• Gene id: 842

Gene Summary

• Gene Symbol: CASP9   Gene   UCSC   Ensembl
• Aliases: APAF-3, APAF3, ICE-LAP6, MCH6, PPP1R56
• Gene name: caspase 9
• Alternate names: caspase-9, ICE-like apoptotic protease 6, apoptotic protease MCH-6, apoptotic protease activating factor 3, caspase 9, apoptosis-related cysteine peptidase, protein phosphatase 1, regulatory subunit 56,
• Gene location: 1p36.21 (15524911: 15491400)     Exons: 11     NC_000001.11
• Gene summary(Entrez): This gene encodes 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
• OMIM: 602234

SNPs

rs587777432

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000017.11   g.4744210_4744213AACA[1]
NC_000017.10   g.4647505_4647508AACA[1]
NG_034160.1   g.9196_9199AACA[1]
NM_001136046.3   c.1516_1519AACA[1]
NM_001136046.2   c.1516_1519AACA[1]
NM_032265.2   c.1399_1402AACA[1]
NM_001267822.1   c.1516_1519AACA[1]
XM_0170252  

rs1046512

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

NC_000003.12   g.36990805A>C
NC_000003.11   g.37032296A>C
NG_007109.2   g.2456A>C
NG_008418.1   g.7500T>G
NM_014805.4   c.*449T>G
NM_014805.3   c.*449T>G|SEQ=[A/C]|GENE=EPM2AIP1

rs2682826

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

NC_000012.12   g.117215033G>A
NC_000012.11   g.117652838G>A
NG_011991.2   g.151745C>T
NM_000620.5   c.*276C>T
NM_000620.4   c.*276C>T
NM_001204218.1   c.*276C>T
NM_001204213.1   c.*276C>T
NM_001204214.1   c.*276C>T|SEQ=[G/A]|GENE=NOS1

rs1047735

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

NC_000012.12   g.117247465G>A
NC_000012.11   g.117685270G>A
NG_011991.2   g.119313C>T
NM_000620.5   c.2706C>T
NM_000620.4   c.2706C>T
NM_001204218.1   c.2808C>T
NM_001204213.1   c.1698C>T
NM_001204214.1   c.1698C>T|SEQ=[G/A]|GENE=NOS1

Protein Summary

• Protein general information: P55211  
  • Name: Caspase 9 (CASP 9) (EC 3.4.22.62) (Apoptotic protease Mch 6) (Apoptotic protease activating factor 3) (APAF 3) (ICE like apoptotic protease 6) (ICE LAP6) [Cleaved into: Caspase 9 subunit p35; Caspase 9 subunit p10]
  • Length: 416  
  • Mass: 46,281
• Sequence:

  MDEADRRLLRRCRLRLVEELQVDQLWDALLSRELFRPHMIEDIQRAGSGSRRDQARQLIIDLETRGSQALPLFIS
  CLEDTGQDMLASFLRTNRQAAKLSKPTLENLTPVVLRPEIRKPEVLRPETPRPVDIGSGGFGDVGALESLRGNAD
  LAYILSMEPCGHCLIINNVNFCRESGLRTRTGSNIDCEKLRRRFSSLHFMVEVKGDLTAKKMVLALLELAQQDHG
  ALDCCVVVILSHGCQASHLQFPGAVYGTDGCPVSVEKIVNIFNGTSCPSLGGKPKLFFIQACGGEQKDHGFEVAS
  TSPEDESPGSNPEPDATPFQEGLRTFDQLDAISSLPTPSDIFVSYSTFPGFVSWRDPKSGSWYVETLDDIFEQWA
  HSEDLQSLLLRVANAVSVKGIYKQMPGCFNFLRKKLFFKTS

• Structural information:
  • Protein Domains: CARD. (1-92)
  • Interpro: IPR001315  IPR033171  IPR029030  IPR033139  IPR016129   IPR011029  IPR002138  IPR001309  IPR015917  
  • Prosite: PS50209 PS01122 PS01121 PS50207 PS50208
  • CDD: cd00032
  • PDB: 1JXQ 1NW9 2AR9 3D9T 3V3K 3YGS 4RHW 5JUY 5WVC 5WVE
  • PDBsum: 1JXQ 1NW9 2AR9 3D9T 3V3K 3YGS 4RHW 5JUY 5WVC 5WVE
  • DIP: 27625
  • STRING: ENSP00000330237
• Other Databases: GeneCards:  CASP9  Malacards:  CASP9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004197	cysteine-type endopeptidase activity	TAS	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: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:0005634	nucleus	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005829	cytosol	IDA	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:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006915	apoptotic process	TAS	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0007568	aging	IEA	biological process
GO:0008047	enzyme activator activity	TAS	molecular function
GO:0008233	peptidase activity	IDA	molecular function
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IMP	biological process
GO:0008635	activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c	TAS	biological process
GO:0017124	SH3 domain binding	IDA	molecular function
GO:0019901	protein kinase binding	IDA	molecular function
GO:0030220	platelet formation	TAS	biological process
GO:0032025	response to cobalt ion	IEA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0034349	glial cell apoptotic process	IEA	biological process
GO:0034644	cellular response to UV	IDA	biological process
GO:0042770	signal transduction in response to DNA damage	IDA	biological process
GO:0043293	apoptosome	IDA	cellular component
GO:0043525	positive regulation of neuron apoptotic process	IEA	biological process
GO:0046677	response to antibiotic	IEA	biological process
GO:0071549	cellular response to dexamethasone stimulus	IEA	biological process
GO:0097153	cysteine-type endopeptidase activity involved in apoptotic process	IBA	molecular function
GO:0097192	extrinsic apoptotic signaling pathway in absence of ligand	TAS	biological process
GO:2001020	regulation of response to DNA damage stimulus	IMP	biological process
GO:0004197	cysteine-type endopeptidase activity	IEA	molecular function
GO:0004197	cysteine-type endopeptidase activity	IEA	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: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: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:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005829	cytosol	IDA	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: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	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0006915	apoptotic process	TAS	biological process
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0007568	aging	IEA	biological process
GO:0008047	enzyme activator activity	TAS	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0008233	peptidase activity	IDA	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	IEA	molecular function
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IMP	biological process
GO:0008635	activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c	TAS	biological process
GO:0008635	activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c	TAS	biological process
GO:0009411	response to UV	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0017124	SH3 domain binding	IDA	molecular function
GO:0019901	protein kinase binding	IDA	molecular function
GO:0030220	platelet formation	TAS	biological process
GO:0032025	response to cobalt ion	IEA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0034349	glial cell apoptotic process	IEA	biological process
GO:0034644	cellular response to UV	IDA	biological process
GO:0042770	signal transduction in response to DNA damage	IDA	biological process
GO:0042981	regulation of apoptotic process	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0043293	apoptosome	IDA	cellular component
GO:0043525	positive regulation of neuron apoptotic process	IEA	biological process
GO:0046677	response to antibiotic	IEA	biological process
GO:0071407	cellular response to organic cyclic compound	IEA	biological process
GO:0071549	cellular response to dexamethasone stimulus	IEA	biological process
GO:0097153	cysteine-type endopeptidase activity involved in apoptotic process	IBA	molecular function
GO:0097192	extrinsic apoptotic signaling pathway in absence of ligand	TAS	biological process
GO:2001020	regulation of response to DNA damage stimulus	IMP	biological process
GO:0004197	cysteine-type endopeptidase activity	TAS	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: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:0005829	cytosol	IDA	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:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006915	apoptotic process	TAS	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0008047	enzyme activator activity	TAS	molecular function
GO:0008233	peptidase activity	IDA	molecular function
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IMP	biological process
GO:0008635	activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c	TAS	biological process
GO:0008635	activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c	TAS	biological process
GO:0017124	SH3 domain binding	IDA	molecular function
GO:0019901	protein kinase binding	IDA	molecular function
GO:0030220	platelet formation	TAS	biological process
GO:0034644	cellular response to UV	IDA	biological process
GO:0042770	signal transduction in response to DNA damage	IDA	biological process
GO:0043293	apoptosome	IDA	cellular component
GO:0097153	cysteine-type endopeptidase activity involved in apoptotic process	IBA	molecular function
GO:0097192	extrinsic apoptotic signaling pathway in absence of ligand	TAS	biological process
GO:2001020	regulation of response to DNA damage stimulus	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04151	PI3K-Akt signaling pathway
hsa04210	Apoptosis
hsa04215	Apoptosis - multiple species
hsa04115	p53 signaling pathway
hsa04919	Thyroid hormone signaling pathway
hsa05200	Pathways in cancer
hsa05210	Colorectal cancer
hsa05212	Pancreatic cancer
hsa05215	Prostate cancer
hsa05213	Endometrial cancer
hsa05222	Small cell lung cancer
hsa05223	Non-small cell lung cancer
hsa05010	Alzheimer disease
hsa05012	Parkinson disease
hsa05014	Amyotrophic lateral sclerosis
hsa05016	Huntington disease
hsa05416	Viral myocarditis
hsa05130	Pathogenic Escherichia coli infection
hsa05134	Legionellosis
hsa05152	Tuberculosis
hsa05170	Human immunodeficiency virus 1 infection
hsa05162	Measles
hsa05164	Influenza A
hsa05161	Hepatitis B
hsa05160	Hepatitis C
hsa05168	Herpes simplex virus 1 infection
hsa05163	Human cytomegalovirus infection
hsa05167	Kaposi sarcoma-associated herpesvirus infection
hsa05169	Epstein-Barr virus infection
hsa05145	Toxoplasmosis
hsa01524	Platinum drug resistance

Diseases

Associated diseases	References
Cancer	GAD: 17285546
Cancer (colorectal)	GAD: 19219602
Cancer (esophageal)	GAD: 20453000
Cancer (gastric)	GAD: 19269008
Cancer (prostate)	GAD: 20804486
Cancer (Adenocarcinoma)	GAD: 19052714
Cancer (bladder)	GAD: 19412632
Cancer (leukemia)	GAD: 19074885
Cancer (lung)	GAD: 16687442
Cancer (lymphoma)	GAD: 17071630
Cancer (myeloma)	GAD: 18381704
Cancer (pancreatic)	GAD: 20357690
Clubfoot	GAD: 17534194
Hodgkin disease	GAD: 19573080
Crohn's disease	GAD: 16181301
Multiple sclerosis	GAD: 19359048
Diabetes	GAD: 12732844
Autism	GAD: 19058789
Chronic renal failure	GAD: 21085059
Oligoasthenoteratozoospermia	MIK: 21868008
Sperm motility	MIK: 26064412
Varicocele	MIK: 19666348
Male factor infertility	MIK: 26064412
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 12969693
Oligoasthenoteratozoospermia	MIK: 21868008
Varicocoele	MIK: 21868008
Spermatogenic defects	MIK: 26064412
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583
Varicocele	MIK: 19666348

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
19666348	Varicocele			20 (10 patients with grade 3 left varicocele, 10 patients with left indirect inguinal hernia)	Male infertility	Bcl-2  Fas caspase-8 and caspase-9
26064412	Sperm motility, Male infertility		China	76 (19 asthenospermia, 20 oligoasthenoteratozoospermia, 17 azoospermia, 20 controls)	Male infertility
19062002	Varicocele, Male infertility			24 (8 infertile varicocele patients, 16 fertile volunteers)	Male infertility	PARP-1 poly(ADP-ribose) X-ray repair cross-complementing 1 and apurinic/apyrimidinic endonuclease 1] caspase 9 active caspase 3 and cleaved PARP-1
12969693	Male factor infertility			43 (35 patients with idiopathic infertility, 8 normal healthy donors)	Male infertility	cytochrome c caspases 9 and caspase 3
21868008	Oligoasthenoteratozoospermia, varicocoele, male infertility			80 (20 healthy fertile men, 25 men with oligoasthenoteratozoospermia, 35 men with oligoasthenoteratozoospermia with left-side varicocele )	Male infertility
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray