Gene: PTPN3

Alternate names for this Gene: PTP-H1|PTPH1

Gene Summary: The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. P97, a cell cycle regulator involved in a variety of membrane related functions, has been shown to be a substrate of this PTP. This PTP was also found to interact with, and be regulated by adaptor protein 14-3-3 beta. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 9

Location in Chromosome : 9q31.3

Description of this Gene: protein tyrosine phosphatase non-receptor type 3

Type of Gene: protein-coding

rs146893001 in PTPN3 gene and Anemia, Sickle Cell PMID 28552477 2017 Genome-wide association study of erythrocyte density in sickle cell disease patients.

rs10816812 in PTPN3 gene and Glomerular Filtration Rate PMID 31015462 2019 Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

rs111960097 in PTPN3 gene and Serum albumin measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.