CASP2
entrez
835
canonical
uniprot
P42575
canonical
ensembl
ENSG00000106144
resolver
ensp
ENSP00000312664
resolver
ensp
ENSP00000340030
resolver
ensp
ENSP00000481929
resolver
ensp
ENSP00000677077
resolver
enst
ENST00000350623
resolver
enst
ENST00000619992
resolver
genesymbol
CASP2
resolver
genesymbol_syn
ICH1
resolver
genesymbol_syn
NEDD2
resolver
hgnc
HGNC:1503
resolver
uniprot
A0A087WYM1
resolver
uniprot
A0A0S2Z3H1
resolver
uniprot
A8K5F9
resolver
uniprot
D3DXD6
resolver
uniprot
E9PDN0
resolver
uniprot
P42576
resolver
uniprot
Q59F21
resolver
uniprot
Q7KZL6
resolver
uniprot
Q86UJ3
resolver
uniprot
Q9BUP7
resolver
uniprot
Q9BZK9
resolver
uniprot
Q9BZL0
resolver
uniprot_entry
A0A087WYM1_HUMAN
resolver
uniprot_entry
A0A0S2Z3H1_HUMAN
resolver
uniprot_entry
CASP2_HUMAN
resolver
uniprot_sec
A8K5F9
resolver
uniprot_sec
D3DXD6
resolver
uniprot_sec
E9PDN0
resolver
uniprot_sec
P42576
resolver
uniprot_sec
Q59F21
resolver
uniprot_sec
Q7KZL6
resolver
uniprot_sec
Q86UJ3
resolver
uniprot_sec
Q9BUP7
resolver
uniprot_sec
Q9BZK9
resolver
uniprot_sec
Q9BZL0
resolver
amino_acid_sequence
MAAPSAGSWSTFQHKELMAADRGRRILGVCGMHPHHQETLKKNRVVLAKQLLLSELLEHLLEKDIITLEMRELIQAKVGSFSQNVELLNLLPKRGPQAFDAFCEALRETKQGHLEDMLLTTLSGLQHVLPPLSCDYDLSLPFPVCESCPLYKKLRLSTDTVEHSLDNKDGPVCLQVKPCTPEFYQTHFQLAYRLQSRPRGLALVLSNVHFTGEKELEFRSGGDVDHSTLVTLFKLLGYDVHVLCDQTAQEMQEKLQNFAQLPAHRVTDSCIVALLSHGVEGAIYGVDGKLLQLQEVFQLFDNANCPSLQNKPKMFFIQACRGDETDRGVDQQDGKNHAGSPGCEESDAGKEKLPKMRLPTRSDMICGYACLKGTAAMRNTKRGSWYIEALAQVFSERACDMHVADMLVKVNALIKDREGYAPGTEFHRCKEMSEYCSTLCRHLYLFPGHPPT
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly (MRT80) [MIM:620653]: 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. {ECO:0000269|PubMed:37880421}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.22.55
uniprot
proteins
function
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). {ECO:0000269|PubMed:11156409, ECO:0000269|PubMed:15073321, ECO:0000269|PubMed:8087842}.; FUNCTION: [Isoform 1]: Acts as a positive regulator of apoptosis. {ECO:0000269|PubMed:8087842}.; FUNCTION: [Isoform 2]: Acts as a negative regulator of apoptosis. {ECO:0000269|PubMed:8087842}.; FUNCTION: [Isoform 3]: May function as an endogenous apoptosis inhibitor that antagonizes caspase activation and cell death. {ECO:0000269|PubMed:11156409}.
uniprot
proteins
mass_dalton
50685
uniprot
proteins
mutagenesis
MUTAGEN 57; /note="L->F: Loss of interaction with CRADD."; /evidence="ECO:0000269|PubMed:8985253"; MUTAGEN 95; /note="G->R: Loss of interaction with CRADD."; /evidence="ECO:0000269|PubMed:8985253"; MUTAGEN 99; /note="F->A: Loss of interaction with CRADD."; /evidence="ECO:0000269|PubMed:8985253"; MUTAGEN 100; /note="D->A: No effect on interaction with CRADD. Loss of interaction with CRADD; when associated A-104."; /evidence="ECO:0000269|PubMed:8985253"; MUTAGEN 102; /note="F->A: Loss of interaction with CRADD."; /evidence="ECO:0000269|PubMed:8985253"; MUTAGEN 104; /note="E->A: No effect on interaction with CRADD. Loss of interaction with CRADD; when associated A-100."; /evidence="ECO:0000269|PubMed:8985253"; MUTAGEN 106; /note="L->A: Loss of interaction with CRADD."; /evidence="ECO:0000269|PubMed:8985253"; MUTAGEN 320; /note="C->S: Loss of function."; MUTAGEN 369; /note="A->T: Loss of function.
uniprot
proteins
post_translational_modification
PTM: The mature protease can process its own propeptide, but not that of other caspases. {ECO:0000269|PubMed:8654923}.
uniprot
proteins
protein_family
Peptidase C14A family
uniprot
proteins
pubmed
11156409
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
12920126
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15073321
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16652156
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
37880421
uniprot
proteins
pubmed
8087842
uniprot
proteins
pubmed
8654923
uniprot
proteins
pubmed
8985253
uniprot
proteins
pubmed
9044836
uniprot
proteins
pubmed
9560245
uniprot
proteins
sequence_length
452
uniprot
proteins