基因名称：STAT3 （signal transducer and activator of transcription 3）
别名： ADMIO,APRF,HIES
基因ID：6774
Chromosome(GRCh37) ：17 Start: 40465342 End: 40540586 Strand: -1
信号通路： 细胞增殖
炎症相关
侵袭和转移
凋亡抑制
靶向药：
化疗药：
简介：这个基因编码的蛋白质是stat蛋白质家族的成员。作为对细胞因子和生长因子的反应，stat家族成员被受体相关激酶磷酸化，然后形成同种或异二聚体，转移到细胞核，在那里它们作为转录激活剂。该蛋白通过磷酸化激活，以响应各种细胞因子和生长因子，包括IFN、EGF、IL5、IL6、HGF、LIF和BMP2。这种蛋白在细胞刺激下调节多种基因的表达，因此在许多细胞过程中起着关键作用，如细胞生长和凋亡。小的gtpase rac1已被证明能结合并调节这种蛋白的活性。PIAS3蛋白是这种蛋白的一种特殊抑制剂。该基因突变与婴儿发病的多系统自身免疫性疾病和高免疫球蛋白E综合征有关。选择性剪接导致编码不同亚型的多个转录变体。The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated through phosphorylation in response to various cytokines and growth factors including IFNs, EGF, IL5, IL6, HGF, LIF and BMP2. This protein mediates the expression of a variety of genes in response to cell stimuli, and thus plays a key role in many cellular processes such as cell growth and apoptosis. The small GTPase Rac1 has been shown to bind and regulate the activity of this protein. PIAS3 protein is a specific inhibitor of this protein. Mutations in this gene are associated with infantile-onset multisystem autoimmune disease and hyper-immunoglobulin E syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.
STAT3突变与药物：
SH2 DOMAIN MUTATION
药物：
Ziv-阿柏西普
疾病：
T细胞大颗粒淋巴细胞白血病
