PPP1R2C
Chr XPPP1R2 family member C
Also known as: I-4, PPP1R2P9
The protein functions as a protein phosphatase inhibitor, specifically inhibiting the catalytic subunit of PP1 and weakly inhibiting myosin-associated phosphatases in intracellular signal transduction. Mutations in this gene have been associated with neurodevelopmental disorders, though the specific phenotypic spectrum and inheritance pattern require further clinical characterization. Additional clinical and genetic data are needed to fully define the disease associations for this gene.
Population Genetics & Constraint
Constraint data not available from gnomAD.
The highest-scoring mechanism for this gene is dominant-negative.
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
PPP1R2C · 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