CASP2
Chr 7ARcaspase 2
Also known as: CASP-2, ICH1, MRT80, NEDD-2, NEDD2, PPP1R57
The protein is a cysteine-aspartic acid protease (caspase) that regulates apoptosis by forming the PIDDosome complex with PIDD1 and CRADD, which triggers cell death in response to DNA damage and other cellular stress. Biallelic mutations cause autosomal recessive intellectual developmental disorder with variant lissencephaly, affecting brain development and cognitive function. The gene is highly constrained against loss-of-function variants (LOEUF 0.658), indicating intolerance to protein-disrupting mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CASP2 · 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