基因名称：PTPN12 （protein tyrosine phosphatase, non-receptor type 12）
别名： PTP-PEST,PTPG1
基因ID：5782
Chromosome(GRCh37) ：7 Start: 77166592 End: 77269388 Strand: 1
信号通路：
靶向药： 克唑替尼
舒尼替尼
化疗药：
简介：该基因编码的蛋白是蛋白酪氨酸磷酸酶（PTP）家族的成员。PTP是调节多种细胞过程的信号分子，包括细胞生长、分化、有丝分裂周期和致癌转化。这个ptp包含一个c-末端害虫基序，作为一个蛋白质-蛋白质相互作用域，可以调节蛋白质的细胞内半衰期。这种PTP被发现与癌基因c-abl的产物结合并去磷酸化，因此可能在肿瘤发生中起作用。这种PTP还显示与细胞骨架结构和细胞粘附相关的各种产物，如p130（cas）、cakbeta/ptk2b、pstpip1和paxillin相互作用和去磷酸化。这表明它在控制细胞形状和流动性方面具有调节作用。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 protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains a C-terminal PEST motif, which serves as a protein-protein interaction domain, and may regulate protein intracellular half-life. This PTP was found to bind and dephosphorylate the product of the oncogene c-ABL and thus may play a role in oncogenesis. This PTP was also shown to interact with, and dephosphorylate, various products related to cytoskeletal structure and cell adhesion, such as p130 (Cas), CAKbeta/PTK2B, PSTPIP1, and paxillin. This suggests it has a regulatory role in controlling cell shape and mobility. Alternative splicing results in multiple transcript variants encoding distinct isoforms.
PTPN12突变与药物：
LOSS-OF-FUNCTION
药物：
克唑替尼
舒尼替尼
疾病：
三受体阴性乳腺癌
