PTPN12 Chromosome 7
Protein tyrosine phosphatase non-receptor type 12
Upload your DNA to see your personal genotypes for variants in PTPN12.
What This Gene Does
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]
Gene Info
Gene Group
Protein tyrosine phosphatases non-receptor type
Locus Type
gene with protein product
Location
7q11.23
Ensembl
ENSG00000127947
Associated Conditions (1)
Carcinoma of colon
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121434623 | Health Risk | Pathogenic | Carcinoma of colon, Carcinoma of colon |