CASP2

Chr 7q34

caspase 2

Aliases:: ICH1, PPP1R57, MGC2181
MANE:: ENST00000310447.10

OMIM: 600639 ↗NCBI: 835 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

CASP2 · P42575

v62025-08-01

Predicted Aligned Error matrix for CASP2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

78.4/ 100

Confident

452 residues

Confidence breakdown

Very high(≥ 90)52%
Confident(70–90)24%
Low(50–70)4%
Very low(< 50)21%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly
0.72
hereditary disease
0.49
neoplasm
0.11
metabolic dysfunction-associated steatohepatitis
0.11
cirrhosis of liver
0.10
acute myeloid leukemia
0.10
Huntington disease
0.10
Cirrhosis
0.09
neuroblastoma
0.09
cancer
0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Caspase-2

Is a regulator of the cascade of caspases responsible for apoptosis execution (PubMed:11156409, PubMed:15073321, PubMed:8087842). Might function by either activating some proteins required for cell death or inactivating proteins necessary for cell survival (PubMed:15073321). Associates with PIDD1 and CRADD to form the PIDDosome, a complex that activates CASP2 and triggers apoptosis in response to genotoxic stress (PubMed:15073321)