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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 1.14.14.1 56
  • 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 Tobacco Addiction and Coumarin Resistance. Among its related pathways are superpathway of steroid hormone biosynthesis and superpathway of tryptophan utilization. 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 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

GeneHancer (GH) Regulatory Elements for CYP2A6 Gene

Promoters and enhancers for CYP2A6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I040850 Promoter 0.8 EPDnew 550.8 0.0 -20 0.1 RXRA TAF1 ZNF692 HNF4A CYP2A6 CYP2A7 ENSG00000268797
GH19I040848 Enhancer 0.5 ENCODE 556.2 +1.7 1676 0.2 CTCF ZBTB6 GLIS1 ZBTB33 RAD21 EZH2 CYP2A6 PIR37611 ENSG00000268797
GH19I040747 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 1.8 +97.7 97686 9.8 CLOCK MLX ZFP64 FEZF1 DMAP1 YBX1 YY1 ZNF213 E2F8 ZNF416 SNRPA C19orf54 HNRNPUL1 ENSG00000269843 CCDC97 COQ8B ZNF780A FBL AKT2 ZNF780B
GH19I040863 Enhancer 1.4 Ensembl ENCODE dbSUPER 0.4 -14.2 -14196 1.6 PKNOX1 ATF1 ARNT FEZF1 TCF12 ZNF121 KLF7 ATF7 NCOA1 TSHZ1 ZNF780B SPTBN4 ZNF546 CYP2F2P EGLN2 CYP2A6 CYP2A7 ENSG00000268797
GH19I040843 Enhancer 1.1 Ensembl ENCODE dbSUPER 0.4 +6.3 6315 1.9 HDAC1 BCOR HDGF KLF1 ZMYM3 BRD9 PRDM10 L3MBTL2 MTA2 ZNF645 ITPKC EGLN2 CYP2G1P CYP2B7P ENSG00000279108 PIR37611 CYP2A6 ENSG00000268797
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CYP2A6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CYP2A6 gene promoter:

Genomic Locations for CYP2A6 Gene

Genomic Locations for CYP2A6 Gene
chr19:40,843,538-40,850,447
(GRCh38/hg38)
Size:
6,910 bases
Orientation:
Minus strand
chr19:41,349,443-41,356,352
(GRCh37/hg19)

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:
    P11509-CP2A6_HUMAN
    Recommended name:
    Cytochrome P450 2A6
    Protein Accession:
    P11509
    Secondary Accessions:
    • A7YAE5
    • B2R7F6
    • P00190
    • P10890
    • Q16803
    • Q4VAT9
    • Q4VAU0
    • Q4VAU1
    • Q9H1Z7
    • Q9UCU0
    • Q9UK48

    Protein attributes for CYP2A6 Gene

    Size:
    494 amino acids
    Molecular mass:
    56501 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

P11509:
  • EIDRVIG
  • DFIAKKVE
  • IDPTFFLSRTVSNVISS
  • EEFSGRG
  • DKEFLSLLRMMLG
  • SVMKHLPG
  • LGPRRVVVL
  • LLLMKHP
  • PGPTPLP
  • NQRTLDPNSP
  • SPRDFID
  • AVIHEIQR
  • FIDSFLI
  • DRAKMPY
  • EALVDQAE
  • GERAKQL
  • PFSIGKR
  • GEGLARME
  • LPFIGNY
  • GKLPPGP
  • EERIQEE
  • TLRYGFLL

Post-translational modifications for CYP2A6 Gene

No Post-translational modifications

Other Protein References for CYP2A6 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for CYP2A6 Gene

Gene Families for CYP2A6 Gene

HGNC:
IUPHAR :
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

P11509

UniProtKB/Swiss-Prot:

CP2A6_HUMAN :
  • Belongs to the cytochrome P450 family.
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

COMPARTMENTS
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 1188
Letrozole Approved, Investigational Pharma Enzyme, substrate, inhibitor Non-steroidal aromatase inhibitor, Aromatase Inhibitors 424
Methoxsalen Approved Pharma Enzyme, substrate, inhibitor 39
Bupropion Approved Pharma Enzyme, substrate 344
Tegafur Approved, Investigational Pharma Enzyme, substrate 105

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
nadph
  • 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
53-57-6
Paraxanthine
  • 1,7-Dimethyl-Xanthine
  • 1,7-Dimethylxanthine
611-59-6
11,12,15-THETA
  • 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
81276-02-0
11,14,15-THETA
  • (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
CYP2A6
ECgene alternative splicing isoforms for
CYP2A6

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:

CYP2A6

SOURCE GeneReport for Unigene cluster for CYP2A6 Gene:

Hs.250615

mRNA Expression by UniProt/SwissProt for CYP2A6 Gene:

P11509-CP2A6_HUMAN
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
Systems:
  • cardiovascular
  • digestive
  • immune
  • lymphatic
Regions:
Thorax:
  • thymus
Abdomen:
  • liver
  • spleen
General:
  • 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
cow
(Bos Taurus)
Mammalia -- 34
  • 89 (a)
OneToMany
dog
(Canis familiaris)
Mammalia CYP2A13 34 34
  • 87 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Cyp2a5 33 34
  • 84.62 (n)
Cyp2a4 34
  • 84 (a)
ManyToMany
Cyp2a12 34
  • 71 (a)
ManyToMany
Cyp2a22 34
  • 71 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Cyp2a3 33
  • 84.35 (n)
chimpanzee
(Pan troglodytes)
Mammalia -- 34
  • 62 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 59 (a)
ManyToMany
-- 34
  • 59 (a)
ManyToMany
-- 34
  • 58 (a)
ManyToMany
-- 34
  • 53 (a)
ManyToMany
-- 34
  • 53 (a)
ManyToMany
-- 34
  • 53 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cyp2a6 33
  • 58.25 (n)
fruit fly
(Drosophila melanogaster)
Insecta Cyp303a1 35
  • 27 (a)
Cyp304a1 35
  • 26 (a)
worm
(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

ENSEMBL:
Gene Tree for CYP2A6 (if available)
TreeFam:
Gene Tree for CYP2A6 (if available)

Paralogs for CYP2A6 Gene

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

Variants for CYP2A6 Gene

Sequence variations from dbSNP and Humsavar for CYP2A6 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1801272 drug-response, Warfarin response, Nicotine, poor metabolism of 40,848,628(-) A/T coding_sequence_variant, missense_variant
rs28399447 drug-response, Tegafur response 40,847,036(-) A/C/G/T coding_sequence_variant, missense_variant
rs1000639781 -- 40,849,061(-) A/C intron_variant
rs1000975758 -- 40,851,324(-) C/T upstream_transcript_variant
rs1000991166 -- 40,846,651(-) T/C intron_variant

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)

Additional Variant Information for CYP2A6 Gene

Human Gene Mutation Database (HGMD)
CYP2A6
The Human Cytochrome P450 Allele Nomenclature Database
CYP2A6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYP2A6

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

Disorders for CYP2A6 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
tobacco addiction
  • tobacco addiction, susceptibility to
coumarin resistance
  • coumarin, poor metabolism of
lung cancer
  • lung cancer, susceptibility to
nasopharyngeal carcinoma 3
  • nasopharyngeal carcinoma, susceptibility to, 3
alcoholic liver cirrhosis
  • alcoholic cirrhosis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CYP2A6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 44 58
  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 44 58
  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 44 58
  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 44 58
  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 44 58

Products for CYP2A6 Gene

Sources for CYP2A6 Gene

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