CASP2

Protein identityUniProt · HPA

UniProt accession

P42575

Gene

CASP2

Ensembl

ENSG00000106144

Chromosome

7

Canonical length

452 aa

Protein class

Cancer-related genes, Enzymes, Plasma proteins, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Centrosome,Basal body,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

452 residues, UniProt reviewed canonical sequence.

>P42575|CASP2
     1  MAAPSAGSWS TFQHKELMAA DRGRRILGVC GMHPHHQETL KKNRVVLAKQ LLLSELLEHL
    61  LEKDIITLEM RELIQAKVGS FSQNVELLNL LPKRGPQAFD AFCEALRETK QGHLEDMLLT
   121  TLSGLQHVLP PLSCDYDLSL PFPVCESCPL YKKLRLSTDT VEHSLDNKDG PVCLQVKPCT
   181  PEFYQTHFQL AYRLQSRPRG LALVLSNVHF TGEKELEFRS GGDVDHSTLV TLFKLLGYDV
   241  HVLCDQTAQE MQEKLQNFAQ LPAHRVTDSC IVALLSHGVE GAIYGVDGKL LQLQEVFQLF
   301  DNANCPSLQN KPKMFFIQAC RGDETDRGVD QQDGKNHAGS PGCEESDAGK EKLPKMRLPT
   361  RSDMICGYAC LKGTAAMRNT KRGSWYIEAL AQVFSERACD MHVADMLVKV NALIKDREGY
   421  APGTEFHRCK EMSEYCSTLC RHLYLFPGHP PT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CASP2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.36

Highest tissue expression

38 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CASP2.

Disease | AllUniProt

Conditions CASP2 is implicated in, by any mechanism.

• Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly (MRT80) MIM:620653

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 88 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Inborn genetic diseases
• Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.66

gnomAD pLI

0

gnomAD missense Z

0.5

DepMap mean gene effect

0.26

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• apoptotic process
• apoptotic signaling pathway
• cellular response to mechanical stimulus
• DNA damage response
• DNA damage response, signal transduction by p53 class mediator
• ectopic germ cell programmed cell death
• execution phase of apoptosis
• extrinsic apoptotic signaling pathway in absence of ligand
• intrinsic apoptotic signaling pathway in response to DNA damage
• luteolysis
• negative regulation of apoptotic process
• neural retina development
• positive regulation of apoptotic process
• positive regulation of apoptotic signaling pathway
• positive regulation of neuron apoptotic process
• protein processing

Molecular functions

• cysteine-type endopeptidase activity
• enzyme binding
• identical protein binding
• protein domain specific binding

Cellular components

• cytoplasm
• cytosol
• endopeptidase complex
• nucleolus
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Peptidase C14, p20 domain
• CARD domain
• Peptidase C14, caspase non-catalytic subunit p10
• Peptidase C14 family
• Death-like domain superfamily
• Peptidase C14, caspase domain
• Peptidase C14A, caspase catalytic domain
• Peptidase family C14A, His active site
• Caspase-like domain superfamily
• Peptidase family C14A, cysteine active site
• Caspase recruitment domain
• Caspase domain
• Caspase-2, CARD domain

KeywordsUniProt

• Acetylation
• Apoptosis
• Hydrolase
• Intellectual disability
• Lissencephaly
• Phosphoprotein
• Protease
• Thiol protease
• Zymogen

InteractionsUniProt · HPA

Protein binding partners of CASP2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• NOL3
• MZB1
• CRADD