PPP6R2
Chr 22protein phosphatase 6 regulatory subunit 2
Also known as: KIAA0685, PP6R2, SAP190, SAPS2
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is gain-of-function.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PPP6R2 · 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 →No open access results found
External Resources
Links to major genomics databases and tools