Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
835
Gene name Gene Name - the full gene name approved by the HGNC.
Caspase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CASP2
Synonyms (NCBI Gene) Gene synonyms aliases
CASP-2, ICH1, MRT80, NEDD-2, NEDD2, PPP1R57
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MRT80
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q34
Summary Summary of gene provided in NCBI Entrez 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
miRNA miRNA information provided by mirtarbase database.
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 assay, qRT-PCR, Western blot 23568547
Transcription factors
Transcription factor Regulation Reference
RUNX3 Activation 17956589
XPC Repression 22174370
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 IDA 9044836, 10980123, 21726810
GO:0004197 Function Cysteine-type endopeptidase activity NAS 11156409
GO:0005515 Function Protein binding IPI 8985253, 9560245, 11076957, 11156409, 11350957, 15073321, 16652156, 25416956, 27107012, 31467278, 31515488, 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600639 1503 ENSG00000106144
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Mental retardation Profound Mental Retardation, Mental deficiency, Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
21937992
Papillary renal carcinoma Papillary Renal Cell Carcinoma rs5030823, rs2137087134, rs121913668, rs121913669, rs121913670, rs121913671, rs121913673, rs121913243, rs786202724 20208132
Renal carcinoma Renal Cell Carcinoma, Conventional (Clear Cell) Renal Cell Carcinoma, Sarcomatoid Renal Cell Carcinoma, Collecting Duct Carcinoma of the Kidney rs121913668, rs121913670, rs121913243, rs786202724 20208132
Unknown
Disease term Disease name Evidence References Source
Chromophobe carcinoma Chromophobe Renal Cell Carcinoma 20208132 ClinVar
Leprosy Leprosy GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 33011746
Alzheimer Disease Associate 27901073, 31362787, 31377428, 39396083
Alzheimer Disease Stimulate 36129947
Arthritis Psoriatic Associate 34576119
Arthritis Rheumatoid Associate 9764613
Atherosclerosis Associate 40415363
Attention Deficit Disorder with Hyperactivity Associate 37880421
Autistic Disorder Associate 37880421
Breast Neoplasms Associate 14701762, 19190336, 32682809
Carcinoma Hepatocellular Associate 15991283, 32682809