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CASP10 caspase 10 [ Homo sapiens (human) ]

Gene ID: 843, updated on 14-Nov-2024

Summary

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Official Symbol
CASP10provided by HGNC
Official Full Name
caspase 10provided by HGNC
Primary source
HGNC:HGNC:1500
See related
Ensembl:ENSG00000003400 MIM:601762; AllianceGenome:HGNC:1500
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
MCH4; ALPS2; FLICE2; FLICE-2
Summary
This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein cleaves and activates caspases 3 and 7, and the protein itself is processed by caspase 8. Mutations in this gene are associated with type IIA autoimmune lymphoproliferative syndrome, non-Hodgkin lymphoma and gastric cancer. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]
Expression
Broad expression in duodenum (RPKM 6.6), spleen (RPKM 5.9) and 23 other tissues See more
Orthologs
all
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Genomic context

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See CASP10 in Genome Data Viewer
Location:
2q33.1
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (201183141..201229406)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (201666595..201712862)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (202047864..202094129)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene CASP8 and FADD like apoptosis regulator Neighboring gene Sharpr-MPRA regulatory region 10379 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:202014382-202015067 Neighboring gene CFLAR antisense RNA 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:202015298-202016497 Neighboring gene RNA, U7 small nuclear 45 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16979 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16980 Neighboring gene RPL38 pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16981 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:202084159-202084703 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16982 Neighboring gene MT-ND4L pseudogene 13 Neighboring gene MT-ND5 pseudogene 25 Neighboring gene MT-ND4 pseudogene 23 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16983 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16984 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16985 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16986 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 2:202122995 Neighboring gene caspase 8 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16988 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16989 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 2:202153225 Neighboring gene flagellum associated containing coiled-coil domains 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:202184683-202185184 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:202185185-202185684 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16990

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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Related articles in PubMed

  1. Caspase-10 affects the pathogenesis of primary biliary cholangitis by regulating inflammatory cell death. Cho M, et al. J Autoimmun, 2022 Dec. PMID 36323068
  2. Apoptosis induced by avian H5N1 virus in human monocyte-derived macrophages involves TRAIL-inducing caspase-10 activation. Ekchariyawat P, et al. Innate Immun, 2012 Jun. PMID 21911414
  3. Downregulation of caspase-10 predicting poor survival after resection of stage II colorectal cancer. Shen XG, et al. Int J Colorectal Dis, 2011 Dec. PMID 21559821
  4. Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa. Tadaki H, et al. Int J Immunogenet, 2011 Aug. PMID 21382177
  5. Individual caspase-10 isoforms play distinct and opposing roles in the initiation of death receptor-mediated tumour cell apoptosis. Mühlethaler-Mottet A, et al. Cell Death Dis, 2011 Mar 3. PMID 21368896, Free PMC Article

See all (149) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Study of the potential role of CASPASE-10 mutations in the development of autoimmune lymphoproliferative syndrome.
    Title: Study of the potential role of CASPASE-10 mutations in the development of autoimmune lymphoproliferative syndrome.
  2. Caspase-10 affects the pathogenesis of primary biliary cholangitis by regulating inflammatory cell death.
    Title: Caspase-10 affects the pathogenesis of primary biliary cholangitis by regulating inflammatory cell death.
  3. Relationship Between CASP9 and CASP10 Gene Polymorphisms and Cancer Susceptibility: Evidence from an Updated Meta-analysis.
    Title: Relationship Between CASP9 and CASP10 Gene Polymorphisms and Cancer Susceptibility: Evidence from an Updated Meta-analysis.
  4. Variants in CASP10, a diagnostic challenge: Single center experience and review of the literature.
    Title: Variants in CASP10, a diagnostic challenge: Single center experience and review of the literature.
  5. Long noncoding RNA PVT1 facilitates high glucose-induced cardiomyocyte death through the miR-23a-3p/CASP10 axis.
    Title: Long noncoding RNA PVT1 facilitates high glucose-induced cardiomyocyte death through the miR-23a-3p/CASP10 axis.
  6. caspase-10 suppresses ATP citrate lyase-promoted malignant phenotype. These findings expand the substrate repertoire of caspase-10 and highlight its pivotal role in inhibiting tumorigenesis through metabolic and epigenetic mechanisms.
    Title: Caspase-10 inhibits ATP-citrate lyase-mediated metabolic and epigenetic reprogramming to suppress tumorigenesis.
  7. MicroRNA-421 inhibits caspase-10 expression and promotes breast cancer progression
    Title: MicroRNA-421 inhibits caspase-10 expression and promotes breast cancer progression.
  8. case-control study, including 600 hepatocellular carcinoma (HCC) and 600 HBsAg positive controls without HCC, was conducted to assess the relationship between 11 tagging SNPs in CASP8, CASP10 and CFLAR and HBV-related HCC risk .These results suggest that the CASP8 -652 6N ins/del polymorphism may play a protective role in the development, progression, and survival of HBV-related HCC among the Chinese Han population.
    Title: Genetic variants in cell death pathway genes and HBV-related hepatocellular carcinoma among a Chinese Han population.
  9. Caspase-10 is a negative regulator of cell death and a facilitator of gene induction separates the function of cFLIP and caspase-10 in the death-inducing signaling complex.
    Title: Caspase-10 Negatively Regulates Caspase-8-Mediated Cell Death, Switching the Response to CD95L in Favor of NF-κB Activation and Cell Survival.
  10. caspase-10 was dispensable for enhancement of cisplatin/LA-12 and TRAIL combination-induced cell death and stimulation of Bid cleavage
    Title: Cisplatin or LA-12 enhance killing effects of TRAIL in prostate cancer cells through Bid-dependent stimulation of mitochondrial apoptotic pathway but not caspase-10.
Submit: New GeneRIF Correction See all GeneRIFs (64)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Autoimmune lymphoproliferative syndrome type 2A
MedGen: C1858968 OMIM: 603909 GeneReviews: Autoimmune Lymphoproliferative Syndrome
not available
Gastric cancer
MedGen: C0024623 OMIM: 613659 GeneReviews: Not available
not available
Lymphoma, non-Hodgkin, familial
MedGen: C4721532 OMIM: 605027 GeneReviews: Not available
not available

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-04-10)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated 2020-04-10)

ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.
EBI GWAS Catalog

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 IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables death effector domain binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in apoptotic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in positive regulation of canonical NF-kappaB signal transduction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of neuron apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein maturation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of CD95 death-inducing signaling complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of CD95 death-inducing signaling complex IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
part_of ripoptosome IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
caspase-10
Names
CASP-10
FADD-like ICE2
FAS-associated death domain protein interleukin-1B-converting enzyme 2
ICE-like apoptotic protease 4
apoptotic protease MCH-4
caspase 10 apoptosis-related cysteine peptidase
caspase 10, apoptosis-related cysteine protease
interleukin-1B-converting enzyme 2
NP_001193453.1
NP_001193471.1
NP_001221.2
NP_001293012.1
NP_116756.2
NP_116758.1
NP_116759.2
XP_005246964.1
XP_047301972.1
XP_054200161.1
XP_054200162.1

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_007265.1 RefSeqGene

    Range
    4750..51275
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_33

mRNA and Protein(s)

  1. NM_001206524.2 → NP_001193453.1  caspase-10 isoform 6 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks two in-frame coding exons compared to variant 1. This results in a shorter isoform (6) missing an internal protein segment compared to isoform 1.
    Source sequence(s)
    AC007283, BC042844, DA456072, U60519
    Consensus CDS
    CCDS56159.1
    UniProtKB/Swiss-Prot
    Q92851
    Related
    ENSP00000314599.7, ENST00000313728.12
    Conserved Domains (3) summary
    smart00115
    Location:241 → 447
    CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
    cd08814
    Location:112 → 190
    DED_Caspase_10_r2; Death Effector Domain, repeat 2, of Caspase-10
    cl14633
    Location:18 → 99
    DD; Death Domain Superfamily of protein-protein interaction domains

  2. NM_001206542.2 → NP_001193471.1  caspase-10 isoform 5 preproprotein

    See identical proteins and their annotated locations for NP_001193471.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks two in-frame coding exons and contains an alternate 3' terminal exon compared to variant 1. This results in a shorter isoform (5) missing an internal protein segment and with a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC007283, AJ487679, BC042844, BX089180, DA456072
    Consensus CDS
    CCDS56160.1
    UniProtKB/Swiss-Prot
    Q92851
    Related
    ENSP00000396835.1, ENST00000448480.1
    Conserved Domains (3) summary
    smart00115
    Location:233 → 474
    CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
    cd08814
    Location:112 → 190
    DED_Caspase_10_r2; Death Effector Domain, repeat 2, of Caspase-10
    cl14633
    Location:18 → 99
    DD; Death Domain Superfamily of protein-protein interaction domains

  3. NM_001230.5 → NP_001221.2  caspase-10 isoform 3 preproprotein

    See identical proteins and their annotated locations for NP_001221.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two in-frame coding exons compared to variant 1. This results in a shorter isoform (3, also known as Mch4 and caspase-10/a) missing an internal protein segment compared to isoform 1.
    Source sequence(s)
    AC007283, BC042844, DA456072, U60519
    Consensus CDS
    CCDS2339.1
    UniProtKB/TrEMBL
    A0A0S2Z3G5
    Related
    ENSP00000237865.7, ENST00000346817.10
    Conserved Domains (3) summary
    smart00115
    Location:233 → 471
    CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
    cd08814
    Location:112 → 190
    DED_Caspase_10_r2; Death Effector Domain, repeat 2, of Caspase-10
    cl14633
    Location:18 → 99
    DD; Death Domain Superfamily of protein-protein interaction domains

  4. NM_001306083.2 → NP_001293012.1  caspase-10 isoform 7

    See identical proteins and their annotated locations for NP_001293012.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks multiple exons and includes an alternate 3' terminal exon, compared to variant 1. It encodes isoform 7 which is significantly shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK225475, AW190618, BP871945, U60519
    Consensus CDS
    CCDS77506.1
    UniProtKB/TrEMBL
    A0A8Q3WLN0
    Related
    ENSP00000363781.3, ENST00000374650.8
    Conserved Domains (2) summary
    cd08814
    Location:112 → 190
    DED_Caspase_10_r2; Death Effector Domain, repeat 2, of Caspase-10
    cl14633
    Location:18 → 99
    DD; Death Domain Superfamily of protein-protein interaction domains

  5. NM_032974.5 → NP_116756.2  caspase-10 isoform 2 preproprotein

    See identical proteins and their annotated locations for NP_116756.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate 3' terminal exon compared to variant 1, and encodes an isoform (2, also known as FLICE2 and caspase-10/b) that has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC007283, BC042844, BX089180, DA456072
    Consensus CDS
    CCDS2338.1
    UniProtKB/Swiss-Prot
    Q68HC0, Q6KF62, Q6KF63, Q8IUP5, Q8WYQ8, Q92851, Q99845, Q9Y2U6, Q9Y2U7
    Related
    ENSP00000272879.5, ENST00000272879.9
    Conserved Domains (3) summary
    smart00115
    Location:276 → 517
    CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
    cd08341
    Location:18 → 99
    DED_Caspase_10_r1; Death effector domain, repeat 1, of Caspase-10
    cd08814
    Location:112 → 190
    DED_Caspase_10_r2; Death Effector Domain, repeat 2, of Caspase-10

  6. NM_032976.4 → NP_116758.1  caspase-10 isoform 4

    See identical proteins and their annotated locations for NP_116758.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an internal coding exon compared to variant 1. This results in a frame-shift and premature translation termination, rendering this transcript a candidate for nonsense-mediated mRNA decay (NMD). However, the encoded truncated isoform (4, also known as caspase-10/c) is represented, as there is published report (PMID:10187817) that shows that although this isoform lacks proteolytic activity in vitro, it efficiently induces the formation of perinuclear filamentous structures and cell death in vivo.
    Source sequence(s)
    AC007283, BC042844, DA456072, U60519
    UniProtKB/TrEMBL
    A0A8Q3WLN0
    Related
    ENSP00000512459.1, ENST00000492363.6
    Conserved Domains (2) summary
    cd08814
    Location:112 → 190
    DED_Caspase_10_r2; Death Effector Domain, repeat 2, of Caspase-10
    cl14633
    Location:18 → 99
    DD; Death Domain Superfamily of protein-protein interaction domains

  7. NM_032977.4 → NP_116759.2  caspase-10 isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_116759.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1, also known as caspase-10/d).
    Source sequence(s)
    AC007283, BC042844, DA456072, U60519
    Consensus CDS
    CCDS2340.1
    UniProtKB/TrEMBL
    A0A0S2Z3Z5
    Related
    ENSP00000286186.6, ENST00000286186.11
    Conserved Domains (3) summary
    smart00115
    Location:276 → 514
    CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
    cd08814
    Location:112 → 190
    DED_Caspase_10_r2; Death Effector Domain, repeat 2, of Caspase-10
    cl14633
    Location:18 → 99
    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    201183141..201229406
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005246907.3 → XP_005246964.1  caspase-10 isoform X1

    Conserved Domains (3) summary
    smart00115
    Location:275 → 513
    CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
    cd08814
    Location:112 → 190
    DED_Caspase_10_r2; Death Effector Domain, repeat 2, of Caspase-10
    cl14633
    Location:18 → 99
    DD; Death Domain Superfamily of protein-protein interaction domains

  2. XM_047446016.1 → XP_047301972.1  caspase-10 isoform X2

RNA

  1. XR_923043.3 RNA Sequence

  2. XR_923044.3 RNA Sequence

  3. XR_007082551.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    201666595..201712862
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054344186.1 → XP_054200161.1  caspase-10 isoform X1

  2. XM_054344187.1 → XP_054200162.1  caspase-10 isoform X2

RNA

  1. XR_008486556.1 RNA Sequence

  2. XR_008486557.1 RNA Sequence

  3. XR_008486558.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q92851.3 GenPept UniProtKB/Swiss-Prot:Q92851

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