Human Gene CASP2 (ENST00000310447.10) from GENCODE V44
Description: Homo sapiens caspase 2 (CASP2), transcript variant 1, mRNA. (from RefSeq NM_032982) RefSeq Summary (NM_032982): 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]. Gencode Transcript: ENST00000310447.10 Gencode Gene: ENSG00000106144.20 Transcript (Including UTRs) Position: hg38 chr7:143,288,351-143,307,696 Size: 19,346 Total Exon Count: 11 Strand: + Coding Region Position: hg38 chr7:143,288,456-143,305,071 Size: 16,616 Coding Exon Count: 11
ID:CASP2_HUMAN DESCRIPTION: RecName: Full=Caspase-2; Short=CASP-2; EC=3.4.22.55; AltName: Full=Neural precursor cell expressed developmentally down-regulated protein 2; Short=NEDD-2; AltName: Full=Protease ICH-1; Contains: RecName: Full=Caspase-2 subunit p18; Contains: RecName: Full=Caspase-2 subunit p13; Contains: RecName: Full=Caspase-2 subunit p12; Flags: Precursor; FUNCTION: Involved in the activation cascade of caspases responsible for apoptosis execution. Might function by either activating some proteins required for cell death or inactivating proteins necessary for cell survival. CATALYTIC ACTIVITY: Strict requirement for an Asp residue at P1, with 316-asp being essential for proteolytic activity and has a preferred cleavage sequence of Val-Asp-Val-Ala-Asp-|-. SUBUNIT: Heterotetramer that consists of two anti-parallel arranged heterodimers, each one formed by a p18 subunit and a p12 subunit. Interacts with LRDD. INTERACTION: P42575-1:CASP2; NbExp=2; IntAct=EBI-520342, EBI-520357; P78560:CRADD; NbExp=9; IntAct=EBI-520342, EBI-520375; P78527:PRKDC; NbExp=4; IntAct=EBI-520342, EBI-352053; 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. PTM: The mature protease can process its own propeptide, but not that of other caspases. SIMILARITY: Belongs to the peptidase C14A family. SIMILARITY: Contains 1 CARD domain. SEQUENCE CAUTION: Sequence=AAA58959.1; Type=Erroneous initiation; Sequence=AAO25653.1; Type=Erroneous initiation; Sequence=AAP22346.1; Type=Erroneous initiation; Sequence=AAP22349.1; Type=Erroneous initiation; Sequence=BAD92877.1; Type=Erroneous initiation; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/casp2/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P42575
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0004197 cysteine-type endopeptidase activity GO:0005515 protein binding GO:0008233 peptidase activity GO:0008234 cysteine-type peptidase activity GO:0016787 hydrolase activity GO:0019899 enzyme binding GO:0019904 protein domain specific binding GO:0042802 identical protein binding GO:0097153 cysteine-type endopeptidase activity involved in apoptotic process GO:0097200 cysteine-type endopeptidase activity involved in execution phase of apoptosis
Biological Process: GO:0001554 luteolysis GO:0003407 neural retina development GO:0006508 proteolysis GO:0006915 apoptotic process GO:0006977 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0007420 brain development GO:0007568 aging GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage GO:0016485 protein processing GO:0035234 ectopic germ cell programmed cell death GO:0042981 regulation of apoptotic process GO:0043065 positive regulation of apoptotic process GO:0043066 negative regulation of apoptotic process GO:0043525 positive regulation of neuron apoptotic process GO:0071260 cellular response to mechanical stimulus GO:0097190 apoptotic signaling pathway GO:0097192 extrinsic apoptotic signaling pathway in absence of ligand GO:0097194 execution phase of apoptosis GO:2001235 positive regulation of apoptotic signaling pathway
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