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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)

    NEW Try the new Transcript table

    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_001224.5 → NP_001215.1  caspase-2 isoform 2

      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:161 → 296
      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:1 → 87
      DD; Death Domain Superfamily of protein-protein interaction domains
    2. NM_032982.4 → NP_116764.2  caspase-2 isoform 1 preproprotein

      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:192 → 447
      CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
      cd08332
      Location:32 → 118
      CARD_CASP2; Caspase activation and recruitment domain of Caspase-2
    3. NM_032983.4 → NP_116765.2  caspase-2 isoform 3

      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:32 → 108
      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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