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CASP2 caspase 2 [ Homo sapiens (human) ]

Gene ID: 835, updated on 20-Sep-2020

Summary

Official Symbol
CASP2provided by HGNC
Official Full Name
caspase 2provided by HGNC
Primary source
HGNC:HGNC:1503
See related
Ensembl:ENSG00000106144 MIM:600639
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ICH1; NEDD2; CASP-2; NEDD-2; PPP1R57
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, 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]
Expression
Ubiquitous expression in bone marrow (RPKM 14.7), lymph node (RPKM 11.6) and 25 other tissues See more
Orthologs

Genomic context

See CASP2 in Genome Data Viewer
Location:
7q34
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (143288351..143307696)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (142985308..143004789)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene TMEM139 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 7901 Neighboring gene glutathione S-transferase kappa 1 Neighboring gene transmembrane protein 139 Neighboring gene RNA, 7SL, cytoplasmic 535, pseudogene Neighboring gene RNA, 7SL, cytoplasmic 481, pseudogene Neighboring gene histidine triad nucleotide binding protein 1 pseudogene 1 Neighboring gene chloride voltage-gated channel 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cysteine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
cysteine-type endopeptidase activity NAS
Non-traceable Author Statement
more info
PubMed 
cysteine-type endopeptidase activity involved in apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cysteine-type endopeptidase activity involved in apoptotic signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cysteine-type endopeptidase activity involved in execution phase of apoptosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enzyme binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest IMP
Inferred from Mutant Phenotype
more info
PubMed 
activation of cysteine-type endopeptidase activity involved in apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
aging IEA
Inferred from Electronic Annotation
more info
 
apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
apoptotic process NAS
Non-traceable Author Statement
more info
PubMed 
apoptotic signaling pathway TAS
Traceable Author Statement
more info
PubMed 
brain development IEA
Inferred from Electronic Annotation
more info
 
cellular response to mechanical stimulus IEP
Inferred from Expression Pattern
more info
PubMed 
ectopic germ cell programmed cell death IEA
Inferred from Electronic Annotation
more info
 
execution phase of apoptosis TAS
Traceable Author Statement
more info
PubMed 
extrinsic apoptotic signaling pathway in absence of ligand IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intrinsic apoptotic signaling pathway in response to DNA damage IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intrinsic apoptotic signaling pathway in response to DNA damage TAS
Traceable Author Statement
more info
PubMed 
luteolysis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process NAS
Non-traceable Author Statement
more info
PubMed 
neural retina development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
protein processing IDA
Inferred from Direct Assay
more info
PubMed 
regulation of apoptotic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
nucleus TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
caspase-2
Names
caspase 2 apoptosis-related cysteine peptidase
neural precursor cell expressed developmentally down-regulated protein 2
protease ICH-1
protein phosphatase 1, regulatory subunit 57
NP_001215.1
NP_116764.2
NP_116765.2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029248.1 RefSeqGene

    Range
    5137..24482
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001224.5NP_001215.1  caspase-2 isoform 2

    See identical proteins and their annotated locations for NP_001215.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternative 5' terminal exon (resulting in translation initiation from an in-frame downstream AUG), and an additional internal exon compared to variant 1. The latter causes a frame-shift, and early translation termination, rendering this transcript a candidate for nonsense-mediated mRNA decay (NMD). However, this variant is represented as protein-coding as the encoded short isoform (2, also known as ICH-1S) has been shown to be expressed in vivo (PMID:12598307), and to function as a negative regulator of apoptosis (PMID:8087842).
    Source sequence(s)
    AC073342, BC002427, BQ447606, U13022
    UniProtKB/Swiss-Prot
    P42575
    UniProtKB/TrEMBL
    D3DXD9
    Conserved Domains (2) summary
    cl00042
    Location:161296
    CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues; Cysteine-dependent aspartate-directed proteases that mediate programmed cell death (apoptosis). Caspases are synthesized as inactive zymogens and activated by proteolysis of the peptide ...
    cl14633
    Location:187
    DD; Death Domain Superfamily of protein-protein interaction domains
  2. NM_032982.4NP_116764.2  caspase-2 isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_116764.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1, also known as ICH-1L), which has been shown to function as a positive regulator of apoptosis (PMID:8087842).
    Source sequence(s)
    AC073342, AK291274, BQ447606, DB455837
    Consensus CDS
    CCDS5879.1
    UniProtKB/Swiss-Prot
    P42575
    UniProtKB/TrEMBL
    A0A0S2Z3H1
    Related
    ENSP00000312664.5, ENST00000310447.10
    Conserved Domains (2) summary
    smart00115
    Location:192447
    CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
    cd08332
    Location:32118
    CARD_CASP2; Caspase activation and recruitment domain of Caspase-2
  3. NM_032983.4NP_116765.2  caspase-2 isoform 3

    See identical proteins and their annotated locations for NP_116765.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an exon and uses an alternate splice site in the coding region, which results in a frameshift and early stop codon, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC073342, AF314174, BC002427, BQ447606, DB455840
    Consensus CDS
    CCDS47733.1
    UniProtKB/Swiss-Prot
    P42575
    UniProtKB/TrEMBL
    A0A087WYM1
    Related
    ENSP00000481929.1, ENST00000619992.4
    Conserved Domains (1) summary
    cl14633
    Location:32108
    DD; Death Domain Superfamily of protein-protein interaction domains

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    143288351..143307696
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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