PPP2CA

Chr 5

protein phosphatase 2 catalytic subunit alpha

Also known as: HJS3, NEDLBA, PP2Ac, PP2CA, PP2Calpha, RP-C

NCBI Gene: 5515 ENSG00000113575 UniProt: P67775

The protein phosphatase 2A catalytic subunit alpha isoform dephosphorylates serine and threonine residues to negatively regulate cell growth and division as part of a heteromeric phosphatase complex. Loss-of-function mutations cause Houge-Janssens syndrome 3, inherited in an autosomal dominant pattern. The gene is highly intolerant to loss-of-function variation, indicating haploinsufficiency as the likely pathogenic mechanism.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes the phosphatase 2A catalytic subunit. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. This gene encodes an alpha isoform of the catalytic subunit. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtHouge-Janssens syndrome 3

Clinical highlights

Gene-disease validity (ClinGen)

complex neurodevelopmental disorder · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.26

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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