 3:27715949-27722711 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: natural killer cell Specialized T cell CD8+ T cell T cell progenitor cell mesodermal cell brush cell Other: Transcriptional regulation of pluripotent stem cells Cardiogenesis Gastrulation PDPN Gene Information Basic Information Ensembl ID: ENSG00000162493 Description: podoplanin [Source:HGNC Symbol;Acc:HGNC:29602] Location: 1:13583465-13617957 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell CD4+ T cell fibroblast lymphocyte Other: Platelet activation, signaling and aggregation Specification of primordial germ cells PRDM1 Gene Information Basic Information Ensembl ID: ENSG00000057657 Description: PR/SET domain 1 [Source:HGNC Symbol;Acc:HGNC:9346] Location: 6:105993463-106109939 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell developing T cell Regulatory T cell embryonic cell plasma cell Specialized T cell CD4+ T cell CD8+ T cell T cell plasmablast Other: RNA Polymerase II Transcription Signaling by Receptor Tyrosine Kinases Specification of primordial germ cells SOX17 Gene Information Basic Information Ensembl ID: ENSG00000164736 Description: SRY-box transcription factor 17 [Source:HGNC Symbol;Acc:HGNC:18122] Location: 8:54457935-54460892 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell epithelial cell embryonic cell pericyte Other: Signaling by WNT Developmental Cell Lineages Gastrulation
Striated Muscle Contraction Pathway Hierarchies & Genes Striated Muscle Contraction (2 genes) Muscle contraction Striated Muscle Contraction 2 genes	MYBPC1 Gene Information Basic Information Ensembl ID: ENSG00000196091 Description: myosin binding protein C1 [Source:HGNC Symbol;Acc:HGNC:7549] Location: 12:101568353-101686028 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: skeletal muscle cell luminal cell Other: Striated Muscle Contraction TTN Gene Information Basic Information Ensembl ID: ENSG00000155657 Description: titin [Source:HGNC Symbol;Acc:HGNC:12403] Location: 2:178525989-178830802 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell cardiomyocyte skeletal muscle cell phagocyte pneumocyte muscle cell progenitor cell antigen presenting cell T cell memory B cell Regulatory T cell paneth cell Other: Striated Muscle Contraction Platelet activation, signaling and aggregation
Surfactant metabolism Pathway Hierarchies & Genes Surfactant metabolism (1 genes) Metabolism of proteins Surfactant metabolism 1 genes	SLC34A1 Gene Information Basic Information Ensembl ID: ENSG00000131183 Description: solute carrier family 34 member 1 [Source:HGNC Symbol;Acc:HGNC:11019] Location: 5:177379235-177398848 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell Other: SLC transporter disorders SLC-mediated transmembrane transport Surfactant metabolism
The CRY:PER:kinase complex represses transactivation by the BMAL:CLOCK (ARNTL:CLOCK) complex Pathway Hierarchies & Genes The CRY:PER:kinase complex represses transactivation by the BMAL:CLOCK (ARNTL:CLOCK) complex (1 genes) Circadian clock The CRY:PER:kinase complex represses transactivation by the BMAL:CLOCK (ARNTL:CLOCK) complex 1 genes	RORA Gene Information Basic Information Ensembl ID: ENSG00000069667 Description: RAR related orphan receptor A [Source:HGNC Symbol;Acc:HGNC:10258] Location: 15:60488284-61229302 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: memory T cell endothelial cell neuron natural killer cell CD8+ T cell pericyte developing T cell T cell stem cell CD4+ T cell bipolar cell fibroblast stromal cell smooth muscle cell epithelial cell macrophage Other: Cytokine Signaling in Immune system Cellular responses to stress Metabolism of lipids
Transcriptional regulation of granulopoiesis Pathway Hierarchies & Genes Transcriptional regulation of granulopoiesis (4 genes) Developmental Biology Transcriptional regulation of granulopoiesis 4 genes	CSF3R Gene Information Basic Information Ensembl ID: ENSG00000119535 Description: colony stimulating factor 3 receptor [Source:HGNC Symbol;Acc:HGNC:2439] Location: 1:36466043-36483278 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell trophoblast cell phagocyte microglia granulocyte monocyte neutrophil myeloid cell Other: Cytokine Signaling in Immune system Transcriptional regulation of granulopoiesis GATA2 Gene Information Basic Information Ensembl ID: ENSG00000179348 Description: GATA binding protein 2 [Source:HGNC Symbol;Acc:HGNC:4171] Location: 3:128479427-128493201 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell endothelial cell trophoblast cell mast cell basophil progenitor cell Other: RNA Polymerase II Transcription Transcriptional regulation of granulopoiesis Factors involved in megakaryocyte development and platelet production LEF1 Gene Information Basic Information Ensembl ID: ENSG00000138795 Description: lymphoid enhancer binding factor 1 [Source:HGNC Symbol;Acc:HGNC:6551] Location: 4:108047545-108168956 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell developing T cell T cell Regulatory T cell Naive B cell CD4+ T cell lymphoid progenitor cell innate lymphoid cell Other: Signaling by WNT RNA Polymerase II Transcription Transcriptional regulation of granulopoiesis MYC Gene Information Basic Information Ensembl ID: ENSG00000136997 Description: MYC proto-oncogene%2C bHLH transcription factor [Source:HGNC Symbol;Acc:HGNC:7553] Location: 8:127735434-127742951 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pericyte epithelial cell fibroblast stromal cell smooth muscle cell hematopoietic progenitor cell endothelial cell stem cell erythroblast muscle cell progenitor cell transient amplifying cell cancer stem cell B cell erythroid lineage cell Other: Cytokine Signaling in Immune system Signaling by NOTCH Signaling by WNT
Transcriptional regulation of pluripotent stem cells Pathway Hierarchies & Genes POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation (4 genes) Developmental Biology Transcriptional regulation of pluripotent stem cells 1 genes POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation 2 genes POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation 1 genes	EOMES Gene Information Basic Information Ensembl ID: ENSG00000163508 Description: eomesodermin [Source:HGNC Symbol;Acc:HGNC:3372] Location: 3:27715949-27722711 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: natural killer cell Specialized T cell CD8+ T cell T cell progenitor cell mesodermal cell brush cell Other: Transcriptional regulation of pluripotent stem cells Cardiogenesis Gastrulation EPAS1 Gene Information Basic Information Ensembl ID: ENSG00000116016 Description: endothelial PAS domain protein 1 [Source:HGNC Symbol;Acc:HGNC:3374] Location: 2:46293667-46386697 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell pericyte trophoblast cell smooth muscle cell innate lymphoid cell Other: Macroautophagy Cellular responses to stress Transcriptional regulation of pluripotent stem cells HHEX Gene Information Basic Information Ensembl ID: ENSG00000152804 Description: hematopoietically expressed homeobox [Source:HGNC Symbol;Acc:HGNC:4901] Location: 10:92689955-92695647 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: enteroendocrine cell cardiomyocyte endothelial cell Other: Transcriptional regulation of pluripotent stem cells Developmental Cell Lineages SOX2 Gene Information Basic Information Ensembl ID: ENSG00000181449 Description: SRY-box transcription factor 2 [Source:HGNC Symbol;Acc:HGNC:11195] Location: 3:181711925-181714436 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell pericyte progenitor cell embryonic cell fibroblast glial cell neural crest cell stem cell cancer stem cell ectodermal cell basal cell Other: Cytokine Signaling in Immune system Signaling by WNT Transcriptional regulation of pluripotent stem cells
Transcriptional regulation of testis differentiation Pathway Hierarchies & Genes Transcriptional regulation of testis differentiation (2 genes) Developmental Biology Transcriptional regulation of testis differentiation 2 genes	SOX9 Gene Information Basic Information Ensembl ID: ENSG00000125398 Description: SRY-box transcription factor 9 [Source:HGNC Symbol;Acc:HGNC:11204] Location: 17:72121020-72126416 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stem cell glial cell stromal cell tuft cell fibroblast ionocyte epithelial cell M cell chondrocyte cancer stem cell progenitor cell ductal cell Other: Signaling by WNT RNA Polymerase II Transcription Transcriptional regulation of testis differentiation WT1 Gene Information Basic Information Ensembl ID: ENSG00000184937 Description: WT1 transcription factor [Source:HGNC Symbol;Acc:HGNC:12796] Location: 11:32387775-32435564 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell stromal cell podocyte mesothelial cell Other: Cell junction organization Transcriptional regulation of testis differentiation Kidney development
Translation Pathway Hierarchies & Genes SRP-dependent cotranslational protein targeting to membrane (3 genes) Metabolism of proteins Translation SRP-dependent cotranslational protein targeting to membrane 3 genes	SPCS2 Gene Information Basic Information Ensembl ID: ENSG00000118363 Description: signal peptidase complex subunit 2 [Source:HGNC Symbol;Acc:HGNC:28962] Location: 11:74949261-74979033 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: Naive B cell stromal cell plasma cell plasmablast Other: Peptide hormone metabolism Cell junction organization Translation SSR2 Gene Information Basic Information Ensembl ID: ENSG00000163479 Description: signal sequence receptor subunit 2 [Source:HGNC Symbol;Acc:HGNC:11324] Location: 1:156009048-156020951 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: stellate cell schwann cell stem cell mesodermal cell stromal cell fibroblast plasmablast dendritic cell mast cell Other: Translation SSR3 Gene Information Basic Information Ensembl ID: ENSG00000114850 Description: signal sequence receptor subunit 3 [Source:HGNC Symbol;Acc:HGNC:11325] Location: 3:156539553-156555149 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: Naive B cell plasma cell stromal cell pancreatic cell fibroblast plasmablast trophoblast cell Other: Translation
Transmission across Chemical Synapses Pathway Hierarchies & Genes Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits (3 genes) Neuronal System Transmission across Chemical Synapses Neurotransmitter receptors and postsynaptic signal transmission GABA receptor activation GABA B receptor activation Activation of GABAB receptors Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits 3 genes Ras activation upon Ca2+ influx through NMDA receptor (1 genes) Neuronal System Transmission across Chemical Synapses Neurotransmitter receptors and postsynaptic signal transmission Activation of NMDA receptors and postsynaptic events Post NMDA receptor activation events CREB1 phosphorylation through NMDA receptor-mediated activation of RAS signaling Ras activation upon Ca2+ influx through NMDA receptor 1 genes Activation of Na-permeable kainate receptors (1 genes) Neuronal System Transmission across Chemical Synapses Neurotransmitter receptors and postsynaptic signal transmission Activation of kainate receptors upon glutamate binding Ionotropic activity of kainate receptors Activation of Na-permeable kainate receptors 1 genes Astrocytic Glutamate-Glutamine Uptake And Metabolism (1 genes) Neuronal System Transmission across Chemical Synapses Neurotransmitter release cycle Glutamate Neurotransmitter Release Cycle Neurotransmitter uptake and metabolism In glial cells Astrocytic Glutamate-Glutamine Uptake And Metabolism 1 genes GABA synthesis (1 genes) Neuronal System Transmission across Chemical Synapses Neurotransmitter release cycle GABA synthesis, release, reuptake and degradation GABA synthesis 1 genes Presynaptic function of Kainate receptors (1 genes) Neuronal System Transmission across Chemical Synapses Neurotransmitter receptors and postsynaptic signal transmission Activation of kainate receptors upon glutamate binding Presynaptic function of Kainate receptors 1 genes GABA receptor activation (1 genes) Neuronal System Transmission across Chemical Synapses Neurotransmitter receptors and postsynaptic signal transmission GABA receptor activation 1 genes Serotonin Neurotransmitter Release Cycle (2 genes) Neuronal System Transmission across Chemical Synapses Neurotransmitter release cycle Serotonin Neurotransmitter Release Cycle 2 genes	CAMK2B Gene Information Basic Information Ensembl ID: ENSG00000058404 Description: calcium/calmodulin dependent protein kinase II beta [Source:HGNC Symbol;Acc:HGNC:1461] Location: 7:44210019-44334577 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: interneuron neuron Other: Transmission across Chemical Synapses Cytokine Signaling in Immune system Cellular responses to stress GABRQ Gene Information Basic Information Ensembl ID: ENSG00000268089 Description: gamma-aminobutyric acid type A receptor subunit theta [Source:HGNC Symbol;Acc:HGNC:14454] Location: X:152637895-152657542 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: projection neuron Other: Transmission across Chemical Synapses Signaling by Receptor Tyrosine Kinases GAD2 Gene Information Basic Information Ensembl ID: ENSG00000136750 Description: glutamate decarboxylase 2 [Source:HGNC Symbol;Acc:HGNC:4093] Location: 10:26216665-26304558 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: interneuron endocrine cell Other: Transmission across Chemical Synapses RNA Polymerase II Transcription GNB1 Gene Information Basic Information Ensembl ID: ENSG00000078369 Description: G protein subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:4396] Location: 1:1785285-1892292 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: photoreceptor cell monocyte memory B cell dendritic cell Other: Olfactory Signaling Pathway Protein folding Transmission across Chemical Synapses GNG11 Gene Information Basic Information Ensembl ID: ENSG00000127920 Description: G protein subunit gamma 11 [Source:HGNC Symbol;Acc:HGNC:4403] Location: 7:93921735-93928610 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell hematopoietic stem cell smooth muscle cell T cell megakaryocyte Other: Protein folding Transmission across Chemical Synapses Potassium Channels GNGT2 Gene Information Basic Information Ensembl ID: ENSG00000167083 Description: G protein subunit gamma transducin 2 [Source:HGNC Symbol;Acc:HGNC:4412] Location: 17:49202791-49210574 (-) Biotype: protein_coding Species: Homo sapiens Annotations Other: Transmission across Chemical Synapses Potassium Channels Integration of energy metabolism GRIK1 Gene Information Basic Information Ensembl ID: ENSG00000171189 Description: glutamate ionotropic receptor kainate type subunit 1 [Source:HGNC Symbol;Acc:HGNC:4579] Location: 21:29536933-29940033 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: interneuron oligodendrocyte precursor cell epithelial cell Other: Transmission across Chemical Synapses PLCB1 Gene Information Basic Information Ensembl ID: ENSG00000182621 Description: phospholipase C beta 1 [Source:HGNC Symbol;Acc:HGNC:15917] Location: 20:8077251-8968360 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron goblet cell epithelial cell fibroblast smooth muscle cell T cell glial cell Other: Transmission across Chemical Synapses Inositol phosphate metabolism Integration of energy metabolism SLC18A2 Gene Information Basic Information Ensembl ID: ENSG00000165646 Description: solute carrier family 18 member A2 [Source:HGNC Symbol;Acc:HGNC:10935] Location: 10:117241093-117279430 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: blood cell dendritic cell mast cell Other: Transmission across Chemical Synapses SLC-mediated transmembrane transport SLC1A3 Gene Information Basic Information Ensembl ID: ENSG00000079215 Description: solute carrier family 1 member 3 [Source:HGNC Symbol;Acc:HGNC:10941] Location: 5:36596588-36688334 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: bergmann glial cell epithelial cell macrophage embryonic cell phagocyte monocyte antigen presenting cell glial cell adipocyte astrocyte Other: Transmission across Chemical Synapses SLC-mediated transmembrane transport SLC transporter disorders SNAP25 Gene Information Basic Information Ensembl ID: ENSG00000132639 Description: synaptosome associated protein 25 [Source:HGNC Symbol;Acc:HGNC:11132] Location: 20:10172395-10308258 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: neuron endocrine cell sensory neuron motor neuron Other: Transmission across Chemical Synapses Cytokine Signaling in Immune system Integration of energy metabolism
Transmission across Electrical Synapses Pathway Hierarchies & Genes Electric Transmission Across Gap Junctions (1 genes) Neuronal System Transmission across Electrical Synapses Electric Transmission Across Gap Junctions 1 genes	GJC1 Gene Information Basic Information Ensembl ID: ENSG00000182963 Description: gap junction protein gamma 1 [Source:HGNC Symbol;Acc:HGNC:4280] Location: 17:44798448-44830816 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: pericyte smooth muscle cell mural cell Other: Transmission across Electrical Synapses Membrane Trafficking
Visual phototransduction Pathway Hierarchies & Genes Activation of the phototransduction cascade (2 genes) Sensory Perception Visual phototransduction The phototransduction cascade Activation of the phototransduction cascade 2 genes Retinoid metabolism and transport (2 genes) Sensory Perception Visual phototransduction Retinoid metabolism and transport 2 genes	GNAT1 Gene Information Basic Information Ensembl ID: ENSG00000114349 Description: G protein subunit alpha transducin 1 [Source:HGNC Symbol;Acc:HGNC:4393] Location: 3:50191610-50197696 (+) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: photoreceptor cell Other: Visual phototransduction Signaling by GPCR GNB1 Gene Information Basic Information Ensembl ID: ENSG00000078369 Description: G protein subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:4396] Location: 1:1785285-1892292 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: photoreceptor cell monocyte memory B cell dendritic cell Other: Olfactory Signaling Pathway Protein folding Transmission across Chemical Synapses HSPG2 Gene Information Basic Information Ensembl ID: ENSG00000142798 Description: heparan sulfate proteoglycan 2 [Source:HGNC Symbol;Acc:HGNC:5273] Location: 1:21822244-21937310 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: endothelial cell neuron glial cell adipocyte Other: Degradation of the extracellular matrix Metabolism of vitamins and cofactors Integrin cell surface interactions LRP2 Gene Information Basic Information Ensembl ID: ENSG00000081479 Description: LDL receptor related protein 2 [Source:HGNC Symbol;Acc:HGNC:6694] Location: 2:169127109-169362534 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: epithelial cell glial cell Other: Metabolism of vitamins and cofactors Membrane Trafficking Visual phototransduction

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