Gene: PTPN12

Alternate names for this Gene: PTP-PEST|PTPG1

Gene Summary: 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.

Gene is located in Chromosome: 7

Location in Chromosome : 7q11.23

Description of this Gene: protein tyrosine phosphatase non-receptor type 12

Type of Gene: protein-coding

rs112029703 in PTPN12 gene and Creatinine measurement, serum (procedure) PMID 28452372 2017 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.

rs112029703 in PTPN12 gene and Glomerular Filtration Rate PMID 28452372 2017 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.