• Gene id: 835

Gene Summary

• Gene Symbol: CASP2   Gene   UCSC   Ensembl
• Aliases: CASP-2, ICH1, NEDD-2, NEDD2, PPP1R57
• Gene name: caspase 2
• Alternate names: caspase-2, caspase 2 apoptosis-related cysteine peptidase, neural precursor cell expressed developmentally down-regulated protein 2, protease ICH-1, protein phosphatase 1, regulatory subunit 57,
• Gene location: 7q34 (143288350: 143307695)     Exons: 5     NC_000007.14
• Gene summary(Entrez): This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Caspases mediate cellular apoptosis through the proteolytic cleavage of specific protein substrates. The encoded protein may function in stress-induced cell death pathways
• OMIM: 600639

SNPs

rs387907021

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

NC_000014.9   g.73689432A>G
NC_000014.8   g.74156135A>G
NG_028083.2   g.49558A>G
NG_028083.1   g.49558A>G
NM_031427.4   c.449A>G
NM_031427.3   c.449A>G
NM_001201366.1   c.332A>G
NM_001201366.2   c.332A>G
XM_017021679.2   c.332A>G
XM_024449715.1   c.332A>G
NP_113615.2   p.

Protein Summary

• Protein general information: P42575  
  • Name: Caspase 2 (CASP 2) (EC 3.4.22.55) (Neural precursor cell expressed developmentally down regulated protein 2) (NEDD 2) (Protease ICH 1) [Cleaved into: Caspase 2 subunit p18; Caspase 2 subunit p13; Caspase 2 subunit p12]
  • Length: 452  
  • Mass: 50685
  • Tissue specificity: Expressed at higher levels in the embryonic lung, liver and kidney than in the heart and brain. In adults, higher level expression is seen in the placenta, lung, kidney, and pancreas than in the heart, brain, liver and skeletal muscle.
• Sequence:

  MAAPSAGSWSTFQHKELMAADRGRRILGVCGMHPHHQETLKKNRVVLAKQLLLSELLEHLLEKDIITLEMRELIQ
  AKVGSFSQNVELLNLLPKRGPQAFDAFCEALRETKQGHLEDMLLTTLSGLQHVLPPLSCDYDLSLPFPVCESCPL
  YKKLRLSTDTVEHSLDNKDGPVCLQVKPCTPEFYQTHFQLAYRLQSRPRGLALVLSNVHFTGEKELEFRSGGDVD
  HSTLVTLFKLLGYDVHVLCDQTAQEMQEKLQNFAQLPAHRVTDSCIVALLSHGVEGAIYGVDGKLLQLQEVFQLF
  DNANCPSLQNKPKMFFIQACRGDETDRGVDQQDGKNHAGSPGCEESDAGKEKLPKMRLPTRSDMICGYACLKGTA
  AMRNTKRGSWYIEALAQVFSERACDMHVADMLVKVNALIKDREGYAPGTEFHRCKEMSEYCSTLCRHLYLFPGHP
  PT

• Structural information:
  • Protein Domains: (32..12-)
    (/note="CARD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00046"-)
  • Interpro: IPR001315  IPR029030  IPR035702  IPR033139  IPR016129   IPR011029  IPR002398  IPR002138  IPR001309  IPR015917  
  • Prosite: PS50209 PS01122 PS01121 PS50207 PS50208
  • CDD: cd00032
  • PDB: 1PYO 2P2C 3R5J 3R6G 3R6L 3R7B 3R7N 3R7S 3RJM 6GKF 6GKG 6S9K 6SAD
  • PDBsum: 1PYO 2P2C 3R5J 3R6G 3R6L 3R7B 3R7N 3R7S 3RJM 6GKF 6GKG 6S9K 6SAD
  • STRING: ENSP00000312664
• Other Databases: GeneCards:  CASP2  Malacards:  CASP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0097192	extrinsic apoptotic signaling pathway in absence of ligand	IBA	biological process
GO:0097153	cysteine-type endopeptidase activity involved in apoptotic process	IBA	molecular function
GO:0043065	positive regulation of apoptotic process	IBA	biological process
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IBA	biological process
GO:0006915	apoptotic process	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006508	proteolysis	IEA	biological process
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:0097200	cysteine-type endopeptidase activity involved in execution phase of apoptosis	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008233	peptidase 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: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:0042802	identical protein binding	IPI	molecular function
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:0042802	identical 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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003407	neural retina development	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0035234	ectopic germ cell programmed cell death	IEA	biological process
GO:0097190	apoptotic signaling pathway	IEA	biological process
GO:0001554	luteolysis	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0043525	positive regulation of neuron apoptotic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0097153	cysteine-type endopeptidase activity involved in apoptotic process	IEA	molecular function
GO:0097192	extrinsic apoptotic signaling pathway in absence of ligand	IEA	biological process
GO:2001235	positive regulation of apoptotic signaling pathway	IEA	biological process
GO:0004197	cysteine-type endopeptidase activity	IDA	molecular function
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0016485	protein processing	IDA	biological process
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:0004197	cysteine-type endopeptidase activity	IDA	molecular function
GO:0004197	cysteine-type endopeptidase activity	IDA	molecular function
GO:0004197	cysteine-type endopeptidase activity	NAS	molecular function
GO:0043066	negative regulation of apoptotic process	NAS	biological process
GO:0097194	execution phase of apoptosis	TAS	biological process
GO:0071260	cellular response to mechanical stimulus	IEP	biological process
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	TAS	biological process
GO:0006915	apoptotic process	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0097190	apoptotic signaling pathway	TAS	biological process
GO:0006977	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	IMP	biological process
GO:0019899	enzyme binding	ISS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04210	Apoptosis

Diseases

Associated diseases	References
Alzheimer's disease	PMID:12633148
Temporal lobe epilepsy	PMID:17627033
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray