CASP2 Gene Summary [Human]
This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Caspases mediate cellular apoptosis through the proteolytic cleavage of specific protein substrates. The encoded protein may function in stress-induced cell death pathways, cell cycle maintenance, and the suppression of tumorigenesis. Increased expression of this gene may play a role in neurodegenerative disorders including Alzheimer's disease, Huntington's disease and temporal lobe epilepsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
Details
| Type | Protein Coding |
| Official Symbol | CASP2 |
| Official Name | caspase 2 [Source:HGNC Symbol;Acc:HGNC:1503] |
| Ensembl ID | ENSG00000106144 |
| Bio databases IDs | |
| Aliases | caspase 2, protein phosphatase 1, regulatory subunit 57 |
| Synonyms | caspase 2, ICH-1, MRT80, NEDD-2, PPP1R57 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CASP2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- catalytic domain
- peptidase
- nuclear localization sequence
- enzyme binding
- protein domain specific binding
- linker domain
- protein binding
- identical protein binding
- CASc
- Caspase recruitment domain
- cysteine endopeptidase
- serine phosphorylation site
- pro domain
- Death Domain Superfamily of protein-protein interaction domains
Pathways
Biological processes and signaling networks where the CASP2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- epithelial cancer
- liver cancer
- diffuse large B-cell lymphoma
- B-cell non-Hodgkin disease
- mature B-cell neoplasia
- hyperplasia
- breast carcinoma
- autosomal recessive intellectual developmental disorder type 80 with variant lissencephaly
- mucinous ovarian carcinoma
role in cell
- expression in
- apoptosis
- transmembrane potential
- proliferation
- activation in
- cell viability
- cell death
- response
- growth
- damage
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- microsomal fraction
- nuclear fraction
- mitochondrial fraction
- Nucleus
- Golgi Apparatus
- Endoplasmic Reticulum
- Mitochondria
- cytosol
- neurites
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CASP2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- germ cell programmed cell death
- apoptotic signaling pathway
- DNA damage response, signal transduction resulting in induction of apoptosis
- extrinsic apoptotic signaling pathway in absence of ligand
- response to DNA damage stimulus
- execution phase of apoptosis
- positive regulation of neuron apoptotic process
- luteolysis
- cellular response to mechanical stimulus
- DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest
- negative regulation of apoptotic process
- neural retina development
- apoptotic process
- positive regulation of apoptotic process
- protein processing
- activation of cysteine-type endopeptidase activity involved in apoptotic process
- positive regulation of apoptotic signaling pathway
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- cytosol
- nucleolus
Molecular Function
What the gene product does at the molecular level
- cysteine-type endopeptidase activity involved in apoptotic signaling pathway
- identical protein binding
- protein domain specific binding
- protein binding
- cysteine-type endopeptidase activity involved in execution phase of apoptosis
- cysteine-type endopeptidase activity
- enzyme binding