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Aliases for CYP2A6 Gene

Aliases for CYP2A6 Gene

  • Cytochrome P450 Family 2 Subfamily A Member 6 2 3 5
  • Cytochrome P450, Subfamily IIA (Phenobarbital-Inducible), Polypeptide 6 2 3
  • Cytochrome P450, Family 2, Subfamily A, Polypeptide 6 2 3
  • 1,4-Cineole 2-Exo-Monooxygenase 3 4
  • Coumarin 7-Hydroxylase 3 4
  • Cytochrome P450 IIA3 3 4
  • Cytochrome P450(I) 3 4
  • CYPIIA6 3 4
  • CYP2A3 3 4
  • Flavoprotein-Linked Monooxygenase 3
  • Xenobiotic Monooxygenase 3
  • Cytochrome P450 2A6 3
  • EC 58
  • EC 1.14.13.- 4
  • P450C2A 3
  • P450PB 3
  • CYP2A 3
  • CPA6 3

External Ids for CYP2A6 Gene

Previous HGNC Symbols for CYP2A6 Gene

  • CYP2A3

Previous GeneCards Identifiers for CYP2A6 Gene

  • GC19M041988
  • GC19M041741
  • GC19M046001
  • GC19M046017
  • GC19M046019
  • GC19M046041
  • GC19M041351
  • GC19M041352

Summaries for CYP2A6 Gene

Entrez Gene Summary for CYP2A6 Gene

  • This gene, CYP2A6, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to hydroxylate coumarin, and also metabolizes nicotine, aflatoxin B1, nitrosamines, and some pharmaceuticals. Individuals with certain allelic variants are said to have a poor metabolizer phenotype, meaning they do not efficiently metabolize coumarin or nicotine. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. The gene was formerly referred to as CYP2A3; however, it has been renamed CYP2A6. [provided by RefSeq, Jul 2008]

GeneCards Summary for CYP2A6 Gene

CYP2A6 (Cytochrome P450 Family 2 Subfamily A Member 6) is a Protein Coding gene. Diseases associated with CYP2A6 include Nicotine Dependence, Protection Against and Coumarin Resistance. Among its related pathways are acetone degradation I (to methylglyoxal) and Metabolism. GO annotations related to this gene include enzyme binding and heme binding. An important paralog of this gene is CYP2A13.

UniProtKB/Swiss-Prot for CYP2A6 Gene

  • Exhibits a high coumarin 7-hydroxylase activity. Can act in the hydroxylation of the anti-cancer drugs cyclophosphamide and ifosphamide. Competent in the metabolic activation of aflatoxin B1. Constitutes the major nicotine C-oxidase. Acts as a 1,4-cineole 2-exo-monooxygenase. Possesses low phenacetin O-deethylation activity.

Gene Wiki entry for CYP2A6 Gene

PharmGKB "VIP" Summary for CYP2A6 Gene

Additional gene information for CYP2A6 Gene

No data available for CIViC summary , Tocris Summary , fRNAdb sequence ontologies and piRNA Summary for CYP2A6 Gene

Genomics for CYP2A6 Gene

Regulatory Elements for CYP2A6 Gene

Enhancers for CYP2A6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19H040848 0.5 ENCODE 6.2 +1.7 1677 0.2 CTCF GLIS1 ZBTB33 RAD21 CYP2A6 PIR37611
GH19H040863 1.5 Ensembl ENCODE dbSUPER 0.4 -14.2 -14197 1.6 PKNOX1 ATF1 ARNT FEZF1 TCF12 ZNF121 KLF7 ATF7 NCOA1 TSHZ1 ZNF780B SPTBN4 ZNF546 CYP2F2P EGLN2 CYP2A6 CYP2A7
GH19H040862 1.1 ENCODE dbSUPER 0.4 -12.7 -12689 1 ZNF493 NFRKB ZNF133 ZNF23 ZNF366 ZSCAN5C SCRT2 ZNF416 KLF7 ZNF280D SNRPA HNRNPUL1 ENSG00000269843 CCDC97 ZNF780B PSMC4 ITPKC AKT2 ZNF546 CYP2G1P
GH19H040875 1.3 Ensembl ENCODE dbSUPER 0.3 -25.3 -25254 1.4 KLF1 ZFHX2 POLR2A ZNF366 PATZ1 KLF7 PRDM10 KLF8 SP3 MAZ CYP2G1P CYP2B7P CYP2A7 CYP2A6
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CYP2A6 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CYP2A6 Gene

Genomic Locations for CYP2A6 Gene
6,910 bases
Minus strand

Genomic View for CYP2A6 Gene

Genes around CYP2A6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP2A6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYP2A6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP2A6 Gene

Proteins for CYP2A6 Gene

  • Protein details for CYP2A6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Cytochrome P450 2A6
    Protein Accession:
    Secondary Accessions:
    • A7YAE5
    • B2R7F6
    • P00190
    • P10890
    • Q16803
    • Q4VAT9
    • Q4VAU0
    • Q4VAU1
    • Q9H1Z7
    • Q9UCU0
    • Q9UK48

    Protein attributes for CYP2A6 Gene

    494 amino acids
    Molecular mass:
    56501 Da
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available
    • Sequence=AAA52147.1; Type=Miscellaneous discrepancy; Note=Numerous conflicts and frameshifts.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CYP2A6 Gene

neXtProt entry for CYP2A6 Gene

Selected DME Specific Peptides for CYP2A6 Gene


Post-translational modifications for CYP2A6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP2A6 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for CYP2A6 Gene

Gene Families for CYP2A6 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for CYP2A6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the cytochrome P450 family.
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP2A6: view

Function for CYP2A6 Gene

Molecular function for CYP2A6 Gene

GENATLAS Biochemistry:
cytochrome P450,subfamily IIA (phenobarbital-inducible),polypeptide 6,major nicotine c oxidase,involved in nicotine elimination,susceptibility factor for nicotine addiction and lung cancer,reduced by gene deletion,deleted in the poor metabolizer phenotype
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.23 uM for coumarin {ECO:0000269 PubMed:11695850, ECO:0000269 PubMed:16086027}; KM=530 uM for 1,4-cineole {ECO:0000269 PubMed:11695850, ECO:0000269 PubMed:16086027}; Vmax=3.5 nmol/min/nmol enzyme toward 2-exo-hydroxy-1,4-cineole {ECO:0000269 PubMed:11695850, ECO:0000269 PubMed:16086027};
UniProtKB/Swiss-Prot CatalyticActivity:
1,4-cineole + NADPH + O(2) = 2-exo-hydroxy-1,4-cineole + NADP(+) + H(2)O.
UniProtKB/Swiss-Prot Function:
Exhibits a high coumarin 7-hydroxylase activity. Can act in the hydroxylation of the anti-cancer drugs cyclophosphamide and ifosphamide. Competent in the metabolic activation of aflatoxin B1. Constitutes the major nicotine C-oxidase. Acts as a 1,4-cineole 2-exo-monooxygenase. Possesses low phenacetin O-deethylation activity.
UniProtKB/Swiss-Prot Induction:
By phenobarbital and dexamethasone.

Enzyme Numbers (IUBMB) for CYP2A6 Gene

Phenotypes From GWAS Catalog for CYP2A6 Gene

Gene Ontology (GO) - Molecular Function for CYP2A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005506 iron ion binding IEA --
GO:0008389 coumarin 7-hydroxylase activity TAS --
GO:0008392 arachidonic acid epoxygenase activity IBA --
GO:0008395 steroid hydroxylase activity IBA --
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with CYP2A6: view
genes like me logo Genes that share phenotypes with CYP2A6: view

Human Phenotype Ontology for CYP2A6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CYP2A6 Gene

Localization for CYP2A6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP2A6 Gene

Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYP2A6 gene
Compartment Confidence
cytoskeleton 5
endoplasmic reticulum 5
nucleus 2
cytosol 2

Gene Ontology (GO) - Cellular Components for CYP2A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005881 cytoplasmic microtubule IDA 23264731
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CYP2A6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CYP2A6 Gene

Pathways & Interactions for CYP2A6 Gene

genes like me logo Genes that share pathways with CYP2A6: view

Gene Ontology (GO) - Biological Process for CYP2A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008202 steroid metabolic process IMP 18356043
GO:0009804 coumarin metabolic process TAS --
GO:0017144 drug metabolic process IMP 18356043
GO:0019373 epoxygenase P450 pathway IBA --
GO:0042738 exogenous drug catabolic process IDA 15680923
genes like me logo Genes that share ontologies with CYP2A6: view

No data available for SIGNOR curated interactions for CYP2A6 Gene

Drugs & Compounds for CYP2A6 Gene

(172) Drugs for CYP2A6 Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nicotine Approved Pharma Antagonist, Enzyme, substrate, inhibitor 1148
Letrozole Approved, Investigational Pharma Enzyme, substrate, inhibitor Non-steroidal aromatase inhibitor, Aromatase Inhibitors 413
Lidocaine Approved, Vet_approved Pharma Antagonist, Pore Blocker, Enzyme, substrate Anasthetic and class Ib antiarrhythmic agent 1382
Methoxsalen Approved Pharma Enzyme, substrate, inhibitor 39
Bupropion Approved Pharma Enzyme, substrate 337

(100) Additional Compounds for CYP2A6 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
  • 1,7-Dimethyl-Xanthine
  • 1,7-Dimethylxanthine
  • 11,12,15-TriHETRE
  • 11,12,15-Trihydroxyicosatrienoate
  • 11,12,15-Trihydroxyicosatrienoic acid
  • 11,12,15S-Trihydroxy-5Z,8Z,13E-eicosatrienoate
  • 11,12,15S-Trihydroxy-5Z,8Z,13E-eicosatrienoic acid
11,12-Epoxyeicosatrienoic acid
  • (5Z,8Z,14Z)-11,12-Epoxyeicosa-5,8,14-trienoate
  • (5Z,8Z,14Z)-11,12-Epoxyeicosa-5,8,14-trienoic acid
  • (5Z,8Z,14Z)-11,12-Epoxyicosa-5,8,14-trienoate
  • (5Z,8Z,14Z)-11,12-Epoxyicosa-5,8,14-trienoic acid
  • 10-(3-(2-Octenyl)oxiranyl)-5,8-Decadienoate
  • (5Z,8Z,12E)-11,14,15-Trihydroxyeicosa-5,8,12-trienoate
  • (5Z,8Z,12E)-11,14,15-Trihydroxyeicosa-5,8,12-trienoic acid
  • (5Z,8Z,12E)-11,14,15-Trihydroxyicosa-5,8,12-trienoate
  • (5Z,8Z,12E)-11,14,15-Trihydroxyicosa-5,8,12-trienoic acid
  • 11,14,15-Trihydroxy-5Z,8Z,12E-eicosatrienoate

(3) ApexBio Compounds for CYP2A6 Gene

Compound Action Cas Number
ABT 1614-12-6
Gemfibrozil 25812-30-0
Pentoxyresorufin 87687-03-4
genes like me logo Genes that share compounds with CYP2A6: view

Drug Products

Transcripts for CYP2A6 Gene

Unigene Clusters for CYP2A6 Gene

Cytochrome P450, family 2, subfamily A, polypeptide 6:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYP2A6 Gene

No ASD Table

Relevant External Links for CYP2A6 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CYP2A6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CYP2A6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYP2A6 Gene

This gene is overexpressed in Liver (x52.2).

Protein differential expression in normal tissues from HIPED for CYP2A6 Gene

This gene is overexpressed in Gallbladder (51.5), Liver (10.9), and Nasal epithelium (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CYP2A6 Gene

Protein tissue co-expression partners for CYP2A6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CYP2A6 Gene:


SOURCE GeneReport for Unigene cluster for CYP2A6 Gene:


mRNA Expression by UniProt/SwissProt for CYP2A6 Gene:

Tissue specificity: Liver.

Evidence on tissue expression from TISSUES for CYP2A6 Gene

  • Liver(4.6)
  • Lung(2)
  • Urine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CYP2A6 Gene

Germ Layers:
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • lymphatic
  • thymus
  • liver
  • spleen
  • blood
  • bone marrow
  • coagulation system
  • red blood cell
  • white blood cell
genes like me logo Genes that share expression patterns with CYP2A6: view

Orthologs for CYP2A6 Gene

This gene was present in the common ancestor of animals.

Orthologs for CYP2A6 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia -- 34
  • 89 (a)
(Canis familiaris)
Mammalia CYP2A13 34 34
  • 87 (a)
(Mus musculus)
Mammalia Cyp2a5 33 34
  • 84.62 (n)
Cyp2a4 34
  • 84 (a)
Cyp2a12 34
  • 71 (a)
Cyp2a22 34
  • 71 (a)
(Rattus norvegicus)
Mammalia Cyp2a3 33
  • 84.35 (n)
(Pan troglodytes)
Mammalia -- 34
  • 62 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 59 (a)
-- 34
  • 59 (a)
-- 34
  • 58 (a)
-- 34
  • 53 (a)
-- 34
  • 53 (a)
-- 34
  • 53 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cyp2a6 33
  • 58.25 (n)
fruit fly
(Drosophila melanogaster)
Insecta Cyp303a1 35
  • 27 (a)
Cyp304a1 35
  • 26 (a)
(Caenorhabditis elegans)
Secernentea cyp-36A1 33
  • 43.08 (n)
C50H11.15 35
  • 33 (a)
K09A11.3 35
  • 33 (a)
C34B7.3 35
  • 32 (a)
C49C8.4 35
  • 32 (a)
F41B5.3 35
  • 32 (a)
K05D4.4 35
  • 32 (a)
K09A11.2 35
  • 32 (a)
K09A11.4 35
  • 32 (a)
F42A9.5 35
  • 31 (a)
R08F11.3 35
  • 31 (a)
T10H4.10 35
  • 31 (a)
T10H4.11 35
  • 31 (a)
B0213.11 35
  • 30 (a)
B0213.12 35
  • 30 (a)
B0213.15 35
  • 30 (a)
B0213.16 35
  • 30 (a)
C45H4.17 35
  • 30 (a)
F41B5.4 35
  • 30 (a)
F44C8.1 35
  • 30 (a)
K07C6.2 35
  • 30 (a)
K07C6.3 35
  • 30 (a)
B0213.14 35
  • 29 (a)
B0304.3 35
  • 29 (a)
C03G6.15 35
  • 29 (a)
C49G7.8 35
  • 29 (a)
F14H3.10 35
  • 29 (a)
F41B5.2 35
  • 29 (a)
F41B5.7 35
  • 29 (a)
K07C6.5 35
  • 29 (a)
B0213.10 35
  • 28 (a)
K09D9.2 35
  • 28 (a)
C03G6.14 35
  • 27 (a)
C25E10.2 35
  • 27 (a)
C41G6.1 35
  • 26 (a)
T09H2.1 35
  • 26 (a)
Species where no ortholog for CYP2A6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for CYP2A6 Gene

Gene Tree for CYP2A6 (if available)
Gene Tree for CYP2A6 (if available)

Paralogs for CYP2A6 Gene

Variants for CYP2A6 Gene

Sequence variations from dbSNP and Humsavar for CYP2A6 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs111033610 drug-response 40,847,036(-) TGTTC(C/T)CTTCG reference, missense
rs1801272 drug-response 40,848,628(-) CGCCC(A/T)CCGGG reference, missense
rs28399447 drug-response 40,847,036(-) TGTTC(C/T)CTTCG reference, missense
rs1000639781 -- 40,849,061(+) GAGAG(A/C)GAGAG intron-variant
rs1000975758 -- 40,851,324(+) TGTCC(C/T)AAGGG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for CYP2A6 Gene

Variant ID Type Subtype PubMed ID
nsv9729 CNV loss 18304495
nsv963049 CNV duplication 23825009
nsv961220 CNV duplication 23825009
nsv953577 CNV duplication 24416366
nsv817836 CNV gain+loss 17921354
nsv579545 CNV gain 21841781
nsv579537 CNV gain 21841781
nsv579525 CNV loss 21841781
nsv516972 CNV loss 19592680
nsv482219 CNV gain 20164927
nsv476952 CNV novel sequence insertion 20440878
nsv442765 CNV gain+loss 18776908
nsv438302 CNV loss 16468122
nsv436743 CNV insertion 17901297
nsv435697 CNV deletion 17901297
nsv433318 CNV loss 18776910
nsv2490 CNV insertion 18451855
nsv1160624 CNV deletion 26073780
nsv1160623 CNV deletion 26073780
nsv1125310 OTHER inversion 24896259
nsv1066637 CNV gain 25217958
nsv1065886 CNV loss 25217958
nsv1061439 CNV gain 25217958
nsv1056244 CNV gain 25217958
esv3893207 CNV loss 25118596
esv3893206 CNV gain+loss 25118596
esv3893205 CNV loss 25118596
esv3893203 CNV gain+loss 25118596
esv3893202 CNV gain+loss 25118596
esv3644363 CNV gain 21293372
esv3644362 CNV loss 21293372
esv3644361 CNV loss 21293372
esv3584737 CNV loss 24956385
esv3556401 CNV deletion 23714750
esv33053 CNV gain 17666407
esv2763010 CNV gain+loss 21179565
esv2760509 CNV gain+loss 21179565
esv2758762 CNV gain+loss 17122850
esv2718568 CNV deletion 23290073
esv21610 CNV gain+loss 19812545
dgv6448n54 CNV gain+loss 21841781
dgv6447n54 CNV loss 21841781
dgv6446n54 CNV loss 21841781
dgv6445n54 CNV loss 21841781
dgv6444n54 CNV loss 21841781
dgv6443n54 CNV loss 21841781
dgv6442n54 CNV loss 21841781
dgv643e199 CNV deletion 23128226
dgv642e199 CNV deletion 23128226
dgv588n67 CNV loss 20364138
dgv522e201 CNV deletion 23290073
dgv3540n100 CNV gain 25217958
dgv3539n100 CNV loss 25217958
dgv3538n100 CNV loss 25217958
dgv3537n100 CNV loss 25217958
dgv3536n100 CNV gain+loss 25217958
dgv3535n100 CNV gain+loss 25217958
dgv3534n100 CNV loss 25217958
dgv3533n100 CNV gain+loss 25217958
dgv3532n100 CNV gain 25217958
dgv3531n100 CNV loss 25217958
dgv142n111 CNV deletion 26073780
dgv1049e212 CNV loss 25503493
dgv1048e212 CNV loss 25503493
dgv1047e212 CNV loss 25503493
dgv1046e212 CNV gain 25503493
dgv1045e212 CNV gain 25503493
dgv1044e212 CNV loss 25503493

Variation tolerance for CYP2A6 Gene

Residual Variation Intolerance Score: 98% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.08; 60.95% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CYP2A6 Gene

Human Gene Mutation Database (HGMD)
The Human Cytochrome P450 Allele Nomenclature Database
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP2A6 Gene

Disorders for CYP2A6 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CYP2A6 Gene - From: HGMD, OMIM, ClinVar, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
nicotine dependence, protection against
  • nicotine dependence
coumarin resistance
  • warfarin sensitivity
lung cancer
  • lung cancer, protection against
alcoholic liver cirrhosis
  • alcoholic cirrhosis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CYP2A6

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CYP2A6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CYP2A6 Gene

Publications for CYP2A6 Gene

  1. Novel and established CYP2A6 alleles impair in vivo nicotine metabolism in a population of Black African descent. (PMID: 18360915) Mwenifumbo JC … Tyndale RF (Human mutation 2008) 3 4 22 45 60
  2. Hepatic CYP2A6 levels and nicotine metabolism: impact of genetic, physiological, environmental, and epigenetic factors. (PMID: 20012030) Al Koudsi N … Tyndale RF (European journal of clinical pharmacology 2010) 3 22 45 60
  3. Pharmacogenomics of CYP2A6, CYP2B6, CYP2C19, CYP2D6, CYP3A4, CYP3A5 and MDR1 in Vietnam. (PMID: 18979093) Veiga MI … Gil JP (European journal of clinical pharmacology 2009) 3 22 45 60
  4. CYP2A6 genotypes and coumarin-oxidation phenotypes in a Thai population and their relationship to tobacco smoking. (PMID: 19082995) Mahavorasirikul W … Na-Bangchang K (European journal of clinical pharmacology 2009) 3 22 45 60
  5. Association of nicotine metabolite ratio and CYP2A6 genotype with smoking cessation treatment in African-American light smokers. (PMID: 19279561) Ho MK … Tyndale RF (Clinical pharmacology and therapeutics 2009) 3 22 45 60

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