PTPN2

Chr 18

protein tyrosine phosphatase non-receptor type 2

Also known as: PTN2, PTPT, TC-PTP, TC45, TC48, TCELLPTP, TCPTP

NCBI Gene: 5771 ENSG00000175354 UniProt: P17706 OMIM: 176887

This protein is a non-receptor tyrosine phosphatase that dephosphorylates multiple receptor and non-receptor protein tyrosine kinases, negatively regulating signaling pathways involved in immune system development, inflammatory responses, cell proliferation, and glucose homeostasis. Mutations cause autosomal recessive early-onset inflammatory bowel disease and T-cell immunodeficiency, typically presenting in infancy or early childhood. The gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.18), indicating intolerance to protein-truncating mutations.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. Epidermal growth factor receptor and the adaptor protein Shc were reported to be substrates of this PTP, which suggested the roles in growth factor mediated cell signaling. Multiple alternatively spliced transcript variants encoding different isoforms have been found. Two highly related but distinctly processed pseudogenes that localize to chromosomes 1 and 13, respectively, have been reported. [provided by RefSeq, May 2011]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.18

LOEUF· LoF intol.

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Mechanism