JAK3, Official Symbol JAK3provided by HGNC Official Full Name Janus kinase 3provided by HGNC Primary source HGNC:HGNC:6193 See related Ensembl:ENSG00000105639 MIM:600173; AllianceGenome:HGNC:6193 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as JAKL; LJAK; JAK-3; L-JAK; JAK3_HUMAN 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 See more Orthologs mouse all