PTPN13 Chromosome 4

Protein tyrosine phosphatase non-receptor type 13
2 variants 2 Health Risk

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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 is a large intracellular protein. It has a catalytic PTP domain at its C-terminus and two major structural domains: a region with five PDZ domains and a FERM domain that binds to plasma membrane and cytoskeletal elements. This PTP was found to interact with, and dephosphorylate, Fas receptor and IkappaBalpha through the PDZ domains. This suggests it has a role in Fas mediated programmed cell death. This PTP was also shown to interact with GTPase-activating protein, and thus may function as a regulator of Rho signaling pathways. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
"Protein tyrosine phosphatases non-receptor type|PDZ domain containing|FERM domain containing"
Locus Type
gene with protein product
Location
4q21.3
Ensembl
ENSG00000163629
Associated Conditions (5)
PTPN13-related disorder
Clear cell carcinoma of kidney
Gastric cancer
Hepatocellular carcinoma
Ovarian serous cystadenocarcinoma
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS200187346 Health Risk Conflicting classifications of pathogenicity PTPN13-related disorder, PTPN13-related disorder
RS61750815 Health Risk Conflicting classifications of pathogenicity Clear cell carcinoma of kidney, PTPN13-related disorder, Gastric cancer
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