HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CYP2A6
cytochrome P450 family 2 subfamily A member 6
Chromosome 19 · 19q13.2
NCBI Gene: 1548Ensembl: ENSG00000255974.9HGNC: HGNC:2610UniProt: P11509
318PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
coumarin catabolic processheme bindingxenobiotic metabolic processsteroid metabolic processcholesterol embolismbronchus cancerlung cancercoffee consumption
✦AI Summary

CYP2A6 is a polymorphic cytochrome P450 enzyme that plays a critical role in xenobiotic metabolism, serving as the major nicotine C-oxidase responsible for nicotine metabolism to cotinine in humans 1. The enzyme exhibits high coumarin 7-hydroxylase activity and metabolizes various substances including anti-cancer drugs cyclophosphamide and ifosphamide, and can activate procarcinogens such as aflatoxin B1 1. CYP2A6 also metabolizes polychlorinated biphenyls (PCBs), producing hydroxylated metabolites that may contribute to toxicity and carcinogenesis 23. The enzyme demonstrates significant genetic polymorphism with multiple allelic variants including deletion alleles (CYP2A6*4A, CYP2A6*4D) and point mutations (CYP2A6*7, CYP2A6*10) that substantially alter enzymatic activity 45. Genetic variations in CYP2A6 have important clinical implications, affecting nicotine metabolism rates and potentially influencing smoking behavior and tobacco-related disease risk 6. The enzyme shows complex interactions with other cytochrome P450 enzymes like CYP2B6, which can compensate for reduced CYP2A6 activity in nicotine metabolism 7. These pharmacogenetic variations make CYP2A6 an important consideration for personalized medicine approaches in smoking cessation and drug metabolism assessment 8.

Sources cited
1
CYP2A6 is the major nicotine C-oxidase and metabolizes various xenobiotics including anti-cancer drugs
PMID: 15734728
2
CYP2A6 metabolizes PCB congeners to hydroxylated metabolites with potential genotoxic effects
PMID: 39136732
3
CYP2A6 atropselectively metabolizes polychlorinated biphenyls to hydroxylated metabolites
PMID: 30576102
4
Multiple CYP2A6 allelic variants exist including deletion alleles and novel polymorphisms
PMID: 15225612
5
Genetic polymorphisms like CYP2A6*7 and CYP2A6*10 cause impaired nicotine metabolism
PMID: 12445030
6
CYP2A6 genetic variants correlate with severity of coronary atherosclerosis in smokers
PMID: 36123879
7
Gene-gene interactions exist between CYP2A6 and CYP2B6 in nicotine metabolism
PMID: 18004205
8
CYP2A6 genetic variation has clinical significance for drug efficacy and safety
PMID: 39051767
Disease Associationsⓘ20
cholesterol embolismOpen Targets
0.33Weak
bronchus cancerOpen Targets
0.21Weak
lung cancerOpen Targets
0.18Weak
coffee consumptionOpen Targets
0.17Weak
respiratory system cancerOpen Targets
0.16Weak
lung carcinomaOpen Targets
0.16Weak
pneumoniaOpen Targets
0.15Weak
atherosclerosisOpen Targets
0.15Weak
invasive mechanical ventilationOpen Targets
0.15Weak
asphyxiaOpen Targets
0.14Weak
HypoxemiaOpen Targets
0.14Weak
chronic lung diseaseOpen Targets
0.14Weak
smoking behaviorOpen Targets
0.14Weak
emphysemaOpen Targets
0.14Weak
smoking cessationOpen Targets
0.13Weak
chronic obstructive pulmonary diseaseOpen Targets
0.13Weak
chronic bronchitisOpen Targets
0.13Weak
lung adenocarcinomaOpen Targets
0.12Weak
secondary malignant neoplasmOpen Targets
0.12Weak
nicotine dependenceOpen Targets
0.12Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DPYDProtein interaction100%UGT1A4Protein interaction98%UGT1A8Protein interaction98%UGT1A1Protein interaction97%UGT1A7Protein interaction97%UGT1A10Protein interaction97%
Tissue Expression6 tissues
Liver
100%
Brain
0%
Ovary
0%
Lung
0%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
CYP2A6DPYDUGT1A4UGT1A8UGT1A1UGT1A7UGT1A10
PROTEIN STRUCTURE
Preparing viewer…
PDB2FDV · 1.65 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.88LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.64 [0.47–0.88]
RankingsWhere CYP2A6 stands among ~20K protein-coding genes
  • #1,054of 20,598
    Most Researched318 · top 10%
  • #7,802of 17,882
    Most Constrained (LOEUF)0.88
Genes detectedCYP2A6
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Metabolism and disposition kinetics of nicotine.
PMID: 15734728
Pharmacol Rev · 2005
1.00
2
PharmVar GeneFocus: CYP2A6.
PMID: 39051767
Clin Pharmacol Ther · 2024
0.90
3
Metabolic activation of WHO-congeners PCB28, 52, and 101 by human CYP2A6: evidence from in vitro and in vivo experiments.
PMID: 39136732
Arch Toxicol · 2024
0.80
4
Human CYP2A6, CYP2B6, AND CYP2E1 Atropselectively Metabolize Polychlorinated Biphenyls to Hydroxylated Metabolites.
PMID: 30576102
Environ Sci Technol · 2019
0.70
5
Gene-gene interactions of CYP2A6 and MAOA polymorphisms on smoking behavior in Chinese male population.
PMID: 19415821
Pharmacogenet Genomics · 2009
0.68