PTPRE

Chr 10

protein tyrosine phosphatase receptor type E

Also known as: HPTPE, PTPE, R-PTP-EPSILON

NCBI Gene: 5791 ENSG00000132334 UniProt: P23469 OMIM: 600926

The protein encoded by PTPRE is a receptor-type protein tyrosine phosphatase that regulates cellular signaling pathways including RAS-related signal transduction, cytokine-induced STAT signaling, and activation of voltage-gated potassium channels. This gene is highly constrained against loss-of-function variants (pLI = 0.0008, LOEUF = 0.474), but associated diseases and inheritance patterns have not been established in the provided data.

OMIM ResearchSummary from RefSeq, UniProt

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. Several alternatively spliced transcript variants of this gene have been reported, at least two of which encode a receptor-type PTP that possesses a short extracellular domain, a single transmembrane region, and two tandem intracytoplasmic catalytic domains; another one encodes a PTP that contains a distinct hydrophilic N-terminus, and thus represents a nonreceptor-type isoform of this PTP. Studies of the similar gene in mice suggested the regulatory roles of this PTP in RAS related signal transduction pathways, cytokine-induced SATA signaling, as well as the activation of voltage-gated K+ channels. [provided by RefSeq, Oct 2015]

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)

—

P/LP submissions

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P/LP missense

0.47

LOEUF

Multiple*

Mechanism· predicted