Entrez gene ID | | 7297 |
Official gene symbol | | TYK2 |
Full name | | tyrosine kinase 2 |
Aliases | | ,JTK1, |
Gene summary | | This gene encodes a member of the tyrosine kinase and, more specifically, the Janus kinases (JAKs) protein families. This protein associates with the cytoplasmic domain of type I and type II cytokine receptors and promulgate cytokine signals by phosphorylating receptor subunits. It is also component of both the type I and type III interferon signaling pathways. As such, it may play a role in anti-viral immunity. A mutation in this gene has been associated with hyperimmunoglobulin E syndrome (HIES) - a primary immunodeficiency characterized by elevated serum immunoglobulin E. [provided by RefSeq] |
Location | | Chromosome: 19 Locus: 19p13.2 |
Gene position | | 10491248 - 10461204 Map Viewer |
Gene orientation | | minus |
Gene size | | 30045 bp |
Gene sequence |
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OMIM ID | | 176941 |
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