CYP2A6
Cytochrome P450 Family 2 Subfamily A Member 6
Gene Information Card
| Symbol | CYP2A6 |
|---|---|
| Full Name | Cytochrome P450 Family 2 Subfamily A Member 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 1548 ncbi.nlm.nih.gov/gene/1548 |
| Ensembl ID | ENSG00000255974 |
| UniProt ID | P11509 |
| OMIM ID | 122720 |
| HGNC ID | 2610 |
| Aliases | CPA6, CYP2A, CYP2A3, P450C2A, P450PB |
Description
CYP2A6 encodes a member of the cytochrome P450 superfamily of enzymes, which are heme-thiolate monooxygenases involved in the metabolism of xenobiotics and endogenous compounds. This enzyme is primarily expressed in the liver and is responsible for the metabolism of nicotine, coumarin, and several pharmaceuticals, including tegafur and valproic acid. Genetic polymorphisms in CYP2A6 influence nicotine clearance rates, smoking behavior, and susceptibility to lung cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung Cancer | Altered nicotine metabolism affects tobacco exposure and carcinogen activation; reduced-activity variants decrease risk in smokers. | PMID: 15340336, ClinVar |
| Nicotine Dependence | Slow metabolizer variants reduce nicotine clearance, leading to lower smoking intensity and dependence. | PMID: 16912790, ClinVar |
| Coumarin 7-Hydroxylase Deficiency | Loss-of-function mutations impair coumarin metabolism, leading to reduced detoxification. | OMIM: 122720 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Adrenal Gland | 1.2 | Low |
| Kidney | 0.8 | Low |
| Lung | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 0.0 | Not expressed |
| HepaRG | 8.3 | Moderate expression |
| Primary Hepatocytes | 15.1 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| CYP2A6*2 (rs1801272) | Missense (L160H) | 1-3% in Caucasians | Loss of function; reduced enzyme activity |
| CYP2A6*4 | Gene deletion | 1-2% in Asians | Complete loss of function |
| CYP2A6*9 (rs28399433) | Promoter variant (TATA box) | 5-15% in Africans | Reduced expression; decreased activity |
| CYP2A6*12 | Multiple SNPs | <1% | Reduced activity |
Mutation functional classification
Loss of Function (LOF)
CYP2A6*2, *4, *9, *12 reduce or abolish enzyme activity, leading to slower nicotine metabolism and altered drug clearance.
Gain of Function (GOF)
No well-characterized gain-of-function variants reported.
Dominant Negative (DN)
Not described for CYP2A6.
View complete mutation data：
Gene Ontology (GO)
| • monooxygenase activity | • heme binding |
| • iron ion binding | • oxidoreductase activity |
| • coumarin 7-hydroxylase activity | • nicotine catabolic process |
| • xenobiotic metabolic process |
Pathways
• Nicotine metabolism
• Drug metabolism - cytochrome P450
• Chemical carcinogenesis
Protein Summary
CYP2A6 is a 494-amino acid microsomal cytochrome P450 enzyme with a heme-binding domain. It catalyzes the 7-hydroxylation of coumarin and the C-oxidation of nicotine to cotinine. The protein is predominantly expressed in the liver and exhibits extensive genetic polymorphism, affecting interindividual variability in drug metabolism and smoking behavior.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYP2A6 Knockout HEK293 Cell Line | EDJ-KQ3586 | Human | 1548 | Details Get a Quote |
| CYP2A6 Knockout HeLa Cell Line | EDJ-KQ53041 | Human | 1548 | Details Get a Quote |
| CYP2A6 Knockout A-549 Cell Line | EDJ-KQ61505 | Human | 1548 | Details Get a Quote |
| CYP2A6 Knockout HCT 116 Cell Line | EDJ-KQ69999 | Human | 1548 | Details Get a Quote |
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