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CASP2 caspase 2 [ Homo sapiens (human) ]

Gene ID: 835, updated on 4-Jan-2025

Summary

Official Symbol
CASP2provided by HGNC
Official Full Name
caspase 2provided by HGNC
Primary source
HGNC:HGNC:1503
See related
Ensembl:ENSG00000106144 MIM:600639; AllianceGenome:HGNC:1503
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; MRT80; 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
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Genomic context

See CASP2 in Genome Data Viewer
Location:
7q34
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (143288351..143307696)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (144643759..144663112)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (142985444..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 MED14-independent group 3 enhancer GRCh37_chr7:142982077-142983276 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18720 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 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18721 Neighboring gene Sharpr-MPRA regulatory region 4117

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cysteine-type endopeptidase activity  
enables cysteine-type endopeptidase activity PubMed 
enables cysteine-type endopeptidase activity PubMed 
enables enzyme binding PubMed 
enables identical protein binding PubMed 
enables protein binding PubMed 
enables protein domain specific binding PubMed 
Process Evidence Code Pubs
involved_in DNA damage response PubMed 
involved_in DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest PubMed 
involved_in apoptotic process  
involved_in apoptotic process PubMed 
involved_in apoptotic signaling pathway PubMed 
involved_in cellular response to mechanical stimulus PubMed 
involved_in ectopic germ cell programmed cell death  
involved_in execution phase of apoptosis PubMed 
involved_in extrinsic apoptotic signaling pathway in absence of ligand  
involved_in intrinsic apoptotic signaling pathway in response to DNA damage  
involved_in intrinsic apoptotic signaling pathway in response to DNA damage PubMed 
involved_in luteolysis  
involved_in negative regulation of apoptotic process PubMed 
involved_in neural retina development  
involved_in positive regulation of apoptotic process PubMed 
involved_in positive regulation of apoptotic process PubMed 
involved_in positive regulation of apoptotic signaling pathway  
involved_in positive regulation of neuron apoptotic process  
involved_in protein processing PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm  
located_in cytosol  
part_of endopeptidase complex PubMed 
located_in nucleolus PubMed 
located_in nucleus 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)

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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
    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
    A8K5F9, D3DXD6, E9PDN0, P42575, P42576, Q59F21, Q7KZL6, Q86UJ3, Q9BUP7, Q9BZK9, Q9BZL0
    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/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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    144643759..144663112
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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