JAK3
Summary: The protein encoded by this gene is a member of the Janus kinase (JAK) family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction. It is predominantly expressed in immune cells and transduces a signal in response to its activation via tyrosine phosphorylation by interleukin receptors. Mutations in this gene are associated with autosomal SCID (severe combined immunodeficiency disease). [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| Janus kinase 3 | MIM:600173 | Ensembl:ENSG00000105639 | HGNC:HGNC:6193 | PA29990 | 19p13.11 |
GO terms in JAK3
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | TAS | GO:0005768 | endosome |
| CC | TAS | GO:0005829 | cytosol |
| CC | IEA | GO:0005856 | cytoskeleton |
| BP | TAS | GO:0000165 | MAPK cascade |
| BP | IEA | GO:0002250 | adaptive immune response |
| BP | ISS | GO:0002731 | negative regulation of dendritic cell cytokine production |
| BP | TAS | GO:0006468 | protein phosphorylation |
| BP | ISS | GO:0007167 | enzyme linked receptor protein signaling pathway |
| BP | IBA | GO:0007260 | tyrosine phosphorylation of STAT protein |
| BP | TAS | GO:0007260 | tyrosine phosphorylation of STAT protein |
| BP | ISS | GO:0018108 | peptidyl-tyrosine phosphorylation |
| BP | IBA | GO:0019221 | cytokine-mediated signaling pathway |
| BP | TAS | GO:0019221 | cytokine-mediated signaling pathway |
| BP | IBA | GO:0030183 | B cell differentiation |
| BP | ISS | GO:0030183 | B cell differentiation |
| BP | IBA | GO:0030218 | erythrocyte differentiation |
| BP | ISS | GO:0032693 | negative regulation of interleukin-10 production |
| BP | ISS | GO:0032695 | negative regulation of interleukin-12 production |
| BP | ISS | GO:0035556 | intracellular signal transduction |
| BP | TAS | GO:0035723 | interleukin-15-mediated signaling pathway |
| BP | IDA | GO:0035771 | interleukin-4-mediated signaling pathway |
| BP | TAS | GO:0038110 | interleukin-2-mediated signaling pathway |
| BP | TAS | GO:0038111 | interleukin-7-mediated signaling pathway |
| BP | TAS | GO:0038113 | interleukin-9-mediated signaling pathway |
| BP | TAS | GO:0038114 | interleukin-21-mediated signaling pathway |
| BP | IBA | GO:0042102 | positive regulation of T cell proliferation |
| BP | IBA | GO:0042981 | regulation of apoptotic process |
| BP | IBA | GO:0043029 | T cell homeostasis |
| BP | ISS | GO:0043029 | T cell homeostasis |
| BP | TAS | GO:0043029 | T cell homeostasis |
| BP | ISS | GO:0045221 | negative regulation of FasL biosynthetic process |
| BP | ISS | GO:0045626 | negative regulation of T-helper 1 cell differentiation |
| BP | TAS | GO:0046425 | regulation of JAK-STAT cascade |
| BP | ISS | GO:0050868 | negative regulation of T cell activation |
| BP | TAS | GO:0060397 | JAK-STAT cascade involved in growth hormone signaling pathway |
| BP | ISS | GO:0070232 | regulation of T cell apoptotic process |
| BP | ISS | GO:0070244 | negative regulation of thymocyte apoptotic process |
| BP | TAS | GO:0070669 | response to interleukin-2 |
| BP | IDA | GO:0070670 | response to interleukin-4 |
| BP | TAS | GO:0070672 | response to interleukin-15 |
| BP | TAS | GO:0071104 | response to interleukin-9 |
| MF | ISS | GO:0004713 | protein tyrosine kinase activity |
| MF | TAS | GO:0004713 | protein tyrosine kinase activity |
| MF | TAS | GO:0005088 | Ras guanyl-nucleotide exchange factor activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005524 | ATP binding |
| MF | IPI | GO:0019903 | protein phosphatase binding |
Gene expression in normal tissue: JAK3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in JAK3
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| biocarta | her2pathway | role of erbb2 in signal transduction and oncology |
| biocarta | il2pathway | il 2 signaling pathway |
| biocarta | il2rbpathway | il-2 receptor beta chain in t cell activation |
| biocarta | il4pathway | il 4 signaling pathway |
| biocarta | il6pathway | il 6 signaling pathway |
| biocarta | il7pathway | il-7 signal transduction |
| biocarta | stat3pathway | stat3 signaling pathway |
| reactome | R-HSA-1266695 | Interleukin-7 signaling |
| reactome | R-HSA-1266695 | Interleukin-7 signaling |
| reactome | R-HSA-1280215 | Cytokine Signaling in Immune system |
| reactome | R-HSA-1280215 | Cytokine Signaling in Immune system |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-449147 | Signaling by Interleukins |
| reactome | R-HSA-449147 | Signaling by Interleukins |
| reactome | R-HSA-451927 | Interleukin-2 family signaling |
| reactome | R-HSA-451927 | Interleukin-2 family signaling |
| reactome | R-HSA-512988 | Interleukin-3, Interleukin-5 and GM-CSF signaling |
| reactome | R-HSA-5673001 | RAF/MAP kinase cascade |
| reactome | R-HSA-5683057 | MAPK family signaling cascades |
| reactome | R-HSA-5684996 | MAPK1/MAPK3 signaling |
| reactome | R-HSA-6785807 | Interleukin-4 and Interleukin-13 signaling |
| reactome | R-HSA-8854691 | Interleukin-20 family signaling |
| reactome | R-HSA-8983432 | Interleukin-15 signaling |
| reactome | R-HSA-8983432 | Interleukin-15 signaling |
| reactome | R-HSA-8985947 | Interleukin-9 signaling |
| reactome | R-HSA-9020558 | Interleukin-2 signaling |
| reactome | R-HSA-9020958 | Interleukin-21 signaling |
| reactome | R-HSA-912526 | Interleukin receptor SHC signaling |
| wikipathways | WP205 | IL-7 Signaling Pathway |
| wikipathways | WP22 | IL-9 Signaling Pathway |
| wikipathways | WP2374 | Oncostatin M Signaling Pathway |
| wikipathways | WP3929 | Chemokine signaling pathway |
| wikipathways | WP3932 | Focal Adhesion-PI3K-Akt-mTOR-signaling pathway |
| wikipathways | WP395 | IL-4 Signaling Pathway |
| wikipathways | WP4172 | PI3K-Akt Signaling Pathway |
| wikipathways | WP4205 | MET in type 1 papillary renal cell carcinoma |
| wikipathways | WP49 | IL-2 Signaling Pathway |
| pid | cd40_pathway | CD40/CD40L signaling |
| pid | il2_1pathway | IL2-mediated signaling events |
| pid | il2_pi3kpathway | IL2 signaling events mediated by PI3K |
| pid | il2_stat5pathway | IL2 signaling events mediated by STAT5 |
| pid | il4_2pathway | IL4-mediated signaling events |
| pid | shp2_pathway | SHP2 signaling |
| pid | tcptp_pathway | Signaling events mediated by TCPTP |
| kegg | hsa04062 | Chemokine signaling pathway - Homo sapiens (human) |
| kegg | hsa04151 | PI3K-Akt signaling pathway - Homo sapiens (human) |
| kegg | hsa04217 | Necroptosis - Homo sapiens (human) |
| kegg | hsa04550 | Signaling pathways regulating pluripotency of stem cells - Homo sapiens (human) |
| kegg | hsa04630 | Jak-STAT signaling pathway - Homo sapiens (human) |
| kegg | hsa04658 | Th1 and Th2 cell differentiation - Homo sapiens (human) |
| kegg | hsa04659 | Th17 cell differentiation - Homo sapiens (human) |
| kegg | hsa05162 | Measles - Homo sapiens (human) |
| kegg | hsa05166 | HTLV-I infection - Homo sapiens (human) |
| kegg | hsa05169 | Epstein-Barr virus infection - Homo sapiens (human) |
| kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
| kegg | hsa05203 | Viral carcinogenesis - Homo sapiens (human) |
| kegg | hsa05223 | Non-small cell lung cancer - Homo sapiens (human) |
| kegg | hsa05340 | Primary immunodeficiency - Homo sapiens (human) |
| netpath | Pathway_IL-7 | IL-7 |
| netpath | Pathway_IL2 | IL2 |
| netpath | Pathway_IL4 | IL4 |
| netpath | Pathway_IL9 | IL9 |
| netpath | Pathway_KitReceptor | KitReceptor |
| netpath | Pathway_Leptin | Leptin |
| netpath | Pathway_TCR | TCR |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD782 | DC-45-A2 | 3 |
| iGMDRD885 | Compound 110 | 3 |
| iGMDRD52 | Rotenone | 3 |
| iGMDRD137 | Indisulam | 6 |
| iGMDRD932 | JAK inhibitor | 10 |
| iGMDRD353 | PD0325901 | 1 |
| iGMDRD23 | Gossypol | 3 |
| iGMDRD100 | Zebularine | 3 |
| iGMDRD577 | BIX01294 | 6 |
| iGMDRD780 | PP-30 | 3 |
| iGMDRD382 | CEP-701 | 1 |
| iGMDRD126 | Tipifarnib | 3 |
| iGMDRD48 | Dexamethasone | 3 |
| iGMDRD307 | Manumycin A | 3 |
| iGMDRD248 | BRD4354 | 3 |
| iGMDRD420 | Leucascandrolide A | 3 |
| iGMDRD280 | CYTOCHALASIN B | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in JAK3
CLASSFICATION
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