PTPN12 Chromosome 7

Protein tyrosine phosphatase non-receptor type 12
1 variant 1 Health Risk

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
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS121434623 Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
Sign Up to Analyze Your DNA Log In