JAK3

JAK3

A gene on chromosome 19p13.1 that encodes a member of the Janus kinase (JAK) family of tyrosine kinases, which are involved in cytokine-receptor-mediated intracellular signal transduction. JAK3 is primarily expressed in immune cells and transduces a signal in response to activation via tyrosine phosphorylation by interleukin receptors.

Molecular pathology
JAK3 mutations are linked to autosomal severe combined immunodeficiency disease (SCID).
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This limited panel would suffice to classify the SCID into T-, B+, NK+/-, or T- B- NK+/- types, [gamma] chain deficiency is the only T- B+ NK- SCID type [Figure 1] that is inherited in an X-linked manner, while others such as JAK3, IL7R[alpha], CD45, and Coronin-1 A follow the autosomal recessive trait.
Additional mutations were identified in the v-akt murine thymoma viral oncogene homolog 1 (AKT1) (n = 1), adenomatous polyposis coli (APC) (n = 5), JAK3 (n = 1), met proto-oncogene (MET) (n = 2), phosphatidylinositol-4, 5-bisphosphate 3-kinase (PIK3CA)(n = 1), retinoblastoma 1 (RB1)(n = 2), and serine/threonine kinase 11 (STK11)(n = 1) genes.
OncoMap Genes and Mutations (a) Gene Mutations ABL1 16 AKT1 1 AKT2 2 APC 13 BRAF 50 CDK4 1 CDKN2A 11 CSF1R 7 CTNNB1 33 EGFR 51 ERBB2 8 FGFR1 2 FGFR2 6 FGFR3 8 FLT3 9 GNA11 2 GNAQ 3 GNAS 3 HRAS 16 IDH1 3 IDH2 2 JAK2 1 JAK3 3 KIT 27 KRAS 24 MAP2K1 7 MET 6 MLH1 1 MYC 6 NPM1 3 NRAS 22 PDGFRA 20 PIK3CA 23 PIK3R1 14 PTEN 15 RB1 11 RET 14 SRC 1 STK11 12 TP53 7 VHL 7 (a) OncoMap 4 consists of 439 assays designed to interrogate 471 unique mutations in 41 cancer genes.
There are four known JAK enzymes: JAK1, JAK2, JAK3 and TYK2.
It appears that activation of JAK3, EGFR, Src kinase, and MAP kinase signaling cascades may underlie these effects (Eum et al.
In addition, this invention relates to methods of using the structure coordinates to screen for and design compounds, including inhibitory compounds, that bind to JAK3 protein or JAK3 protein homologues, or complexes thereof.
an innovator in the discovery and development of novel small molecule therapeutics, has announced that it has received a milestone payment from Wyeth Pharmaceuticals, a division of Wyeth (NYSE:WYE), for progress made in identifying a systemically administered inhibitor of JAK3 kinase.
Inhibition of JAK3 and STAT6 tyrosine phosphorylation by the immunosuppressive drug leflunomide leads to a block in IgG1 production.
JAK2 is a member of the Janus family of mammalian tyrosine kinases, which is comprised of four cytoplasmic tyrosine kinases : JAK1, JAK2, JAK3 and TYK2 (Imada and Leonard, 2000; Zhu et al.
Overexpression of Trx occurs in certain leukemias wherein cells proliferate without cytokine stimulus, a phenomenon attributed to constitutive JAK3 activation.
SCID is caused by mutations in the gene responsible for producing the JAK3 enzyme.
Pfizer has developed Xeljanz (tofacitinib;formerly known as tasocitinib), an oral, small-molecule inhibitor of JAK3 kinase for the treatment of RA, psoriasis, psoriatic arthritis, ankylosing spondylitis, Crohn's disease, ulcerative colitis, transplant rejection, and dry eye syndrome.