CASP2

Domain

The CARD domain mediates a direct interaction with CRADD.

Function

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).

Isoform 1

Acts as a positive regulator of apoptosis.

Isoform 2

Acts as a negative regulator of apoptosis.

Isoform 3

May function as an endogenous apoptosis inhibitor that antagonizes caspase activation and cell death.

Involvement in disease

Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly

MRT80

An autosomal recessive disorder characterized by global developmental delay, mildly to moderately impaired intellectual development, attention deficit-hyperactivity disorder, hypotonia, seizure, poor social skills, and autistic traits. Brain imaging shows fronto-temporal lissencephaly and pachygyria.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

The mature protease can process its own propeptide, but not that of other caspases.

Sequence similarities

Belongs to the peptidase C14A family.

Tissue specificity

Expressed at higher levels in the embryonic lung, liver and kidney than in the heart and brain. In adults, higher level expression is seen in the placenta, lung, kidney, and pancreas than in the heart, brain, liver and skeletal muscle.

Alternative names

• ICH1
• NEDD2
• CASP2
• ICH1
• NEDD2
• Caspase-2
• CASP-2
• Neural precursor cell expressed developmentally down-regulated protein 2
• Protease ICH-1
• NEDD-2

Database links

• entrezGene:835
• omim:600639
• swissprot:P42575

Target type

Proteins

Primary research area

Metabolism

Molecular weight

50685Da