Gene: JAK3

Alternate names for this Gene: JAK-3|JAK3_HUMAN|JAKL|L-JAK|LJAK

Gene 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).

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.11

Description of this Gene: Janus kinase 3

Type of Gene: protein-coding

rs1057519770 in JAK3 gene and Acute Megakaryocytic Leukemias PMID 18397343 2008 Functional analysis of JAK3 mutations in transient myeloproliferative disorder and acute megakaryoblastic leukaemia accompanying Down syndrome.

PMID 16843266 2006 JAK3(A572V), JAK3(V722I), and JAK3(P132T) each transform Ba/F3 cells to factor-independent growth, and JAK3(A572V) confers features of megakaryoblastic leukemia in a murine model.

rs121913504 in JAK3 gene and Chronic myeloproliferative disorder PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

PMID 20385788 2010 CYT387, a novel JAK2 inhibitor, induces hematologic responses and normalizes inflammatory cytokines in murine myeloproliferative neoplasms.

PMID 20372971 2011 Preclinical characterization of atiprimod, a novel JAK2 AND JAK3 inhibitor.

PMID 22271575 2012 Genetic resistance to JAK2 enzymatic inhibitors is overcome by HSP90 inhibition.

rs1057519770 in JAK3 gene and Leukemoid Reaction PMID 18397343 2008 Functional analysis of JAK3 mutations in transient myeloproliferative disorder and acute megakaryoblastic leukaemia accompanying Down syndrome.

rs1057520020 in JAK3 gene and Severe Combined Immunodeficiency PMID 18559588 2008 Somatic mutations of JAK1 and JAK3 in acute leukemias and solid cancers.

rs137852624 in JAK3 gene and Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative PMID 9354668 1997 Structural and functional basis for JAK3-deficient severe combined immunodeficiency.

PMID 9753072 1998 Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment.

PMID 10982185 2000 Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism.

PMID 7659163 1995 Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID).

PMID 14615376 2004 Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation.

rs3212756 in JAK3 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.