Entrez gene ID | | 3718 |
Official gene symbol | | JAK3 |
Full name | | Janus kinase 3 |
Aliases | | ,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). [provided by RefSeq] |
Location | | Chromosome: 19 Locus: 19p13.1 |
Gene position | | 17958841 - 17935591 Map Viewer |
Gene orientation | | minus |
Gene size | | 23251 bp |
Gene sequence |
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OMIM ID | | 600173 |