菜单 基因医生

该基因编码的蛋白是蛋白酪氨酸磷酸酶(PTP)家族的一员ptp家族成员具有高度保守的催化基序,这对催化活性至关重要。众所周知,PTPs是调节细胞生长、分化、有丝分裂周期和癌基因转化等多种细胞过程的信号分子表皮生长因子受体和衔接蛋白shc是ptp的底物,提示其在生长因子介导的细胞信号转导中的作用。已发现编码不同亚型的多个选择性剪接转录变体两个高度相关但明显加工的假基因,分别定位于1号和13号染色体,已被报道。[由RefSeq提供,2011年5月]
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. Epidermal growth factor receptor and the adaptor protein Shc were reported to be substrates of this PTP, which suggested the roles in growth factor mediated cell signaling. Multiple alternatively spliced transcript variants encoding different isoforms have been found. Two highly related but distinctly processed pseudogenes that localize to chromosomes 1 and 13, respectively, have been reported. [provided by RefSeq, May 2011]

基因名:PTPN2
别名:PTN2,PTPT,TCPTP,TC-PTP,TCELLPTP
基因ID:5771
Chromosome:
(GRCh37)
18 Start: 12785477 End: 12884337 Strand: 
信号通路:  
PTPN2 基因突变与药物