tyrosine kinase 2(TYK2) Homo sapiens 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, Jul 2008],catalytic activity:ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.,disease:Defects in TYK2 are the cause of protein-tyrosine kinase 2 deficiency (TYK2 deficiency) [MIM:611521], also called autosomal recessive hyper-IgE syndrome (HIES) with atypical mycobacteriosis. The syndrome consists of a primary immunodeficiency characterized by recurrent skin abscesses, pneumonia, and highly elevated serum IgE.,domain:The FERM domain mediates interaction with JAKMIP1.,function:Probably involved in intracellular signal transduction by being involved in the initiation of type I IFN signaling. Phosphorylates the interferon-alpha/beta receptor alpha chain.,online information:TYK2 mutation db,similarity:Belongs to the protein kinase superfamily. Tyr protein kinase family. JAK subfamily.,similarity:Contains 1 FERM domain.,similarity:Contains 1 protein kinase domain.,similarity:Contains 1 SH2 domain.,subunit:Interacts with JAKMIP1.,tissue specificity:Observed in all cell lines analyzed. Expressed in a variety of lymphoid and non-lymphoid cell lines.,
