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)
TYK2 (Tyrosine kinase 2) plays an important role in cell signaling by multiple cytokines via the JAK-ST at pathway. Tyk2 interacts with type I IFN, p40-sharing IL-12 and IL-23, IL-6, and IL-10 family receptors and helps in immunomodulation. On binding, TYK2 is phosphorylated and co-activated with JAK1 and/or JAK2. It has been suggested th at TYK2 is required for the surface expression of human IL-10R as well as human type I IFNR. TYK2 is also involved in the differentiation of immune cells, such as B cells, T helper cells and natural killer cells. Abnormal TYK2 expression is implicated in the etiology of several auto-immune diseases such as multiple sclerosis, rheumatoid arthritis and systemic lupus erythematosus. Studies show th at TYK2 rs34536443 polymorphism is associated with endometriosis and related infertility.
