这个基因编码酪氨酸激酶的一个成员,更具体地说,是janus激酶(jaks)蛋白家族。该蛋白与I型和II型细胞因子受体的胞质结构域相关,并通过磷酸化受体亚单位释放细胞因子信号。它也是I型和III型干扰素信号通路的组成部分。因此,它可能在抗病毒免疫中发挥作用。该基因突变与高免疫球蛋白e综合征(hies)有关,hies是一种以血清免疫球蛋白e升高为特征的原发性免疫缺陷。
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]
基因名: | TYK2 |
别名: | JTK1,IMD35 |
基因ID: | 7297 |
Chromosome: (GRCh37) | 19 Start: 10461204 End: 10491248 Strand: |
信号通路: |