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... See more...

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 2A6 3 4
  • Cytochrome P450(I) 3 4
  • CYPIIA6 3 4
  • CYP2A3 3 4
  • CYP2A 2 3
  • CPA6 2 3
  • Flavoprotein-Linked Monooxygenase 3
  • Xenobiotic Monooxygenase 3
  • EC 50
  • EC 1.14.13.- 4
  • P450C2A 3
  • P450PB 3
  • CYP2A6 5

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 Coumarin Resistance and Tobacco Addiction. Among its related pathways are Lamotrigine Pathway, Pharmacokinetics and Pharmacodynamics and Naphthalene metabolism. Gene Ontology (GO) annotations related to this gene include enzyme binding and heme binding. An important paralog of this gene is CYP2A7.

UniProtKB/Swiss-Prot Summary 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

No data available for CIViC Summary , Tocris Summary , Rfam classification and piRNA Summary for CYP2A6 Gene

Genomics for CYP2A6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CYP2A6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CYP2A6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CYP2A6

Top Transcription factor binding sites by QIAGEN in the CYP2A6 gene promoter:
  • AML1a
  • AREB6
  • En-1
  • MRF-2
  • USF-1
  • USF-1:USF-2
  • USF1
  • USF2

Genomic Locations for CYP2A6 Gene

Latest Assembly
6,907 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
6,907 bases
Minus strand

(GRCh37/hg19 by Ensembl)
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:
    56517 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 intracellular proteins

Protein Domains for CYP2A6 Gene

  • E-class P450 group I signature
  • CYP2A P450 family signature

Suggested Antigen Peptide Sequences for CYP2A6 Gene

GenScript: Design optimal peptide antigens:
  • Cytochrome P450(I) (CP2A6_HUMAN)

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

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 CatalyticActivity:
Reaction=1,4-cineole + O2 + reduced [NADPH--hemoprotein reductase] = 2-exo-hydroxy-1,4-cineole + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:49160, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:80788, ChEBI:CHEBI:90956; Evidence={ECO:0000269|PubMed:11695850};.
UniProtKB/Swiss-Prot Induction:
By phenobarbital and dexamethasone.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.23 uM for coumarin {ECO:0000269|PubMed:16086027}; KM=530 uM for 1,4-cineole {ECO:0000269|PubMed:11695850}; Vmax=3.5 nmol/min/nmol enzyme toward 1,4-cineole {ECO:0000269|PubMed:11695850};
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

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:0004497 monooxygenase activity IEA --
GO:0005506 iron ion binding IEA --
GO:0008389 coumarin 7-hydroxylase activity IDA 16086027
GO:0008392 arachidonic acid epoxygenase activity IBA 21873635
GO:0008395 steroid hydroxylase activity IBA 21873635
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

miRNA for CYP2A6 Gene

miRTarBase miRNAs that target CYP2A6

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP2A6

No data available for Animal Models , 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
plasma membrane 2
extracellular 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
peroxisome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for CYP2A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005881 cytoplasmic microtubule IDA 23264731
GO:0016020 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:0006082 organic acid metabolic process IBA 21873635
GO:0006805 xenobiotic metabolic process IBA 21873635
GO:0008202 steroid metabolic process IMP 18356043
GO:0009804 coumarin metabolic process TAS --
GO:0017144 drug metabolic process IMP 18356043
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nicotine Approved Pharma Enzyme, substrate, inhibitor 1617
Letrozole Approved, Investigational Pharma Enzyme, substrate, inhibitor Non-steroidal aromatase inhibitor, Aromatase Inhibitors 568
Methoxsalen Approved Pharma Enzyme, inhibitor 49
Tegafur Approved, Investigational Pharma Enzyme, substrate 136
Chlorzoxazone Approved Pharma Enzyme, substrate 8

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 3,7-Dihydro-1,7-dimethyl-1H-purine-2,6-dione
  • p-Xanthine
  • 1,7-Dimethyl-xanthine
  • 1,7-Dimethylxanthine
  • 11,12,15-Trihydroxyicosatrienoic acid
  • (5Z,8Z,13E)-(15S)-11,12,15-Trihydroxyeicosa-5,8,12-trienoic acid
  • (5Z,8Z,13E)-(15S)-11,12,15-Trihydroxyicosa-5,8,12-trienoic acid
  • 11,12,15-Trihydroxyicosatrienoate
  • (5Z,8Z,13E)-(15S)-11,12,15-Trihydroxyeicosa-5,8,12-trienoate
11,12-Epoxyeicosatrienoic acid
  • (11S,12R)-EpETrE
  • (11S,12R)-Epoxy-(5Z,8Z,14Z)-eicosatrienoic acid
  • (11S,12R)-Epoxy-(5Z,8Z,14Z)-icosatrienoic acid
  • 11(S),12(R)-EET
  • 11(S),12(R)-EpETrE
  • (5Z,8Z,12E)-11,14,15-Trihydroxyeicosa-5,8,12-trienoic acid
  • (5Z,8Z,12E)-11,14,15-Trihydroxyeicosatrienoic acid
  • (5Z,8Z,12E)-11,14,15-Trihydroxyicosatrienoic acid
  • 11,14,15-Trihydroxy-(5Z,8Z,12E)-eicosatrienoic acid
  • 11,14,15-Trihydroxy-5Z,8Z,12E-eicosatrienoic acid
  • 11-Hydroxy-14,15-eeta
  • 11-Hydroxy-14,15-epoxyeicosatrienoic acid
  • (5Z,8Z,12E)-14,15-Epoxy-11-hydroxyeicosa-5,8,12-trienoic acid
  • (5Z,8Z,12E)-14,15-Epoxy-11-hydroxyicosa-5,8,12-trienoic acid
  • 11-Hydroxy-14,15-epoxyeicosatrienoate

(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 for research

Transcripts for CYP2A6 Gene

mRNA/cDNA for CYP2A6 Gene

14 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP2A6

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

No ASD Table

Relevant External Links for CYP2A6 Gene

GeneLoc Exon Structure for

Expression for CYP2A6 Gene

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

Protein tissue co-expression partners for CYP2A6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CYP2A6

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)
  • Urine(2.4)
  • Blood(2.3)

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

Primer products for research

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 -- 30
  • 89 (a)
(Canis familiaris)
Mammalia CYP2A13 30 30
  • 89 (a)
(Mus musculus)
Mammalia Cyp2a5 29 30
  • 84.62 (n)
Cyp2a4 30
  • 84 (a)
Cyp2a12 30
  • 71 (a)
Cyp2a22 30
  • 71 (a)
(Rattus norvegicus)
Mammalia Cyp2a3 29
  • 84.35 (n)
(Pan troglodytes)
Mammalia -- 30
  • 62 (a)
(Anolis carolinensis)
Reptilia -- 30
  • 59 (a)
-- 30
  • 59 (a)
-- 30
  • 58 (a)
-- 30
  • 53 (a)
-- 30
  • 53 (a)
-- 30
  • 53 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cyp2a6 29
  • 58.25 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Cyp303a1 31
  • 27 (a)
Cyp304a1 31
  • 26 (a)
(Caenorhabditis elegans)
Secernentea cyp-36A1 29
  • 43.08 (n)
C50H11.15 31
  • 33 (a)
K09A11.3 31
  • 33 (a)
C34B7.3 31
  • 32 (a)
C49C8.4 31
  • 32 (a)
F41B5.3 31
  • 32 (a)
K05D4.4 31
  • 32 (a)
K09A11.2 31
  • 32 (a)
K09A11.4 31
  • 32 (a)
F42A9.5 31
  • 31 (a)
R08F11.3 31
  • 31 (a)
T10H4.10 31
  • 31 (a)
T10H4.11 31
  • 31 (a)
B0213.11 31
  • 30 (a)
B0213.15 31
  • 30 (a)
C45H4.17 31
  • 30 (a)
F41B5.4 31
  • 30 (a)
F44C8.1 31
  • 30 (a)
K07C6.2 31
  • 30 (a)
K07C6.3 31
  • 30 (a)
B0213.12 31
  • 30 (a)
B0213.16 31
  • 30 (a)
B0213.14 31
  • 29 (a)
B0304.3 31
  • 29 (a)
C03G6.15 31
  • 29 (a)
C49G7.8 31
  • 29 (a)
F14H3.10 31
  • 29 (a)
F41B5.2 31
  • 29 (a)
F41B5.7 31
  • 29 (a)
K07C6.5 31
  • 29 (a)
B0213.10 31
  • 28 (a)
K09D9.2 31
  • 28 (a)
C03G6.14 31
  • 27 (a)
C25E10.2 31
  • 27 (a)
C41G6.1 31
  • 26 (a)
T09H2.1 31
  • 26 (a)
Species where no ortholog for CYP2A6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Evolutionary constrained regions (ECRs) for CYP2A6: view image
Alliance of Genome Resources:
Additional Orthologs for CYP2A6

Paralogs for CYP2A6 Gene

(25) SIMAP similar genes for CYP2A6 Gene using alignment to 2 proteins:

  • M0R2Z4_HUMAN
genes like me logo Genes that share paralogs with CYP2A6: view

Variants for CYP2A6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CYP2A6 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs143336165 Benign: not provided 40,844,695(-) G/A
NM_000762.6(CYP2A6):c.1239C>T (p.Pro413=)
rs1801272 Drug Response: Warfarin response; Nicotine, poor metabolism of 40,848,628(-) A/Tp.Leu160His
NM_000762.5(CYP2A6):c.479T>A (p.Leu160His)
rs28399447 Drug Response: Tegafur response 40,847,036(-) A/Gp.Ser224Pro
NM_000762.5(CYP2A6):c.670T>C (p.Ser224Pro)
rs28399463 Benign: not provided 40,844,682(-) T/Cp.Asn418Asp
NM_000762.6(CYP2A6):c.1252A>G (p.Asn418Asp)
rs571335587 Likely Benign: not provided 40,848,304(-) C/A
NM_000762.6(CYP2A6):c.569G>T (p.Arg190Leu)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CYP2A6 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

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

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)

Additional Variant Information for CYP2A6 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for CYP2A6 Gene

MalaCards: The human disease database

(15) MalaCards diseases for CYP2A6 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
coumarin resistance
  • coumarin, poor metabolism of
tobacco addiction
  • tobacco addiction, susceptibility to
lung cancer
  • lung cancer, susceptibility to
letrozole toxicity
alcoholic liver cirrhosis
  • alcoholic cirrhosis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CYP2A6

Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 40
  2. A genetic polymorphism in coumarin 7-hydroxylation: sequence of the human CYP2A genes and identification of variant CYP2A6 alleles. (PMID: 7668294) Fernandez-Salguero P … Idle JR (American journal of human genetics 1995) 2 3 22 72
  3. The CYP2A3 gene product catalyzes coumarin 7-hydroxylation in human liver microsomes. (PMID: 2322567) Yamano S … Gonzalez FJ (Biochemistry 1990) 3 4 22 72
  4. The influence of cytochrome oxidase CYP2A6, CYP2B6, and CYP2C9 polymorphisms on the plasma concentrations of valproic acid in epileptic patients. (PMID: 20089352) Tan L … Yu Y (Clinical neurology and neurosurgery 2010) 3 22 40
  5. 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 40

Products for CYP2A6 Gene

Sources for CYP2A6 Gene