PPP2R2D

Chr 10

protein phosphatase 2 regulatory subunit Bdelta

Also known as: B55D, B55delta, MDS026

NCBI Gene: 55844 ENSG00000175470 UniProt: Q66LE6 OMIM: 613992

The PPP2R2D protein functions as a substrate-recognition subunit of protein phosphatase 2A (PP2A), controlling mitosis entry and exit and mediating chromosome clustering during late mitosis through dephosphorylation of target proteins. Mutations cause autosomal dominant developmental and epileptic encephalopathy with early infantile onset, featuring intellectual disability, seizures, and developmental delays. This gene is highly constrained against loss-of-function variants (pLI 0.92, LOEUF 0.38), indicating that haploinsufficiency is likely not tolerated in the general population.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable enzyme-substrate adaptor activity and protein phosphatase regulator activity. Predicted to be involved in exit from mitosis and regulation of chromosome segregation. Predicted to be located in cytoplasm. Predicted to be part of protein phosphatase type 2A complex. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

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

0.38

LOEUF

LOF

Mechanism· predicted