1. Gene
  2. PTPN12 - protein tyrosine phosphatase non-receptor type 12 Gene

PTPN12 - protein tyrosine phosphatase non-receptor type 12 Gene

中文名称:12 型蛋白酪氨酸磷酸酶非受体

种属: Homo sapiens

同用名: PTPG1; PTP-PEST

基因 ID: 5782 | 基因类型: protein coding

关于 PTPN12

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:77,537,295-77,640,069 (from NCBI)

This gene has 16 transcripts (splice variants), 139 orthologues, 35 paralogues and is associated with 1 phenotype. Ubiquitous expression in lung (RPKM 36.1), placenta (RPKM 29.5) and 25 other tissues.

功能概要

该基因编码的蛋白质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。该 PTP 包含一个 C 端 PEST 基序,作为蛋白质-蛋白质相互作用结构域,可以调节蛋白质的细胞内半衰期。发现该 PTP 可结合致癌基因 c-ABL 的产物并使其去磷酸化,因此可能在肿瘤发生中发挥作用。该 PTP 还显示与细胞骨架结构和细胞粘附相关的各种产物相互作用并去磷酸化,例如 p130 (Cas) 、CAKbeta/PTK2B、PSTPIP1 和桩蛋白。这表明它在控制细胞形状和流动性方面具有调节作用。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2008 年 10 月]

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. [provided by RefSeq, Oct 2008]

PTPN12 基因产物(3)

mRNA Protein Name
NM_001131008.2 NP_001124480.1 tyrosine-protein phosphatase non-receptor type 12 isoform 2
NM_001131009.2 NP_001124481.1 tyrosine-protein phosphatase non-receptor type 12 isoform 3
NM_002835.4 NP_002826.3 tyrosine-protein phosphatase non-receptor type 12 isoform 1

PTPN12 蛋白结构

Y_phosphatase

Y_phosphatase: Protein-tyrosine phosphatase (58 - 291)

  • 0
  • 200
  • 400
  • 600
  • 780 a.a.
蛋白主名 其他名称

tyrosine-protein phosphatase non-receptor type 12

protein-tyrosine phosphatase G1

重组 PTPN12 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76557 PTPN12 Protein, Human Q05209 (N-G&P, M1-Q355) ≥95%
HY-P76558 PTPN12 Protein, Human (sf9, His-GST) Q05209 (M1-Q355) ≥95%

关联疾病

疾病名称 别名
Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne

Papa Syndrome

Fra

Familial Recurrent Arthritis

Pyogenic Arthritis, Pyoderma Gangrenosum And Acne

PAPAS

Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome

Pyogenic Arthritis, Pyoderma Gangrenosum, And Severe Cystic Acne

Pyogenic Sterile Arthritis, Pyoderma Gangrenosum And Acne

Leiomyomatosis
Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Canis familiaris PTPN12 VGNC VGNC:45169
Macaca mulatta PTPN12 VGNC VGNC:76598
Mus musculus PTPN12 MGD MGI:104673
Bos taurus PTPN12 VGNC VGNC:33531
Felis catus PTPN12 VGNC VGNC:69159
Rattus norvegicus PTPN12 RGD RGD:620894
Others PTPN12 NCBI