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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CASP9
caspase 9
Chromosome 1 · 1p36.21
NCBI Gene: 842Ensembl: ENSG00000132906.18HGNC: HGNC:1511UniProt: F8VVS7
463PubMed Papers
20Diseases
2Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
ApoptosisHub GeneProtease
RESEARCH IMPACT
Highly Studied
CLINICAL
Clinical Trials
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cysteine-type endopeptidase activityprotein bindingpeptidase activityprotein kinase bindingneurodegenerative diseasegoutnon-small cell lung carcinomahepatocellular carcinoma
✦AI Summary

CASP9 (caspase-9) is a cysteine protease that functions as an initiator caspase in the intrinsic apoptotic pathway 1. Upon apoptotic stimuli, mitochondria release cytochrome c, which binds to Apaf-1 alongside dATP to form the apoptosome complex that recruits and activates caspase-9 1. Activated caspase-9 then cleaves downstream executioner caspases (caspase-3, -6, and -7), initiating the caspase cascade that executes programmed cell death 1. Caspase-9 can also be activated through the extrinsic pathway when caspase-8 cleaves the Bcl-2 family member Bid, triggering mitochondrial cytochrome c release 2. Functionally, caspase-9 is essential for apoptosis during central nervous system development, as homozygous caspase-9 null mice exhibit perinatal lethality with enlarged and malformed cerebra due to reduced developmental apoptosis 1. Therapeutically, caspase-9 has been engineered as an inducible safety switch for T-cell therapies by fusing it to FK506 binding protein domains, enabling selective elimination of transduced cells via dimerizer drug 3. CASP9 polymorphisms show associations with cancer susceptibility; specifically, rs4645981 and rs1052571 variants correlate with increased overall cancer risk 4, while inhibition of miR-182-5p upregulates CASP9 expression to induce apoptosis in breast cancer cells 5.

Sources cited
1
Caspase-9 is recruited by the apoptosome complex formed by cytochrome c, Apaf-1, and dATP; cleaves downstream caspases; is essential for developmental apoptosis in the central nervous system
PMID: 10687948
2
Caspase-9 is activated through the intrinsic mitochondrial pathway when caspase-8 cleaves Bid, leading to cytochrome c release and executioner caspase activation
PMID: 10963881
3
Inducible caspase-9 fused to FK506 binding protein can be used as a conditional safety switch in T-cell therapy to selectively eliminate transduced cells
PMID: 15728125
4
CASP9 polymorphisms rs4645981 and rs1052571 are associated with increased overall cancer risk across multiple studies
PMID: 34463927
5
CASP9 acts as an initiator caspase in the mitochondrial cell death pathway and is upregulated when miR-182-5p is inhibited, inducing apoptosis in breast cancer cells
PMID: 28084318
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.48Moderate
goutOpen Targets
0.40Moderate
non-small cell lung carcinomaOpen Targets
0.20Weak
hepatocellular carcinomaOpen Targets
0.20Weak
acute myeloid leukemiaOpen Targets
0.19Weak
gastric carcinomaOpen Targets
0.19Weak
clear cell renal carcinomaOpen Targets
0.19Weak
small cell lung carcinomaOpen Targets
0.19Weak
head and neck squamous cell carcinomaOpen Targets
0.19Weak
chronic lymphocytic leukemiaOpen Targets
0.19Weak
urinary bladder carcinomaOpen Targets
0.19Weak
melanomaOpen Targets
0.19Weak
breast carcinomaOpen Targets
0.19Weak
esophageal squamous cell carcinomaOpen Targets
0.19Weak
lung adenocarcinomaOpen Targets
0.19Weak
skin basal cell carcinomaOpen Targets
0.19Weak
multiple myelomaOpen Targets
0.19Weak
lung carcinomaOpen Targets
0.19Weak
esophageal adenocarcinomaOpen Targets
0.19Weak
bladder transitional cell carcinomaOpen Targets
0.19Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets2
EMRICASANPhase II
Caspase inhibitor
Hepatic fibrosis
NIVOCASANPhase II
Caspase-1 inhibitor
fibrosis
Related Genes
PARP4Protein interaction100%ENDOGProtein interaction100%NAIPProtein interaction100%UACAProtein interaction100%CASP7Protein interaction100%JUNProtein interaction100%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
38%
Heart
30%
Liver
27%
Lung
22%
Brain
14%
Gene Interaction Network
Click a node to explore
CASP9PARP4ENDOGNAIPUACACASP7JUN
PROTEIN STRUCTURE
Preparing viewer…
PDB3D9T · 1.50 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.99LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.73 [0.54–0.99]
RankingsWhere CASP9 stands among ~20K protein-coding genes
  • #581of 20,598
    Most Researched463 · top 5%
  • #9,563of 17,882
    Most Constrained (LOEUF)0.99
Genes detectedCASP9
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Determination of Caspase Activation by Western Blot.
PMID: 34033089
Methods Mol Biol · 2021
1.00
2
An inducible caspase 9 safety switch for T-cell therapy.
PMID: 15728125
Blood · 2005
0.90
3
Relationship Between CASP9 and CASP10 Gene Polymorphisms and Cancer Susceptibility: Evidence from an Updated Meta-analysis.
PMID: 34463927
Appl Biochem Biotechnol · 2021
0.80
4
Caspase-9.
PMID: 10687948
Int J Biochem Cell Biol · 2000
0.70
5
CASP9 (caspase 9) is essential for autophagosome maturation through regulation of mitochondrial homeostasis.
PMID: 31818185
Autophagy · 2020
0.64