SH2B3

This gene encodes a member of the SH2B adaptor family of proteins, which are involved in a range of signaling activities by growth factor and cytokine receptors. The encoded protein is a key negative regulator of cytokine signaling and plays a critical role in hematopoiesis. Mutations in this gene have been associated with susceptibility to celiac disease type 13 and susceptibility to insulin-dependent diabetes mellitus. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]

本基因编码SH2B适配蛋白家族的一员，该家族蛋白参与多种生长因子和细胞因子受体的信号传导活动。编码的蛋白是细胞因子信号传导的关键负调节因子，并在造血过程中发挥重要作用。该基因突变与13型乳糜泻的易感性和胰岛素依赖型糖尿病的易感性相关。对于该基因，已发现存在不同剪接转录本变体，编码不同的同源异构体。[由RefSeq提供，2014年4月]