Gene Gene information from NCBI Gene database.
Entrez ID 842
Gene name Caspase 9
Gene symbol CASP9
Synonyms (NCBI Gene)
APAF-3APAF3ICE-LAP6MCH6PPP1R56
Chromosome 1
Chromosome location 1p36.21
Summary 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
miRNA miRNA information provided by mirtarbase database.
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
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
FOS Activation 20188076
NFKB1 Unknown 20056115
RELA Unknown 20056115
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602234 1511 ENSG00000132906
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 416
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BRAIN ISCHEMIA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CASP9-related disorder Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute monocytic leukemia Monocytic Leukemia BEFREE 30774430
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 27984487, 31671079
★☆☆☆☆
Found in Text Mining only
Acute Undifferentiated Leukemia Leukemia BEFREE 25248926
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 11801602, 16689829
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 20453000
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 16689829, 21505894, 28285961
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 18056177
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 19887560
★☆☆☆☆
Found in Text Mining only
Agammaglobulinemia Agammaglobulinemia Pubtator 25569260 Associate
★☆☆☆☆
Found in Text Mining only
Aggressive Periodontitis Aggressive Periodontitis BEFREE 30311940
★☆☆☆☆
Found in Text Mining only