Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	842
Gene name Gene Name - the full gene name approved by the HGNC.	Caspase 9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CASP9
Synonyms (NCBI Gene) Gene synonyms aliases	APAF-3, APAF3, ICE-LAP6, MCH6, PPP1R56
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p36.21
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(43)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001986	hsa-miR-133a-3p	Luciferase reporter assay	17715156
MIRT001986	hsa-miR-133a-3p	Luciferase reporter assay	17715156
MIRT001986	hsa-miR-133a-3p	Luciferase reporter assay	17715156
MIRT001986	hsa-miR-133a-3p	Luciferase reporter assay	17715156
MIRT001986	hsa-miR-133a-3p	Luciferase reporter assay	17715156
MIRT001986	hsa-miR-133a-3p	Luciferase reporter assay	17715156
MIRT001985	hsa-miR-133b	Luciferase reporter assay	17715156
MIRT001985	hsa-miR-133b	Luciferase reporter assay	17715156
MIRT001985	hsa-miR-133b	Luciferase reporter assay	17715156
MIRT001985	hsa-miR-133b	Luciferase reporter assay	17715156
MIRT001986	hsa-miR-133a-3p	Luciferase reporter assay	17715156
MIRT005294	hsa-let-7a-5p	Western blot	18758960
MIRT016408	hsa-miR-193b-3p	Microarray	20304954
MIRT025767	hsa-miR-7-5p	Microarray	19073608
MIRT029244	hsa-miR-26b-5p	Microarray	19088304
MIRT438728	hsa-miR-582-5p	and NCH441"	24805821
MIRT438728	hsa-miR-582-5p	and NCH441"	24805821
MIRT001986	hsa-miR-133a-3p	qRT-PCR	27425441
MIRT734897	hsa-miR-362-3p	Luciferase reporter assay, Western blotting, qRT-PCR	33459949
MIRT735256	hsa-miR-1271-3p	Microarray, qRT-PCR	32407273
MIRT756201	hsa-miR-107	Immunoprecipitaion (IP)	36816358
MIRT756320	hsa-miR-29b-1-5p	Western blotting	38934067
MIRT864244	hsa-miR-129-3p	CLIP-seq
MIRT864245	hsa-miR-224	CLIP-seq
MIRT864246	hsa-miR-3619-3p	CLIP-seq
MIRT864247	hsa-miR-3690	CLIP-seq
MIRT864248	hsa-miR-4308	CLIP-seq
MIRT864249	hsa-miR-4687-5p	CLIP-seq
MIRT864250	hsa-miR-4731-3p	CLIP-seq
MIRT864251	hsa-miR-4776-5p	CLIP-seq
MIRT864252	hsa-miR-4801	CLIP-seq
MIRT864253	hsa-miR-10a	CLIP-seq
MIRT864254	hsa-miR-10b	CLIP-seq
MIRT864255	hsa-miR-1276	CLIP-seq
MIRT864256	hsa-miR-2278	CLIP-seq
MIRT864257	hsa-miR-3919	CLIP-seq
MIRT864258	hsa-miR-4468	CLIP-seq
MIRT864259	hsa-miR-4725-5p	CLIP-seq
MIRT864260	hsa-miR-504	CLIP-seq
MIRT2193827	hsa-miR-3120-5p	CLIP-seq
MIRT864257	hsa-miR-3919	CLIP-seq
MIRT2193828	hsa-miR-4421	CLIP-seq
MIRT2193829	hsa-miR-668	CLIP-seq

Transcription factors

Show/Hide all(3)

Transcription factor	Regulation	Reference
FOS	Activation	20188076
NFKB1	Unknown	20056115
RELA	Unknown	20056115

Show/Hide all(69)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001666	Process	Response to hypoxia	IEA
GO:0001822	Process	Kidney development	IEA
GO:0002931	Process	Response to ischemia	IEA
GO:0004197	Function	Cysteine-type endopeptidase activity	IBA
GO:0004197	Function	Cysteine-type endopeptidase activity	IDA	16352606, 16916640, 16920334, 27889207
GO:0004197	Function	Cysteine-type endopeptidase activity	IEA
GO:0004197	Function	Cysteine-type endopeptidase activity	IMP	21980415
GO:0004197	Function	Cysteine-type endopeptidase activity	TAS	9390557
GO:0005515	Function	Protein binding	IPI	9922454, 10206961, 10376594, 11024045, 11069302, 11084335, 11350957, 11801603, 11821383, 12620238, 15657060, 16189514, 16537496, 16936772, 18022362, 18723680, 19153467, 19255499, 19494828, 19721007, 20462491, 21827945, 23516580, 25241761, 25416956, 25502805, 25519916, 27107012, 2999
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA	12782307
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	17167422
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006508	Process	Proteolysis	IEA
GO:0006915	Process	Apoptotic process	IBA
GO:0006915	Process	Apoptotic process	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006915	Process	Apoptotic process	IMP	15069058
GO:0006915	Process	Apoptotic process	TAS	8663294
GO:0006974	Process	DNA damage response	IDA	15657060
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IMP	15657060
GO:0008047	Function	Enzyme activator activity	TAS	9390557
GO:0008233	Function	Peptidase activity	IDA	19740745
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0008303	Component	Caspase complex	IPI	11734640
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IBA
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IMP	15657060
GO:0009411	Process	Response to UV	IEA
GO:0009411	Process	Response to UV	IEA
GO:0016485	Process	Protein processing	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019901	Function	Protein kinase binding	IDA	15657060
GO:0030220	Process	Platelet formation	TAS	18309324
GO:0032025	Process	Response to cobalt ion	IEA
GO:0032355	Process	Response to estradiol	IEA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0032991	Component	Protein-containing complex	IDA	11821383
GO:0034349	Process	Glial cell apoptotic process	IEA
GO:0034644	Process	Cellular response to UV	IDA	15657060
GO:0042770	Process	Signal transduction in response to DNA damage	IDA	15657060
GO:0042802	Function	Identical protein binding	IPI	15941357
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IMP	11821383
GO:0043293	Component	Apoptosome	IDA	21827945
GO:0043293	Component	Apoptosome	IPI	10206961
GO:0043525	Process	Positive regulation of neuron apoptotic process	IBA
GO:0043525	Process	Positive regulation of neuron apoptotic process	IEA
GO:0044346	Process	Fibroblast apoptotic process	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0051604	Process	Protein maturation	IDA	16352606, 16916640
GO:0051604	Process	Protein maturation	IEA
GO:0071549	Process	Cellular response to dexamethasone stimulus	IEA
GO:0071680	Process	Response to indole-3-methanol	IEA
GO:0071887	Process	Leukocyte apoptotic process	IEA
GO:0072347	Process	Response to anesthetic	IEA
GO:0097193	Process	Intrinsic apoptotic signaling pathway	IC	10206961
GO:0097193	Process	Intrinsic apoptotic signaling pathway	IDA	35446120
GO:0097193	Process	Intrinsic apoptotic signaling pathway	IMP	15565177
GO:0097193	Process	Intrinsic apoptotic signaling pathway	NAS	10206961
GO:1900119	Process	Positive regulation of execution phase of apoptosis	IDA	16916640
GO:1904019	Process	Epithelial cell apoptotic process	IEA

MIM	HGNC	e!Ensembl
602234	1511	ENSG00000132906

Protein

UniProt ID

P55211

Protein 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]

Protein function

Involved in the activation cascade of caspases responsible for apoptosis execution. Binding of caspase-9 to Apaf-1 leads to activation of the protease which then cleaves and activates effector caspases caspase-3 (CASP3) or caspase-7 (CASP7). Pro

PDB

1JXQ , 1NW9 , 2AR9 , 3D9T , 3V3K , 3YGS , 4RHW , 5JUY , 5WVC , 5WVE

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00619	CARD	6 → 92	Caspase recruitment domain	Domain
PF00656	Peptidase_C14	161 → 413		Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous, with highest expression in the heart, moderate expression in liver, skeletal muscle, and pancreas. Low levels in all other tissues. Within the heart, specifically expressed in myocytes. {ECO:0000269|PubMed:16857965}.

Sequence

MDEADRRLLRRCRLRLVEELQVDQLWDALLSRELFRPHMIEDIQRAGSGSRRDQARQLII
DLETRGSQALPLFISCLEDTGQDMLASFLRTNRQAAKLSKPTLENLTPVVLRPEIRKPEV
LRPETPRPVDIGSGGFGDVGALESLRGNADLAYILSMEPCGHCLIINNVNFCRESGLRTR
TGSNIDCEKLRRRFSSLHFMVEVKGDLTAKKMVLALLELAQQDHGALDCCVVVILSHGCQ
ASHLQFPGAVYGTDGCPVSVEKIVNIFNGTSCPSLGGKPKLFFIQACGGEQKDHGFEVAS
TSPEDESPGSNPEPDATPFQEGLRTFDQLDAISSLPTPSDIFVSYSTFPGFVSWRDPKSG
SWYVETLDDIFEQWAHSEDLQSLLLRVANAVSVKGIYKQMPGCFNFLRKKLFFKTS

Sequence length

416

Interactions

View interactions

	KEGG		Reactome
	Platinum drug resistance p53 signaling pathway PI3K-Akt signaling pathway Apoptosis Apoptosis - multiple species VEGF signaling pathway Thyroid hormone signaling pathway Alzheimer disease Parkinson disease Amyotrophic lateral sclerosis Huntington disease Prion disease Pathways of neurodegeneration - multiple diseases Pathogenic Escherichia coli infection Legionellosis Toxoplasmosis Tuberculosis Hepatitis C Hepatitis B Measles Human cytomegalovirus infection Influenza A Kaposi sarcoma-associated herpesvirus infection Herpes simplex virus 1 infection Epstein-Barr virus infection Human immunodeficiency virus 1 infection Pathways in cancer Colorectal cancer Pancreatic cancer Endometrial cancer Prostate cancer Small cell lung cancer Non-small cell lung cancer Viral myocarditis Lipid and atherosclerosis		Formation of apoptosome Activation of caspases through apoptosome-mediated cleavage NOD1/2 Signaling Pathway AKT phosphorylates targets in the cytosol Caspase activation via Dependence Receptors in the absence of ligand Constitutive Signaling by AKT1 E17K in Cancer Regulation of the apoptosome activity

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Gout	Gout	N/A	N/A	GWAS

Show/Hide Text Mining Associations (175)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma	Associate	22199128, 33935122
Adenocarcinoma of Lung	Associate	34869771
Adenoma	Stimulate	24592539
Agammaglobulinemia	Associate	25569260
Altitude Sickness	Associate	29176544
Arthritis Rheumatoid	Associate	20187936, 24920239, 32584515, 32692720
Ascites	Inhibit	29549251
Ataxia Telangiectasia	Associate	11382748
Autoimmune Diseases	Associate	25569260
Bacterial Infections	Stimulate	24223971
Brain Neoplasms	Associate	27935156
Breast Neoplasms	Associate	12644829, 16309219, 17121430, 18840411, 19245689, 19724676, 20453870, 21901386, 24402572, 25119466, 25374178, 25419573, 25703814, 27245202, 27270654 View all (18 more)
Breast Neoplasms	Stimulate	34360714
Burkitt Lymphoma	Associate	22131152, 25569260, 33325535
Calcinosis Cutis	Associate	21513580
Cap Myopathy	Associate	23475579
Carcinogenesis	Associate	20972326, 23303631, 24592539, 30886656, 36580018
Carcinoma Adenoid Cystic	Associate	27061543
Carcinoma Basal Cell	Associate	24927175
Carcinoma Hepatocellular	Associate	24969544, 27367026, 27509965, 28356025, 28453560, 28486557, 32862582, 33642822, 33776365, 34732665, 35127170
Carcinoma Non Small Cell Lung	Associate	11828291, 21045158, 21622622, 21801305, 23082969, 32337219, 33051435, 33562773
Carcinoma Ovarian Epithelial	Associate	30178832, 31210304
Carcinoma Pancreatic Ductal	Associate	34779408
Carcinoma Renal Cell	Associate	21082031, 35308143
Carcinoma Squamous Cell	Associate	28679648, 33896245
Cardiomyopathies	Associate	12907417
Cardiomyopathy Dilated	Associate	25888309
Cartilage Diseases	Associate	11779095
Cholangiocarcinoma	Associate	28662515, 35683032
Choriocarcinoma	Associate	27983929
Chronobiology Disorders	Associate	19940360
Colitis Ulcerative	Associate	31159239
Colonic Neoplasms	Associate	30088538
Colorectal Neoplasms	Associate	11514566, 23303631, 24592539, 25031754, 28423356, 28972559, 29801534, 31633448, 33878735, 35836259
COVID 19	Associate	40004007
Craniosynostoses	Stimulate	29847820
Crohn Disease	Stimulate	31159239
Crohn Disease	Associate	37658984
Death	Associate	11121041, 20332233, 22452992, 23640457
Diabetes Gestational	Associate	30125412
Diabetes Mellitus Insulin Dependent 19	Associate	24309190
Diabetic Nephropathies	Associate	27141571
Drug Related Side Effects and Adverse Reactions	Associate	18375382, 18603276, 24911215, 26229578, 30343279, 32711410
Drug Related Side Effects and Adverse Reactions	Stimulate	19684859, 20044605, 23152798, 31995555
Dysequilibrium syndrome	Associate	37052975
Endocarditis	Associate	20126625
Endometrial Neoplasms	Associate	28421904, 32407273, 37906351
Endometriosis	Associate	34746304
Epstein Barr Virus Infections	Stimulate	23534755
Epstein Barr Virus Infections	Associate	37839162
Esophageal Neoplasms	Associate	28407361, 37500660
Esophageal Squamous Cell Carcinoma	Associate	32071920
Fallopian Tube Diseases	Associate	34746304
Fatty Liver Alcoholic	Inhibit	22641094
Fever	Stimulate	25635828, 34066632
Fibrocartilaginous embolism	Associate	25561896, 30936926
Fuchs' Endothelial Dystrophy	Associate	20103053
Gastrointestinal Neoplasms	Associate	25031754
Glioblastoma	Associate	11772428, 15523899, 24805821, 28656196, 29236891, 30670698, 31390836, 32210117, 32504326, 35658846
Glioma	Associate	11870542, 15523899, 16319070, 18813792, 22406992, 22761708, 26748401, 27893811, 27935156, 28341638, 29164574, 36570001
Glioma	Inhibit	29316313
Glucose Intolerance	Stimulate	25121097
Glucosephosphate Dehydrogenase Deficiency	Stimulate	24223971
Glycogen Storage Disease Type II	Associate	24581426
Graft vs Host Disease	Associate	24753538, 26639404
Graves Disease	Associate	12930371
Hashimoto Disease	Associate	12930371
Head and Neck Neoplasms	Associate	28686330
Heart Failure	Associate	29847820
Hepatitis C	Associate	18802096
Hepatitis C	Stimulate	23256595
Hereditary Angioedema Type III	Associate	12244117
Hypertension	Associate	37451613
Hypoxia	Stimulate	11880298, 30816677
Hypoxia	Associate	17273772, 26464645, 32296107
Hypoxia Brain	Stimulate	15613236
Hypoxia Brain	Inhibit	19666348
Hypoxia Brain	Associate	22457823, 30137220
Idiopathic Interstitial Pneumonias	Associate	12480919
Immunologic Deficiency Syndromes	Associate	25569260
Infections	Associate	25404022
Infections	Stimulate	33207682, 36131109, 37227036
Inflammation	Associate	29694513, 30338821, 34140262
Intervertebral Disc Displacement	Associate	23141929
Iron Deficiencies	Inhibit	37087978
Kidney Diseases	Associate	27141571
Kidney Neoplasms	Associate	31424686
Laryngeal Neoplasms	Associate	26648189
Leukemia	Associate	20704577, 24260527, 24563336, 26692089, 31398407, 33924032
Leukemia Lymphocytic Chronic B Cell	Associate	12531792, 20628148
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	20704577, 22833150, 34673425
Leukemia Myeloid Acute	Associate	19652057, 24879622, 27907031, 35634845
Li Fraumeni Syndrome	Associate	27935156
Liver Neoplasms	Associate	29901131
Lung Neoplasms	Associate	18468406, 20661084, 22246162, 22665367, 26647102, 28099148, 29165042, 29565268, 33148075, 35898682, 37984526
Lupus Erythematosus Systemic	Stimulate	18507053
Lymphoma Large B Cell Diffuse	Associate	15576477
Lymphoma Non Hodgkin	Associate	19414860, 20855536, 23474846, 36580018
Lymphoma T Cell	Associate	28950914
Malformations of Cortical Development Group I	Associate	12522004, 19557855, 26354378, 28638870, 29070760, 32125086
Medulloblastoma	Associate	19887560
Melanoma	Associate	11067917, 23527236, 30866426, 36674631
Melanoma	Stimulate	11369232
Mesothelioma Malignant	Associate	18032822
Mitochondrial Diseases	Associate	19245689, 22994717, 25879420, 28441753, 29039440, 29207128, 29448246, 29721083, 30139961, 30320378
Mitochondrial Diseases	Stimulate	24255713, 32733636
Mitochondrial Diseases	Inhibit	29516570
Mouth Neoplasms	Associate	27827950, 34318593, 35268676
Mucopolysaccharidosis IV	Associate	37762422
Multiple Myeloma	Associate	12531793, 15070698, 15626742, 16487170, 17384201, 17910628, 18381704, 19362737, 28264449, 28270494, 31564190, 31918281, 36262053
Muscle Neoplasms	Associate	34705620
Nasopharyngeal Carcinoma	Associate	25337187, 30844723, 31566021, 31991751
Neonatal herpes	Inhibit	25005804
Neoplasm Metastasis	Stimulate	35651606
Neoplasms	Associate	11346470, 11870543, 12432271, 17014711, 17263886, 18381704, 18422753, 20371723, 20406824, 21078168, 21082031, 21436691, 21455217, 21622622, 22792212 View all (34 more)
Neoplasms	Inhibit	18439902, 23542236, 24592539, 32685475
Neoplasms	Stimulate	28700659
Neoplasms Glandular and Epithelial	Associate	23264211
Neoplasms Squamous Cell	Inhibit	30852977
Neural Tube Defects	Associate	29358613, 29365368
Neuroblastoma	Associate	11870543, 14617634, 14670183, 20044605, 26208481
Neutrophil Immunodeficiency Syndrome	Associate	24581426
NOG Related Symphalangism Spectrum Disorder	Associate	12651606
Non alcoholic Fatty Liver Disease	Associate	28216552, 37156902
Obesity	Associate	22836687, 40004007
Optic Atrophy	Associate	37946484
Osteosarcoma	Associate	31081055, 32075661, 33321940
Ovarian Neoplasms	Associate	22843880, 31043579, 31424650, 31913698, 31983100, 32502299
Ovarian Neoplasms	Inhibit	23542236
Pancreatic Neoplasms	Associate	14669326, 27721241, 27756327, 33020506
Pelvic Organ Prolapse	Associate	29230415
Penile Induration	Associate	25197653
Periapical Diseases	Associate	23264211
Philadelphia Chromosome	Associate	29542026
Polycystic Ovary Syndrome	Associate	33287836
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	15142883
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	37302808
Prostatic Hyperplasia	Associate	30295140, 37378942
Prostatic Neoplasms	Associate	28358701, 28737827, 32196578, 32341393, 37378942
Prostatic Neoplasms Castration Resistant	Associate	37047425
Prostatitis	Associate	26823840
Pulmonary Disease Chronic Obstructive	Associate	35027824
Purine Nucleoside Phosphorylase Deficiency	Stimulate	35641516
Purpura Thrombocytopenic Idiopathic	Associate	37291547
Recurrent respiratory papillomatosis	Associate	35012431
Respiratory Distress Syndrome	Associate	19635508
Retinal Dysplasia	Associate	37553330
Retinoblastoma	Associate	31038819
Sarcoma Ewing	Associate	25157404
Severe Acute Respiratory Syndrome	Associate	19635508
Sexual Dysfunction Physiological	Associate	24427328
Sleep Deprivation	Stimulate	21555338, 29313067
Smooth Muscle Tumor	Associate	22457823
Squamous Cell Carcinoma of Head and Neck	Associate	28700659, 31309556
Squamous Intraepithelial Lesions	Stimulate	21436691
Status Asthmaticus	Associate	34705620
Stomach Neoplasms	Associate	12174360, 22799335, 25031754, 25780290, 29960296, 30809951, 32736677, 35522909
Tachycardia Atrioventricular Nodal Reentry	Associate	15576477
Thrombocythemia Essential	Associate	29542026
Thymic epithelial tumor	Associate	22974165
Thymoma	Inhibit	22974165
Thyroid Neoplasms	Associate	26334619
Tongue Neoplasms	Associate	19414420
Triple Negative Breast Neoplasms	Associate	30886656, 34036395, 35056723, 37175458
Triple Negative Breast Neoplasms	Inhibit	37093683
Tuberculosis Multidrug Resistant	Associate	24805866
Urinary Bladder Neoplasms	Associate	23613234, 31769229, 32277642
Uterine Cervical Neoplasms	Associate	15197583, 31638249, 39707317, 40603406
Uterine Cervicitis	Associate	21436691
Varicocele	Associate	19666348
Varicocele	Stimulate	21868008
Vascular Diseases	Associate	27918592
Venous Insufficiency	Stimulate	29626597
Virus Diseases	Associate	15629772
Vomiting	Associate	28686330

CASP9 (caspase 9)