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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JAK3 is a validated target in atopic dermatitis, psoriasis and pruritus.
The interaction between IL-21 and its receptor can induce activation of Janus kinase (JAK)-1 and JAK3 and then activate signal transducers and activators of transcription (STAT) 1 and STAT3.
There are four known JAK enzymes: JAK1, JAK2, JAK3 and TYK2.
According to the companies, Baricitinib is a once-daily oral JAK inhibitor and are four known JAK enzymes: JAK1, JAK2, JAK3 and TYK2.
JAK family kinases including JAK1, JAK2, Tyk2, and JAK3 play vital roles in homeostasis and immune responses.
This laboratory-developed NGS test protocol is based on a well-validated research use-only kit that targets 54 genes, including all exons of 15 genes (BCOR, BCORL1, CDKN2A, CEBPA, CUX1, DNMT3A, ETV6, EZH2, IKZF1, KDM6A, PHF6, RAD21, RUNX1, STAG2, and ZRSR2) and hot spot exons/regions of 39 genes (ABL1, ASXL1, ATRX, BRAF, CALR, CBL, CBLB, CBLC, CSF3R, FBXW7, FLT3, GATA1, GATA2, GNAS, HRAS, IDH1, IDH2, JAK2, JAK3, KIT, KMT2A/MLL, KRAS, MPL, MYD88, NOTCH1, NPM1, NRAS, PDGFRA, PTEN, PTPN11, SETBP1, SF3B1, SMC1A, SMC3, SRSF2, TET2, TP53, U2AF1, and WT1).
EGFR mutations, anaplastic lymphoma kinase (ALK) fusions, and proto-oncogene tyro sine-protein kinase (ROS1) were detected in non-smokers and smokers, while tumor protein p53 (TP53), V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), proto-oncogene B-Raf (BRAF), Janus kinase 2 (JAK2), JAK3, and mismatch repair gene mutations were detected in smokers.
An oral Janus kinase (JAK) inhibitor, tofacitinib blocks JAK1, JAK3, and to a lesser extent JAK2.
Phosphorylation of EZH2 by JAK3 leads to dissociation of EZH2 from PRC2 complex, leading to a non-catalytic activity of EZH2 to promote cancer cell proliferation.
Blood, under the title, "EZH2 phosphorylation by JAK3 mediates a switch to non-canonical function in natural killer/T-cell lymphoma" by Junli Yan 1, Boheng Li 2, Baohong Lin 3, Pei Tsung Lee 1, Tae-Hoon Chung 1, Joy Tan 1, Chonglei Bi 1, Xue Ting Lee 1, Viknesvaran Selvarajan 4, Siok-Bian Ng 1,2,4, Henry Yang 1, Qiang Yu 5, Wee-Joo Chng 1,2,3
Loss of SHP1 enhances JAK3/STAT3 signaling and decreases proteosome degradation of JAK3 and NPM-ALK in ALK+ anaplastic large-cell lymphoma.