PTPRO

Chr 12

protein tyrosine phosphatase receptor type O

Also known as: GLEPP1, NPHS6, PTP-OC, PTP-U2, PTPROT, PTPU2, R-PTP-O

NCBI Gene: 5800 ENSG00000151490 UniProt: Q92729

This gene encodes a receptor-type protein tyrosine phosphatase that dephosphorylates CTNNB1 and regulates cell adhesion, proliferation, and epithelial integrity. Biallelic mutations cause autosomal recessive nephrotic syndrome type 6, affecting kidney function. The gene is highly constrained against loss-of-function variants (LOEUF 0.474), suggesting intolerance to protein disruption.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the R3 subtype family of receptor-type protein tyrosine phosphatases. These proteins are localized to the apical surface of polarized cells and may have tissue-specific functions through activation of Src family kinases. This gene contains two distinct promoters, and alternatively spliced transcript variants encoding multiple isoforms have been observed. The encoded proteins may have multiple isoform-specific and tissue-specific functions, including the regulation of osteoclast production and activity, inhibition of cell proliferation and facilitation of apoptosis. This gene is a candidate tumor suppressor, and decreased expression of this gene has been observed in several types of cancer. [provided by RefSeq, May 2011]

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

—

P/LP missense

0.47

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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