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CASP2 caspase 2 [ Homo sapiens (human) ]

Gene ID: 835, updated on 14-Nov-2024

Summary

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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

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Apoptotic endonuclease EndoG induces alternative splicing of Caspase-2.
    Title: Apoptotic endonuclease EndoG induces alternative splicing of Caspase-2.
  2. Caspase-2 protects against ferroptotic cell death.
    Title: Caspase-2 protects against ferroptotic cell death.
  3. Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly.
    Title: Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly.
  4. Triglyceride induces DNA damage leading to monocyte death by activating caspase-2 and caspase-8.
    Title: Triglyceride induces DNA damage leading to monocyte death by activating caspase-2 and caspase-8.
  5. Dual truncation of tau by caspase-2 accelerates its CHIP-mediated degradation.
    Title: Dual truncation of tau by caspase-2 accelerates its CHIP-mediated degradation.
  6. Targeting caspase-2 interactions with tau in Alzheimer's disease and related dementias.
    Title: Targeting caspase-2 interactions with tau in Alzheimer's disease and related dementias.
  7. Genuine selective caspase-2 inhibition with new irreversible small peptidomimetics.
    Title: Genuine selective caspase-2 inhibition with new irreversible small peptidomimetics.
  8. Caspase-2 mRNA levels are not elevated in mild cognitive impairment, Alzheimer's disease, Huntington's disease, or Lewy Body dementia.
    Title: Caspase-2 mRNA levels are not elevated in mild cognitive impairment, Alzheimer's disease, Huntington's disease, or Lewy Body dementia.
  9. miR-150-3p enhances neuroprotective effects of neural stem cell exosomes after hypoxic-ischemic brain injury by targeting CASP2.
    Title: miR-150-3p enhances neuroprotective effects of neural stem cell exosomes after hypoxic-ischemic brain injury by targeting CASP2.
  10. Caspase-2 as a master regulator of genomic stability.
    Title: Caspase-2 as a master regulator of genomic stability.
Submit: New GeneRIF Correction See all GeneRIFs (117)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly
MedGen: C5882733 OMIM: 620653 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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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_001224.5 → NP_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: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

    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: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

    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: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)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_032984.2: Suppressed sequence

    Description
    NM_032984.2: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P42575.2 GenPept UniProtKB/Swiss-Prot:P42575

Gene LinkOut

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