CASP10 caspase 10 [Homo sapiens (human)] - Gene

Summary

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

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
MicroRNA-421 inhibits caspase-10 expression and promotes breast cancer progression
Title: MicroRNA-421 inhibits caspase-10 expression and promotes breast cancer progression.
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.
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.
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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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	Compare labs
Gastric cancer MedGen: C0024623 OMIM: 613659 GeneReviews: Not available	Compare labs
Lymphoma, non-Hodgkin, familial MedGen: C4721532 OMIM: 605027 GeneReviews: Not available	Compare labs

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH68751 (e-PCR)
- UniSTS:47132

PMC230316P3 (e-PCR)
- UniSTS:272181

CASP10_482 (e-PCR)
- UniSTS:277051

D2S188E (e-PCR)
- UniSTS:147337

RH70685 (e-PCR)
- UniSTS:32193

RH77986 (e-PCR)
- UniSTS:65780

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

EC 3.4.22.63

NP_001193471.1

EC 3.4.22.63

NP_001221.2

EC 3.4.22.63

NP_001293012.1

EC 3.4.22.63

NP_116756.2

EC 3.4.22.63

NP_116758.1

EC 3.4.22.63

NP_116759.2

EC 3.4.22.63

XP_005246964.1

EC 3.4.22.63

XP_047301972.1

EC 3.4.22.63

XP_054200161.1

EC 3.4.22.63

XP_054200162.1

EC 3.4.22.63

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

NG_007265.1 RefSeqGene

Range

4750..51275

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_33

mRNA and Protein(s)

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
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
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
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
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
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
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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

201183141..201229406

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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