PPP2R2B
Chr 5ADprotein phosphatase 2 regulatory subunit Bbeta
Also known as: B55BETA, PP2AB55BETA, PP2ABBETA, PP2APR55B, PP2APR55BETA, PR2AB55BETA, PR2ABBETA, PR2APR55BETA
PPP2R2B encodes a regulatory subunit of protein phosphatase 2A that modulates substrate selectivity and catalytic activity of this major serine/threonine phosphatase involved in cell growth control. Mutations cause spinocerebellar ataxia 12 (SCA12), characterized by progressive degeneration of the cerebellum and sometimes brainstem and spinal cord, resulting in poor coordination of speech and body movements. SCA12 follows autosomal dominant inheritance and is caused by CAG repeat expansions in the 5' untranslated region of the gene.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% 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
PPP2R2B · 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
External Resources
Links to major genomics databases and tools