• Gene id: 837

Gene Summary

• Gene Symbol: CASP4   Gene   UCSC   Ensembl
• Aliases: ICE(rel)II, ICEREL-II, ICH-2, Mih1, Mih1/TX, TX
• Gene name: caspase 4
• Alternate names: caspase-4, CASP-4, ICE and Ced-3 homolog 2, ICE(rel)-II, apoptotic cysteine protease Mih1/TX, caspase 4, apoptosis-related cysteine peptidase, caspase 4, apoptosis-related cysteine protease, protease ICH-2, protease TX,
• Gene location: 11q22.3 (104968597: 104942865)     Exons: 10     NC_000011.10
• Gene summary(Entrez): This gene encodes a protein that 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 composed of a prod
• OMIM: 602664

Protein Summary

• Protein general information: P49662  
  • Name: Caspase 4 (CASP 4) (EC 3.4.22.57) (ICE and Ced 3 homolog 2) (ICH 2) (ICE(rel) II) (Mih1) (Protease TX) [Cleaved into: Caspase 4 subunit 1; Caspase 4 subunit 2]
  • Length: 377  
  • Mass: 43,262
  • Tissue specificity: Isoform 1 is detected in testis. Isoform 4 is detected in testis and brain, and at lower levels in kidney, heart, pancreas, thyroid, ovary, adrenal gland, spinal cord, trachea and liver. {ECO
• Sequence:

  MAEGNHRKKPLKVLESLGKDFLTGVLDNLVEQNVLNWKEEEKKKYYDAKTEDKVRVMADSMQEKQRMAGQMLLQT
  FFNIDQISPNKKAHPNMEAGPPESGESTDALKLCPHEEFLRLCKERAEEIYPIKERNNRTRLALIICNTEFDHLP
  PRNGADFDITGMKELLEGLDYSVDVEENLTARDMESALRAFATRPEHKSSDSTFLVLMSHGILEGICGTVHDEKK
  PDVLLYDTIFQIFNNRNCLSLKDKPKVIIVQACRGANRGELWVRDSPASLEVASSQSSENLEEDAVYKTHVEKDF
  IAFCSSTPHNVSWRDSTMGSIFITQLITCFQKYSWCCHLEEVFRKVQQSFETPRAKAQMPTIERLSMTRYFYLFP
  GN

• Structural information:
  • Protein Domains: CARD. (1-91)
  • Interpro: IPR001315  IPR029030  IPR033139  IPR016129  IPR011029   IPR002138  IPR001309  IPR015917  
  • Prosite: PS50209 PS01122 PS01121 PS50207 PS50208
  • CDD: cd00032
  • DIP: 44806
  • STRING: ENSP00000388566
• Other Databases: GeneCards:  CASP4  Malacards:  CASP4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005576	extracellular region	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0006915	apoptotic process	TAS	biological process
GO:0006915	apoptotic process	TAS	biological process
GO:0006954	inflammatory response	IEA	biological process
GO:0042981	regulation of apoptotic process	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0050727	regulation of inflammatory response	IBA	biological process
GO:0070059	intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IMP	biological process
GO:0072557	IPAF inflammasome complex	IBA	cellular component
GO:0072559	NLRP3 inflammasome complex	IBA	cellular component
GO:0097169	AIM2 inflammasome complex	IBA	cellular component
GO:0097193	intrinsic apoptotic signaling pathway	IMP	biological process
GO:1904646	cellular response to beta-amyloid	IMP	biological process
GO:0097153	cysteine-type endopeptidase activity involved in apoptotic process	IBA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0004197	cysteine-type endopeptidase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0006508	proteolysis	TAS	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0006915	apoptotic process	TAS	biological process
GO:0006915	apoptotic process	TAS	biological process
GO:0006954	inflammatory response	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0012501	programmed cell death	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0042981	regulation of apoptotic process	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0050727	regulation of inflammatory response	IBA	biological process
GO:0061702	inflammasome complex	IEA	cellular component
GO:0061702	inflammasome complex	IEA	cellular component
GO:0070059	intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IMP	biological process
GO:0072557	IPAF inflammasome complex	IBA	cellular component
GO:0072559	NLRP3 inflammasome complex	IBA	cellular component
GO:0097169	AIM2 inflammasome complex	IBA	cellular component
GO:0097193	intrinsic apoptotic signaling pathway	IMP	biological process
GO:1904646	cellular response to beta-amyloid	IMP	biological process
GO:0097153	cysteine-type endopeptidase activity involved in apoptotic process	IBA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0006508	proteolysis	TAS	biological process
GO:0006915	apoptotic process	TAS	biological process
GO:0006915	apoptotic process	TAS	biological process
GO:0050727	regulation of inflammatory response	IBA	biological process
GO:0070059	intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IMP	biological process
GO:0072557	IPAF inflammasome complex	IBA	cellular component
GO:0072559	NLRP3 inflammasome complex	IBA	cellular component
GO:0097169	AIM2 inflammasome complex	IBA	cellular component
GO:0097193	intrinsic apoptotic signaling pathway	IMP	biological process
GO:1904646	cellular response to beta-amyloid	IMP	biological process
GO:0097153	cysteine-type endopeptidase activity involved in apoptotic process	IBA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04621	NOD-like receptor signaling pathway
hsa05130	Pathogenic Escherichia coli infection

Diseases

Associated diseases	References
Cancer (gastric)	GAD: 19269008
Cancer (esophageal)	GAD: 20453000
Cancer (Adenocarcinoma)	GAD: 20402676
Cancer (lymphoma)	GAD: 19414860
Hodgkin disease	GAD: 19573080
Male factor infertility	MIK: 21317160
Male factor infertility	MIK: 21317160
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Male Infertility	MIK: 21317160
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21317160	Male Infertility			33 (22 subfertile men versus 11 potentially fertile men)	Male infertility	Casp4 Casp6 and TNFSF10
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881