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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 'Disease' pathways. You can click on the pathway to see the full heirarchy and which levels are impacted by genes in the panel.

Annotation	Genes
ABC transporter disorders Pathway Hierarchies & Genes Defective CFTR causes cystic fibrosis (2 genes) Disease Disorders of transmembrane transporters ABC transporter disorders Defective CFTR causes cystic fibrosis 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
Bacterial Infection Pathways Pathway Hierarchies & Genes Attachment of bacteria to epithelial cells (6 genes) Disease Infectious disease Bacterial Infection Pathways Infection with Enterobacteria Biofilm formation Attachment of bacteria to epithelial cells 6 genes Mtb iron assimilation by chelation (1 genes) Disease Infectious disease Bacterial Infection Pathways Infection with Mycobacterium tuberculosis Latent infection - Other responses of Mtb to phagocytosis Mtb iron assimilation by chelation 1 genes Toxicity of botulinum toxin type A (botA) (1 genes) Disease Infectious disease Bacterial Infection Pathways Uptake and actions of bacterial toxins Neurotoxicity of clostridium toxins Toxicity of botulinum toxin type A (botA) 1 genes InlA-mediated entry of Listeria monocytogenes into host cells (2 genes) Disease Infectious disease Bacterial Infection Pathways Listeria monocytogenes entry into host cells InlA-mediated entry of Listeria monocytogenes into host cells 2 genes InlB-mediated entry of Listeria monocytogenes into host cell (1 genes) Disease Infectious disease Bacterial Infection Pathways Listeria monocytogenes entry into host cells InlB-mediated entry of Listeria monocytogenes into host cell 1 genes Modulation by Mtb of host immune system (1 genes) Disease Infectious disease Bacterial Infection Pathways Infection with Mycobacterium tuberculosis Modulation by Mtb of host immune system 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 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 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 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 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 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 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 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
Defective Intrinsic Pathway for Apoptosis Pathway Hierarchies & Genes Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models (1 genes) Disease Diseases of programmed cell death Defective Intrinsic Pathway for Apoptosis Neurodegenerative Diseases Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models 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
Defects of contact activation system (CAS) and kallikrein/kinin system (KKS) Pathway Hierarchies & Genes Defective F8 cleavage by thrombin (1 genes) Disease Diseases of hemostasis Defects of contact activation system (CAS) and kallikrein/kinin system (KKS) Defective factor VIII causes hemophilia A Defective F8 cleavage by thrombin 1 genes	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
Defects of platelet adhesion to exposed collagen Pathway Hierarchies & Genes Defective binding of VWF variant to GPIb:IX:V (1 genes) Disease Diseases of hemostasis Defects of platelet adhesion to exposed collagen Enhanced cleavage of VWF variant by ADAMTS13 Enhanced binding of GP1BA variant to VWF multimer:collagen Defective VWF cleavage by ADAMTS13 variant Defective VWF binding to collagen type I Defective binding of VWF variant to GPIb:IX:V 1 genes	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
Diseases associated with the TLR signaling cascade Pathway Hierarchies & Genes IRAK4 deficiency (TLR2/4) (2 genes) Disease Diseases of Immune System Diseases associated with the TLR signaling cascade MyD88 deficiency (TLR2/4) IRAK4 deficiency (TLR2/4) 2 genes	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 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
Diseases of carbohydrate metabolism Pathway Hierarchies & Genes Intestinal saccharidase deficiencies (1 genes) Disease Diseases of metabolism Diseases of carbohydrate metabolism Intestinal saccharidase deficiencies 1 genes	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
Diseases of glycosylation Pathway Hierarchies & Genes Defective B4GALT7 causes EDS, progeroid type (2 genes) Disease Diseases of metabolism Diseases of glycosylation Diseases associated with glycosaminoglycan metabolism Defective B4GALT7 causes EDS, progeroid type 2 genes Defective CHST6 causes MCDC1 (2 genes) Disease Diseases of metabolism Diseases of glycosylation Diseases associated with glycosaminoglycan metabolism Defective CHST6 causes MCDC1 2 genes Defective GALNT3 causes HFTC (1 genes) Disease Diseases of metabolism Diseases of glycosylation Diseases associated with O-glycosylation of proteins Defective GALNT3 causes HFTC 1 genes Diseases associated with glycosaminoglycan metabolism (1 genes) Disease Diseases of metabolism Diseases of glycosylation Diseases associated with glycosaminoglycan metabolism 1 genes	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 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 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
FLT3 signaling in disease Pathway Hierarchies & Genes FLT3 signaling by CBL mutants (1 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers FLT3 signaling in disease Drug resistance of FLT3 mutants KW2449-resistant FLT3 mutants FLT3 mutants bind TKIs Signaling by FLT3 ITD and TKD mutants STAT5 activation downstream of FLT3 ITD mutants FLT3 signaling by CBL mutants 1 genes Signaling by FLT3 fusion proteins (1 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers FLT3 signaling in disease Signaling by FLT3 fusion proteins 1 genes	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 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
Oncogenic MAPK signaling Pathway Hierarchies & Genes Signaling by RAF1 mutants (4 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Oncogenic MAPK signaling Signaling by moderate kinase activity BRAF mutants Signaling by high-kinase activity BRAF mutants Signaling by RAS mutants Signaling downstream of RAS mutants Signaling by BRAF and RAF1 fusions Paradoxical activation of RAF signaling by kinase inactive BRAF 1 genes Signaling by RAF1 mutants 3 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 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
PI3K/AKT Signaling in Cancer Pathway Hierarchies & Genes Constitutive Signaling by Aberrant PI3K in Cancer (15 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers PI3K/AKT Signaling in Cancer Constitutive Signaling by Aberrant PI3K in Cancer 15 genes	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 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 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 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
Parasitic Infection Pathways Pathway Hierarchies & Genes ADORA2B mediated anti-inflammatory cytokines production (3 genes) Disease Infectious disease Parasitic Infection Pathways Leishmania infection Leishmania parasite growth and survival Anti-inflammatory response favouring Leishmania parasite infection ADORA2B mediated anti-inflammatory cytokines production 3 genes CD163 mediating an anti-inflammatory response (1 genes) Disease Infectious disease Parasitic Infection Pathways Leishmania infection Leishmania parasite growth and survival Anti-inflammatory response favouring Leishmania parasite infection CD163 mediating an anti-inflammatory response 1 genes FCGR3A-mediated IL10 synthesis (1 genes) Disease Infectious disease Parasitic Infection Pathways Leishmania infection Leishmania parasite growth and survival Anti-inflammatory response favouring Leishmania parasite infection FCGR3A-mediated IL10 synthesis 1 genes Purinergic signaling in leishmaniasis infection (2 genes) Disease Infectious disease Parasitic Infection Pathways Leishmania infection Cell recruitment (pro-inflammatory response) Purinergic signaling in leishmaniasis infection 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 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 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 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 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
SLC transporter disorders Pathway Hierarchies & Genes Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN) (1 genes) Disease Disorders of transmembrane transporters SLC transporter disorders Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN) 1 genes Defective SLC12A3 causes Gitelman syndrome (GS) (1 genes) Disease Disorders of transmembrane transporters SLC transporter disorders Defective SLC12A3 causes Gitelman syndrome (GS) 1 genes Defective SLC1A3 causes episodic ataxia 6 (EA6) (1 genes) Disease Disorders of transmembrane transporters SLC transporter disorders Defective SLC1A3 causes episodic ataxia 6 (EA6) 1 genes Defective SLC26A2 causes chondrodysplasias (1 genes) Disease Disorders of transmembrane transporters SLC transporter disorders Defective SLC26A2 causes chondrodysplasias 1 genes Defective SLC26A4 causes Pendred syndrome (PDS) (1 genes) Disease Disorders of transmembrane transporters SLC transporter disorders Defective SLC26A4 causes Pendred syndrome (PDS) 1 genes Defective SLC34A1 causes hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1) (1 genes) Disease Disorders of transmembrane transporters SLC transporter disorders Defective SLC34A1 causes hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1) 1 genes Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA) (1 genes) Disease Disorders of transmembrane transporters SLC transporter disorders Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA) 1 genes Defective SLC7A7 causes lysinuric protein intolerance (LPI) (1 genes) Disease Disorders of transmembrane transporters SLC transporter disorders Defective SLC7A7 causes lysinuric protein intolerance (LPI) 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 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 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 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 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 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 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
Signaling by ALK in cancer Pathway Hierarchies & Genes Nuclear events stimulated by ALK signaling in cancer (2 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Signaling by ALK in cancer Signaling by ALK fusions and activated point mutants Nuclear events stimulated by ALK signaling in cancer 2 genes Signaling by ALK fusions and activated point mutants (2 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Signaling by ALK in cancer Signaling by ALK fusions and activated point mutants 2 genes	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 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 PRF1 Gene Information Basic Information Ensembl ID: ENSG00000180644 Description: perforin 1 [Source:HGNC Symbol;Acc:HGNC:9360] Location: 10:70597348-70602759 (-) Biotype: protein_coding Species: Homo sapiens Annotations Cell Type Markers: natural killer cell developing T cell T cell memory T cell Other: Signaling by ALK 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 EGFR in Cancer Pathway Hierarchies & Genes Inhibition of Signaling by Overexpressed EGFR (2 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Signaling by EGFR in Cancer Signaling by Ligand-Responsive EGFR Variants in Cancer Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants Signaling by EGFRvIII in Cancer Constitutive Signaling by EGFRvIII Signaling by Overexpressed Wild-Type EGFR in Cancer Inhibition of Signaling by Overexpressed EGFR 2 genes Inhibition of Signaling by Overexpressed EGFR (1 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Signaling by EGFR in Cancer Signaling by Overexpressed Wild-Type EGFR in Cancer Inhibition of Signaling by Overexpressed EGFR 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 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 ERBB2 in Cancer Pathway Hierarchies & Genes Signaling by ERBB2 TMD/JMD mutants (2 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Signaling by ERBB2 in Cancer Signaling by ERBB2 KD Mutants Signaling by ERBB2 ECD mutants Signaling by ERBB2 TMD/JMD mutants 2 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
Signaling by FGFR in disease Pathway Hierarchies & Genes Signaling by activated point mutants of FGFR3 (1 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Signaling by FGFR in disease Signaling by FGFR3 in disease FGFR3 mutant receptor activation Signaling by activated point mutants of FGFR3 1 genes Signaling by cytosolic FGFR1 fusion mutants (1 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Signaling by FGFR in disease Signaling by FGFR1 in disease FGFR1 mutant receptor activation Signaling by cytosolic FGFR1 fusion mutants 1 genes	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 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 KIT in disease Pathway Hierarchies & Genes Signaling by extracellular domain mutants of KIT (1 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Signaling by KIT in disease Drug resistance of KIT mutants Dasatinib-resistant KIT mutants KIT mutants bind TKIs Signaling by kinase domain mutants of KIT Signaling by juxtamembrane domain KIT mutants Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants Signaling by extracellular domain mutants of KIT 1 genes Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants (2 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Signaling by KIT in disease Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants 2 genes	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 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 NOTCH1 in Cancer Pathway Hierarchies & Genes Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants (4 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Signaling by NOTCH1 in Cancer Signaling by NOTCH1 PEST Domain Mutants in Cancer Constitutive Signaling by NOTCH1 PEST Domain Mutants Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant 2 genes Signaling by NOTCH1 HD Domain Mutants in Cancer Constitutive Signaling by NOTCH1 HD Domain Mutants 1 genes Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants 1 genes	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
Signaling by PDGFR in disease Pathway Hierarchies & Genes PDGFR mutants bind TKIs (2 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Signaling by PDGFR in disease Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants Signaling by PDGFRA extracellular domain mutants 1 genes Drug resistance of PDGFR mutants Imatinib-resistant PDGFR mutants PDGFR mutants bind TKIs 1 genes	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 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 TGF-beta Receptor Complex in Cancer Pathway Hierarchies & Genes TGFBR1 KD Mutants in Cancer (1 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Signaling by TGF-beta Receptor Complex in Cancer Loss of Function of SMAD2/3 in Cancer SMAD2/3 Phosphorylation Motif Mutants in Cancer Loss of Function of TGFBR2 in Cancer TGFBR2 MSI Frameshift Mutants in Cancer Loss of Function of TGFBR1 in Cancer TGFBR1 KD Mutants in Cancer 1 genes	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
Signaling by WNT in cancer Pathway Hierarchies & Genes Signaling by GSK3beta mutants (1 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Signaling by WNT in cancer Signaling by AXIN mutants AXIN missense mutants destabilize the destruction complex Signaling by CTNNB1 phospho-site mutants CTNNB1 S33 mutants aren't phosphorylated Signaling by APC mutants APC truncation mutants have impaired AXIN binding Signaling by AMER1 mutants Truncations of AMER1 destabilize the destruction complex Signaling by GSK3beta mutants 1 genes Signaling by GSK3beta mutants (1 genes) Disease Diseases of signal transduction by growth factor receptors and second messengers Signaling by WNT in cancer Signaling by CTNNB1 phospho-site mutants CTNNB1 S33 mutants aren't phosphorylated Signaling by GSK3beta mutants 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 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
Viral Infection Pathways Pathway Hierarchies & Genes Respiratory syncytial virus (RSV) attachment and entry (1 genes) Disease Infectious disease Viral Infection Pathways SARS-CoV Infections SARS-CoV-2 Infection Early SARS-CoV-2 Infection Events Attachment and Entry Respiratory Syncytial Virus Infection Pathway Respiratory syncytial virus (RSV) attachment and entry 1 genes Nef Mediated CD4 Down-regulation (2 genes) Disease Infectious disease Viral Infection Pathways HIV Infection Host Interactions of HIV factors The role of Nef in HIV-1 replication and disease pathogenesis Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters Nef Mediated CD4 Down-regulation 2 genes Nef mediated downregulation of CD28 cell surface expression (1 genes) Disease Infectious disease Viral Infection Pathways HIV Infection Host Interactions of HIV factors The role of Nef in HIV-1 replication and disease pathogenesis Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters Nef mediated downregulation of CD28 cell surface expression 1 genes Nef and signal transduction (1 genes) Disease Infectious disease Viral Infection Pathways HIV Infection Host Interactions of HIV factors The role of Nef in HIV-1 replication and disease pathogenesis Nef and signal transduction 1 genes Respiratory syncytial virus (RSV) attachment and entry (1 genes) Disease Infectious disease Viral Infection Pathways HCMV Infection HCMV Early Events Respiratory Syncytial Virus Infection Pathway Respiratory syncytial virus (RSV) attachment and entry 1 genes SARS-CoV-1 targets host intracellular signalling and regulatory pathways (1 genes) Disease Infectious disease Viral Infection Pathways SARS-CoV Infections SARS-CoV-1 Infection SARS-CoV-1-host interactions SARS-CoV-1 targets host intracellular signalling and regulatory pathways 1 genes SARS-CoV-2 activates/modulates innate and adaptive immune responses (2 genes) Disease Infectious disease Viral Infection Pathways SARS-CoV Infections SARS-CoV-2 Infection SARS-CoV-2-host interactions SARS-CoV-2 activates/modulates innate and adaptive immune responses 2 genes Maturation of hRSV A proteins (1 genes) Disease Infectious disease Viral Infection Pathways Respiratory Syncytial Virus Infection Pathway Respiratory syncytial virus (RSV) genome replication, transcription and translation Maturation of hRSV A proteins 1 genes Potential therapeutics for SARS (4 genes) Disease Infectious disease Viral Infection Pathways SARS-CoV Infections Potential therapeutics for SARS 4 genes Respiratory syncytial virus (RSV) attachment and entry (2 genes) Disease Infectious disease Viral Infection Pathways Respiratory Syncytial Virus Infection Pathway Respiratory syncytial virus (RSV) attachment and entry 2 genes	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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

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