PPP6R2

Chr 22

protein phosphatase 6 regulatory subunit 2

Also known as: KIAA0685, PP6R2, SAP190, SAPS2

NCBI Gene: 9701 ENSG00000100239 UniProt: O75170 OMIM: 610877

The protein serves as a regulatory subunit of protein phosphatase 6, functioning as a scaffolding component and mediating dephosphorylation of targets including the T-loop of Aurora A kinase, which is essential for proper spindle formation and chromosome alignment during mitosis. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly, affecting neurological development and seizure control in early childhood. This gene shows significant constraint against loss-of-function variants (LOEUF 0.411), indicating that such mutations are typically not tolerated in the general population.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a regulatory protein for the protein phosphatase-6 catalytic subunit. Together, these proteins act as a significant T-loop phosphatase for Aurora A, an essential mitotic kinase. Loss of function of either the regulatory or catalytic subunit of protein phosphatase-6 interferes with spindle formation and chromosome alignment. [provided by RefSeq, May 2017]

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

0.41

LOEUF

GOF

Mechanism· predicted