• Gene id: 839

Gene Summary

• Gene Symbol: CASP6   Gene   UCSC   Ensembl
• Aliases: MCH2
• Gene name: caspase 6
• Alternate names: caspase-6, apoptotic protease MCH-2, caspase 6, apoptosis-related cysteine peptidase, caspase 6, apoptosis-related cysteine protease,
• Gene location: 4q25 (109703472: 109688628)     Exons: 7     NC_000004.12
• Gene summary(Entrez): This gene encodes a member of the cysteine-aspartic acid protease (caspase) family of enzymes. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic
• OMIM: 601532

Protein Summary

• Protein general information: P55212  
  • Name: Caspase 6 (CASP 6) (EC 3.4.22.59) (Apoptotic protease Mch 2) [Cleaved into: Caspase 6 subunit p18; Caspase 6 subunit p11]
  • Length: 293  
  • Mass: 33,310
  • Tissue specificity: Expressed in brain, thymus, CD4 T-cells, testis and epithelial ovarian cancer tissue. {ECO
• Sequence:

  MSSASGLRRGHPAGGEENMTETDAFYKREMFDPAEKYKMDHRRRGIALIFNHERFFWHLTLPERRGTCADRDNLT
  RRFSDLGFEVKCFNDLKAEELLLKIHEVSTVSHADADCFVCVFLSHGEGNHIYAYDAKIEIQTLTGLFKGDKCHS
  LVGKPKIFIIQACRGNQHDVPVIPLDVVDNQTEKLDTNITEVDAASVYTLPAGADFLMCYSVAEGYYSHRETVNG
  SWYIQDLCEMLGKYGSSLEFTELLTLVNRKVSQRRVDFCKDPSAIGKKQVPCFASMLTKKLHFFPKSN

• Structural information:
  • Interpro: IPR029030  IPR037554  IPR033139  IPR016129  IPR002138   IPR001309  IPR015917  
  • Prosite: PS01122 PS01121 PS50207 PS50208
  • CDD: cd00032
  • PDB: 1MI9 2WDP 3K7E 3NKF 3NR2 3OD5 3P45 3P4U 3QNW 3S70 3S8E 3V6L 3V6M 4EJF 4FXO 4HVA 4IYR 4N5D 4N6G 4N7J 4N7M 4NBK 4NBL 4NBN
  • PDBsum: 1MI9 2WDP 3K7E 3NKF 3NR2 3OD5 3P45 3P4U 3QNW 3S70 3S8E 3V6L 3V6M 4EJF 4FXO 4HVA 4IYR 4N5D 4N6G 4N7J 4N7M 4NBK 4NBL 4NBN
  • DIP: 44649
  • STRING: ENSP00000265164
• Other Databases: GeneCards:  CASP6  Malacards:  CASP6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004197	cysteine-type endopeptidase activity	TAS	molecular function
GO:0004197	cysteine-type endopeptidase activity	TAS	molecular function
GO:0004197	cysteine-type endopeptidase activity	TAS	molecular function
GO:0004197	cysteine-type endopeptidase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006508	proteolysis	IDA	biological process
GO:0006915	apoptotic process	TAS	biological process
GO:0006921	cellular component disassembly involved in execution phase of apoptosis	TAS	biological process
GO:0008234	cysteine-type peptidase activity	TAS	molecular function
GO:0030855	epithelial cell differentiation	IEP	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042981	regulation of apoptotic process	TAS	biological process
GO:0097153	cysteine-type endopeptidase activity involved in apoptotic process	IBA	molecular function
GO:0004175	endopeptidase activity	IEA	molecular function
GO:0004197	cysteine-type endopeptidase activity	IEA	molecular function
GO:0004197	cysteine-type endopeptidase activity	TAS	molecular function
GO:0004197	cysteine-type endopeptidase activity	TAS	molecular function
GO:0004197	cysteine-type endopeptidase activity	TAS	molecular function
GO:0004197	cysteine-type endopeptidase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0006508	proteolysis	IDA	biological process
GO:0006508	proteolysis	TAS	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0006915	apoptotic process	TAS	biological process
GO:0006921	cellular component disassembly involved in execution phase of apoptosis	TAS	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:0008234	cysteine-type peptidase activity	TAS	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0030855	epithelial cell differentiation	IEP	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042981	regulation of apoptotic process	TAS	biological process
GO:0097153	cysteine-type endopeptidase activity involved in apoptotic process	IBA	molecular function
GO:0004197	cysteine-type endopeptidase activity	TAS	molecular function
GO:0004197	cysteine-type endopeptidase activity	TAS	molecular function
GO:0004197	cysteine-type endopeptidase activity	TAS	molecular function
GO:0004197	cysteine-type endopeptidase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006508	proteolysis	IDA	biological process
GO:0006508	proteolysis	TAS	biological process
GO:0006915	apoptotic process	TAS	biological process
GO:0006921	cellular component disassembly involved in execution phase of apoptosis	TAS	biological process
GO:0008234	cysteine-type peptidase activity	TAS	molecular function
GO:0030855	epithelial cell differentiation	IEP	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042981	regulation of apoptotic process	TAS	biological process
GO:0097153	cysteine-type endopeptidase activity involved in apoptotic process	IBA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04210	Apoptosis

Diseases

Associated diseases	References
Cancer (colorectal)	GAD: 19219602
Cancer (Adenocarcinoma)	GAD: 19052714
Cancer (gastric)	GAD: 19269008
Cancer (lung)	GAD: 20661084
Cancer (lymphoma)	GAD: 19414860
Hodgkin disease	GAD: 19573080
Male subfertility	MIK: 21317160
Male factor infertility	MIK: 21317160
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Male infertility	MIK: 21317160

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21317160	Male subfertility			33 (22 subfertile men, 11 fertile men)	Male subfertility	DFF40 Casp4 Casp 6 and TNFSF10
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881