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].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
NameJanus kinase 3
OMIM IDMIM:600173
Ensembl IDEnsembl:ENSG00000105639
HGNC IDHGNC:HGNC:6193
PHARMGKB IDPA29990
Map Location19p13.11

GO terms in JAK3


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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
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Gene expression in normal tissue: JAK3

16 tissues mixtureadiposeadrenalbrainbreastcolonheartkidneyliverlunglymph nodeovaryprostateskeletal muscletestesthyroidwhite blood cells

Gene-model tissue-cancer distribution: Bubble Plot

BOWEtissue: BOWE cancer: BOWEL model num: 0BOWELtissue: BOWEL cancer: undefined model num: 3BLOOtissue: BLOO cancer: BLOOD model num: 0BLOODtissue: BLOOD cancer: undefined model num: 15BLOODtissue: BLOOD cancer: Leukemia (LEUK) model num: 6undefinetissue: undefine cancer: undefined model num: 0undefinedtissue: undefined cancer: PANCAN model num: 29undefinedtissue: undefined cancer: Lymphoma model num: 4UTERUtissue: UTERU cancer: UTERUS model num: 0UTERUStissue: UTERUS cancer: Endometrial Carcinoma (UCEC) model num: 3

Gene-drug pathway distribution

undefined12Biosynthesis of secondary metabolites2Neuroactive ligand-receptor interaction1ERK MAPK signaling1Other, kinases1

Pathways in JAK3


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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
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD782 DC-45-A2 3
iGMDRD885 Compound 110 3
iGMDRD52 Rotenone 3
iGMDRD137 Indisulam 6
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in JAK3

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
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