PPP2R2D
Chr 10protein phosphatase 2 regulatory subunit Bdelta
Also known as: B55D, B55delta, MDS026
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PPP2R2D · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools