Gene Gene information from NCBI Gene database.
Entrez ID 835
Gene name Caspase 2
Gene symbol CASP2
Synonyms (NCBI Gene)
CASP-2ICH1MRT80NEDD-2NEDD2PPP1R57
Chromosome 7
Chromosome location 7q34
Summary 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
miRNA miRNA information provided by mirtarbase database.
1040
miRTarBase ID miRNA Experiments Reference
MIRT044168 hsa-miR-130b-3p CLASH 23622248
MIRT039414 hsa-miR-421 CLASH 23622248
MIRT038813 hsa-miR-93-3p CLASH 23622248
MIRT053392 hsa-miR-96-5p Microarray 23807165
MIRT437789 hsa-miR-708-5p Luciferase reporter assayqRT-PCRWestern blot 23568547
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
RUNX3 Activation 17956589
XPC Repression 22174370
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
45
GO ID Ontology Definition Evidence Reference
GO:0001554 Process Luteolysis IEA
GO:0003407 Process Neural retina development IEA
GO:0004197 Function Cysteine-type endopeptidase activity IBA
GO:0004197 Function Cysteine-type endopeptidase activity IDA 9044836, 10980123, 21726810
GO:0004197 Function Cysteine-type endopeptidase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600639 1503 ENSG00000106144
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P42575
Protein name Caspase-2 (CASP-2) (EC 3.4.22.55) (Neural precursor cell expressed developmentally down-regulated protein 2) (NEDD-2) (Protease ICH-1) [Cleaved into: Caspase-2 subunit p18; Caspase-2 subunit p13; Caspase-2 subunit p12]
Protein 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 ce
PDB 1PYO , 2P2C , 3R5J , 3R6G , 3R6L , 3R7B , 3R7N , 3R7S , 3RJM , 6GKF , 6GKG , 6S9K , 6SAD , 6Y8B , 6Y8D
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00619 CARD 37 121 Caspase recruitment domain Domain
PF00656 Peptidase_C14 200 445 Domain
Tissue specificity 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.
Sequence
Sequence length 452
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Apoptosis   NOD1/2 Signaling Pathway
NADE modulates death signalling
TP53 Regulates Transcription of Caspase Activators and Caspases
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly Pathogenic rs2486983740, rs2486983838, rs910498292, rs1801868524 RCV003448991
RCV003448992
RCV003448993
RCV003448994
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CASP2-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 10632337
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 25010987
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 31060401
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 27901073, 31362787, 31377428, 39396083 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 36129947 Stimulate
★☆☆☆☆
Found in Text Mining only
Amnesia Amnesia BEFREE 31399584
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 31399584
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 31399584
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 34576119 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 9764613 Associate
★☆☆☆☆
Found in Text Mining only