PPEF2

Chr 4

protein phosphatase with EF-hand domain 2

Also known as: PPP7CB

NCBI Gene: 5470 ENSG00000156194 UniProt: O14830 OMIM: 602256

The protein is a serine/threonine phosphatase with EF-hand calcium-binding motifs that is specifically expressed in photoreceptors and pineal gland, where it may dephosphorylate photoactivated rhodopsin and regulate phototransduction. Mutations cause autosomal recessive retinitis pigmentosa, resulting in progressive vision loss affecting the retina. The gene is not highly constrained against loss-of-function variants.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein, which is expressed specifically in photoreceptors and the pineal, has been suggested to play a role in the visual system. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.96

LOEUF

Multiple*

Mechanism· predicted