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50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CYP2C9
cytochrome P450 family 2 subfamily C member 9
Chromosome 10 · 10q23.33
NCBI Gene: 1559Ensembl: ENSG00000138109.12HGNC: HGNC:2623UniProt: P11712
971PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Highly Studied
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
monooxygenase activityarachidonate epoxygenase activitysteroid hydroxylase activityoxidoreductase activitycholesterol embolismresponse to anticoagulantAbnormality of the skeletal systemplacenta praevia
✦AI Summary

CYP2C9 is a hepatic cytochrome P450 monooxygenase that catalyzes the metabolism of endogenous substrates and xenobiotics. Mechanistically, it inserts one oxygen atom into substrates while reducing the second to water, utilizing electrons from NADPH via cytochrome P450 reductase 1. The enzyme performs diverse oxidative transformations including epoxidation of polyunsaturated fatty acids, cholesterol hydroxylation to 25-hydroxycholesterol for cholesterol homeostasis regulation, and metabolizes drugs such as warfarin and tolbutamide 2. CYP2C9 genetic polymorphisms significantly impact drug pharmacokinetics and disease risk. Common variants like CYP2C9*2 and *3 show reduced catalytic activity, requiring dose adjustments for warfarin and other substrates 3. Gene polymorphisms affect inter-individual variability in drug metabolism, with 28 of 38 tested variants exhibiting decreased clearance for azilsartan, while pathogenic missense variants compromise protein stability 45. Environmental exposures can modulate CYP2C9 expression; bisphenol A upregulates the enzyme via estrogen receptor α, potentially affecting drug metabolism homeostasis 6. Drug-drug-gene interactions further complicate therapy, as inhibitors like pterostilbene can suppress CYP2C9 activity, increasing substrate exposure 7. These findings underscore the importance of pharmacogenetic testing for precision medicine approaches.

Sources cited
1
CYP2C9 uses molecular oxygen with NADPH-dependent electron transfer for monooxygenase activity
PMID: 12865317
2
CYP2C9 metabolizes cholesterol to 25-hydroxycholesterol regulating cellular cholesterol homeostasis
PMID: 21576599
3
CYP2C9 polymorphisms (*2, *3) affect warfarin dose requirements in patients
PMID: 32583677
4
CYP2C9 variants show variable catalytic clearance with 28 of 38 variants exhibiting decreased clearance
PMID: 39316645
5
Pathogenic CYP2C9 missense variants decrease protein stability and affect drug metabolism
PMID: 37747773
6
Bisphenol A upregulates CYP2C9 expression via estrogen receptor alpha signaling
PMID: 27273787
7
Pterostilbene inhibits CYP2C9 metabolic activity with IC50 of 0.12±0.04 μM
PMID: 33849700
Disease Associationsⓘ20
cholesterol embolismOpen Targets
0.49Moderate
response to anticoagulantOpen Targets
0.41Moderate
Abnormality of the skeletal systemOpen Targets
0.23Weak
placenta praeviaOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
head and neck squamous cell carcinomaOpen Targets
0.08Suggestive
hypertensionOpen Targets
0.08Suggestive
BlindnessOpen Targets
0.08Suggestive
HypoglycemiaOpen Targets
0.07Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
PTEN hamartoma tumor syndromeOpen Targets
0.06Suggestive
epilepsyOpen Targets
0.06Suggestive
jaw diseaseOpen Targets
0.06Suggestive
COVID-19Open Targets
0.05Suggestive
type 2 diabetes mellitusOpen Targets
0.05Suggestive
coronary artery diseaseOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
colorectal cancerOpen Targets
0.04Suggestive
atrial fibrillationOpen Targets
0.04Suggestive
stomach diseaseOpen Targets
0.04Suggestive
Pathogenic Variants1
NM_000771.4(CYP2C9):c.622T>G (p.Leu208Val)Pathogenic
Warfarin response
☆☆☆☆2001→ Residue 208
View on ClinVar ↗
Related Genes
UGT1A8Protein interaction98%UGT1A1Protein interaction97%UGT1A7Protein interaction97%UGT1A10Protein interaction97%GGCXProtein interaction97%CYP2J2Protein interaction97%
Tissue Expression6 tissues
Liver
100%
Lung
0%
Brain
0%
Ovary
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CYP2C9UGT1A8UGT1A1UGT1A7UGT1A10GGCXCYP2J2
PROTEIN STRUCTURE
Preparing viewer…
PDB1R9O · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.61LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.27 [1.01–1.61]
RankingsWhere CYP2C9 stands among ~20K protein-coding genes
  • #170of 20,598
    Most Researched971 · top 1%
  • #4,604of 5,498
    Most Pathogenic Variants1
  • #15,699of 17,882
    Most Constrained (LOEUF)1.61
Genes detectedCYP2C9
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
Effects of CYP2C19, CYP2C9 and CYP3A4 gene polymorphisms on plasma voriconazole levels in Chinese pediatric patients.
PMID: 35081606
Pharmacogenet Genomics · 2022
1.00
2
Cytochrome P450 2C9-CYP2C9.
PMID: 20150829
Pharmacogenet Genomics · 2010
0.90
3
Distribution of polymorphisms in the CYP2C9 gene and CYP2C19/CYP2C9 haplotypes among Venezuelan populations.
PMID: 27230833
Ann Hum Biol · 2017
0.84
4
[Pharmacogenetics].
PMID: 18951351
Praxis (Bern 1994) · 2008
0.80
5
CYP2C9 gene and susceptibility to major depressive disorder.
PMID: 14583800
Pharmacogenomics J · 2003
0.78