• Gene id: 843

Gene Summary

• Gene Symbol: CASP10   Gene   UCSC   Ensembl
• Aliases: ALPS2, FLICE2, MCH4
• Gene name: caspase 10
• Alternate names: caspase-10, 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,
• Gene location: 2q33.1 (201182884: 201229405)     Exons: 13     NC_000002.12
• Gene summary(Entrez): 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 pro
• OMIM: 604448

SNPs

rs10459953

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.27800492C>A
NC_000017.11   g.27800492C>G
NC_000017.11   g.27800492C>T
NC_000017.10   g.26127518C>A
NC_000017.10   g.26127518C>G
NC_000017.10   g.26127518C>T
NG_011470.1   g.5038G>T
NG_011470.1   g.5038G>C
NG_011470.1   g.5038G>A
NM_000625.4   c.-227G>T
  

rs2297518

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.27769571G>A
NC_000017.10   g.26096597G>A
NG_011470.1   g.35959C>T
NM_000625.4   c.1823C>T
NP_000616.3   p.Ser608Leu|SEQ=[G/A]|GENE=NOS2

Protein Summary

• Protein general information: Q92851  
  • Name: Caspase 10 (CASP 10) (EC 3.4.22.63) (Apoptotic protease Mch 4) (FAS associated death domain protein interleukin 1B converting enzyme 2) (FLICE2) (ICE like apoptotic protease 4) [Cleaved into: Caspase 10 subunit p23/17; Caspase 10 subunit p12]
  • Length: 521  
  • Mass: 58951
  • Tissue specificity: Detectable in most tissues. Lowest expression is seen in brain, kidney, prostate, testis and colon.
• Sequence:

  MKSQGQHWYSSSDKNCKVSFREKLLIIDSNLGVQDVENLKFLCIGLVPNKKLEKSSSASDVFEHLLAEDLLSEED
  PFFLAELLYIIRQKKLLQHLNCTKEEVERLLPTRQRVSLFRNLLYELSEGIDSENLKDMIFLLKDSLPKTEMTSL
  SFLAFLEKQGKIDEDNLTCLEDLCKTVVPKLLRNIEKYKREKAIQIVTPPVDKEAESYQGEEELVSQTDVKTFLE
  ALPQESWQNKHAGSNGNRATNGAPSLVSRGMQGASANTLNSETSTKRAAVYRMNRNHRGLCVIVNNHSFTSLKDR
  QGTHKDAEILSHVFQWLGFTVHIHNNVTKVEMEMVLQKQKCNPAHADGDCFVFCILTHGRFGAVYSSDEALIPIR
  EIMSHFTALQCPRLAEKPKLFFIQACQGEEIQPSVSIEADALNPEQAPTSLQDSIPAEADFLLGLATVPGYVSFR
  HVEEGSWYIQSLCNHLKKLVPRMLKFLEKTMEIRGRKRTVWGAKQISATSLPTAISAQTPRPPMRRWSSVS

• Structural information:
  • Protein Domains: (19..9-)
    (/note="DED-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00065-)
    (114..18-)
    (/note="DED-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00065"-)
  • Interpro: IPR029030  IPR035701  IPR033139  IPR016129  IPR011029   IPR001875  IPR002398  IPR002138  IPR001309  IPR015917  
  • Prosite: PS01122 PS01121 PS50207 PS50208 PS50168
  • CDD: cd00032
  • STRING: ENSP00000286186
• Other Databases: GeneCards:  CASP10  Malacards:  CASP10

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0097199	cysteine-type endopeptidase activity involved in apoptotic signaling pathway	IBA	molecular function
GO:0035877	death effector domain binding	IBA	molecular function
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IBA	biological process
GO:0097153	cysteine-type endopeptidase activity involved in apoptotic process	IBA	molecular function
GO:0006915	apoptotic process	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0097199	cysteine-type endopeptidase activity involved in apoptotic signaling pathway	IEA	molecular function
GO:0004197	cysteine-type endopeptidase activity	IEA	molecular function
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0042981	regulation of apoptotic process	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0006915	apoptotic process	IEA	biological process
GO:0004197	cysteine-type endopeptidase activity	TAS	molecular function
GO:0004197	cysteine-type endopeptidase activity	TAS	molecular function
GO:0006915	apoptotic process	TAS	biological process
GO:0007166	cell surface receptor signaling pathway	TAS	biological process
GO:0042981	regulation of apoptotic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0097190	apoptotic signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0097342	ripoptosome	IDA	cellular component
GO:0031265	CD95 death-inducing signaling complex	IDA	cellular component
GO:0004197	cysteine-type endopeptidase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0097199	cysteine-type endopeptidase activity involved in apoptotic signaling pathway	IMP	molecular function
GO:0097199	cysteine-type endopeptidase activity involved in apoptotic signaling pathway	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IMP	biological process
GO:0035877	death effector domain binding	IPI	molecular function
GO:0097199	cysteine-type endopeptidase activity involved in apoptotic signaling pathway	IBA	molecular function
GO:0035877	death effector domain binding	IBA	molecular function
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IBA	biological process
GO:0097153	cysteine-type endopeptidase activity involved in apoptotic process	IBA	molecular function
GO:0006915	apoptotic process	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0097199	cysteine-type endopeptidase activity involved in apoptotic signaling pathway	IEA	molecular function
GO:0004197	cysteine-type endopeptidase activity	IEA	molecular function
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0042981	regulation of apoptotic process	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0006915	apoptotic process	IEA	biological process
GO:0004197	cysteine-type endopeptidase activity	TAS	molecular function
GO:0004197	cysteine-type endopeptidase activity	TAS	molecular function
GO:0006915	apoptotic process	TAS	biological process
GO:0007166	cell surface receptor signaling pathway	TAS	biological process
GO:0042981	regulation of apoptotic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0097190	apoptotic signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0097342	ripoptosome	IDA	cellular component
GO:0031265	CD95 death-inducing signaling complex	IDA	cellular component
GO:0004197	cysteine-type endopeptidase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0097199	cysteine-type endopeptidase activity involved in apoptotic signaling pathway	IMP	molecular function
GO:0097199	cysteine-type endopeptidase activity involved in apoptotic signaling pathway	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IMP	biological process
GO:0035877	death effector domain binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05152	Tuberculosis
hsa05161	Hepatitis B
hsa04210	Apoptosis
hsa04668	TNF signaling pathway
hsa04622	RIG-I-like receptor signaling pathway

Diseases

Associated diseases	References
Autoimmune lymphoproliferative syndromes	KEGG:H00108
Autoimmune lymphoproliferative syndromes	KEGG:H00108
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq