PTPRA

Chr 20

protein tyrosine phosphatase receptor type A

Also known as: HEPTP, HLPR, HPTPA, HPTPalpha, LRP, PTPA, PTPRL2, R-PTP-alpha

NCBI Gene: 5786 ENSG00000132670 UniProt: P18433 OMIM: 176884

The protein tyrosine phosphatase receptor type A (PTPRA) is a transmembrane enzyme that dephosphorylates and activates Src family tyrosine kinases, playing a critical role in integrin-mediated focal adhesion formation, cell adhesion, and proliferation. Mutations in this highly constrained gene (pLI=1.0, LOEUF=0.19) cause autosomal recessive developmental and epileptic encephalopathy with microcephaly, typically presenting in early infancy. The condition primarily affects the central nervous system with severe intellectual disability, seizures, and brain malformations.

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. This PTP contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. This PTP has been shown to dephosphorylate and activate Src family tyrosine kinases, and is implicated in the regulation of integrin signaling, cell adhesion and proliferation. Three alternatively spliced variants of this gene, which encode two distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]

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

0.19

LOEUF· LoF intol.

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Mechanism