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    CASP2 caspase 2 [ Homo sapiens (human) ]

    Gene ID: 835, updated on 22-Apr-2017
    Official Symbol
    CASP2provided by HGNC
    Official Full Name
    caspase 2provided by HGNC
    Primary source
    HGNC:HGNC:1503
    See related
    Ensembl:ENSG00000106144 MIM:600639; Vega:OTTHUMG00000023641
    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]
    Orthologs
    Location:
    7q34
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (143288215..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 uncharacterized LOC105375545 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

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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    Products Interactant Other Gene Complex Source Pubs Description

    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 execution phase of apoptosis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 TAS
    Traceable Author Statement
    more info
     
    aging IEA
    Inferred from Electronic Annotation
    more info
     
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    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 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
     
    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 
    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

    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
      5001..24482
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001224.4NP_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_032982.3NP_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, DA505883, DB455837
      Consensus CDS
      CCDS5879.1
      UniProtKB/Swiss-Prot
      P42575
      UniProtKB/TrEMBL
      A0A0S2Z3H1
      Related
      ENSP00000312664.5, OTTHUMP00000025259, ENST00000310447.9, OTTHUMT00000059962
      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_032983.3NP_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, DA505883, 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 Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      143288215..143307696
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      142922195..142941676
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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