Full name: Janus kinase 3

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: JAK-3; JAK3_HUMAN; JAKL; L-JAK; LJAK

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]

Expression: Biased expression in appendix (RPKM 19.5), lymph node (RPKM 18.2) and 12 other tissues

Gene size: 23201bp

Exon count: 24