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CYP2A6 Gene

protein-coding   GIFtS: 68
GCID: GC19M041352

Cytochrome P450, Family 2, Subfamily A, Polypeptide 6

(Previous names: cytochrome P450, subfamily IIA (phenobarbital-inducible),...)
(Previous symbol: CYP2A3)
  See CYP2A6-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cytochrome P450, Family 2, Subfamily A, Polypeptide 61 2     P450C2A2 5
CYP2A31 2 3 5     CPA62
Cytochrome P450, Subfamily IIA (Phenobarbital-Inducible), Polypeptide 61 2     P450PB2
Coumarin 7-Hydroxylase2 3     Cytochrome P450 2A62
Cytochrome P450 IIA32 3     Flavoprotein-Linked Monooxygenase2
Cytochrome P450(I)2 3     Xenobiotic Monooxygenase2
1,4-Cineole 2-Exo-Monooxygenase2 3     EC 1.14.13.-3
CYPIIA62 3     EC 1.14.14.18
CYP2A2 5     

External Ids:    HGNC: 26101   Entrez Gene: 15482   Ensembl: ENSG000002559747   OMIM: 1227205   UniProtKB: P115093   

Export aliases for CYP2A6 gene to outside databases

Previous GC identifers: GC19M041988 GC19M041741 GC19M046001 GC19M046017 GC19M046019 GC19M046041 GC19M041351


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, polypeptide 6) is a protein-coding gene. Diseases associated with CYP2A6 include lung cancer, and coumarin resistance. GO annotations related to this gene include iron ion binding and enzyme binding. An important paralog of this gene is CYP2W1.

UniProtKB/Swiss-Prot: CP2A6_HUMAN, P11509
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

Gene Wiki entry for CYP2A6 Gene

PharmGKB "VIP" summary for CYP2A6


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the CYP2A6 gene promoter:
         AREB6   USF1   AML1a   USF-1   USF2   USF-1:USF-2   MRF-2   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCYP2A6 promoter sequence
   Search Chromatin IP Primers for CYP2A6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CYP2A6


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.2   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.2

CYP2A6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP2A6 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M041352:  view genomic region     (about GC identifiers)

Start:
41,349,443 bp from pter      End:
41,356,352 bp from pter
Size:
6,910 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CP2A6_HUMAN, P11509 (See protein sequence)
Recommended Name: Cytochrome P450 2A6  
Size: 494 amino acids; 56501 Da
Cofactor: Heme group
Sequence caution: Sequence=AAA52147.1; Type=Miscellaneous discrepancy; Note=Numerous conflicts and frameshifts;
Selected PDB 3D structures from and Proteopedia for CYP2A6 (see all 10):
1Z10 (3D)        1Z11 (3D)        2FDU (3D)        2FDV (3D)        2FDW (3D)        2FDY (3D)    
Secondary accessions: A7YAE5 B2R7F6 P00190 P10890 Q16803 Q4VAT9 Q4VAU0 Q4VAU1 Q9H1Z7 Q9UCU0
Q9UK48

Explore the universe of human proteins at neXtProt for CYP2A6: NX_P11509

Explore proteomics data for CYP2A6 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CYP2A6 (P11509) (see all 22)
     DRAKMPY  GKLPPGP  PGPTPLP  LLLMKHP 


    See CYP2A6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000753.3  
    ENSEMBL proteins: 
     ENSP00000301141   ENSP00000472905  
    Reactome Protein details: P11509

    CYP2A6 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CYP: Cytochrome P450s

    IUPHAR Guide to PHARMACOLOGY protein family classification: CYP2A6
    CYP2 family

    4 InterPro protein domains:
     IPR001128 Cyt_P450
     IPR017972 Cyt_P450_CS
     IPR002401 Cyt_P450_E_grp-I
     IPR008067 Cyt_P450_E_grp-I_CYP2A-like

    Graphical View of Domain Structure for InterPro Entry P11509

    ProtoNet protein and cluster: P11509

    2 Blocks protein domains:
    IPB002401 E-class P450 group I signature
    IPB008067 CYP2A P450 family signature


    UniProtKB/Swiss-Prot: CP2A6_HUMAN, P11509
    Similarity: Belongs to the cytochrome P450 family


    Find genes that share domains with CYP2A6           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CP2A6_HUMAN, P11509
    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
    Catalytic activity: 1,4-cineole + NADPH + O(2) = 2-exo-hydroxy-1,4-cineole + NADP(+) + H(2)O
    Biophysicochemical properties: Kinetic parameters: KM=0.23 uM for coumarin; KM=530 uM for 1,4-cineole; Vmax=3.5
    nmol/min/nmol enzyme toward 2-exo-hydroxy-1,4-cineole;
    Induction: By phenobarbital and dexamethasone

         Genatlas biochemistry entry for CYP2A6:
    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): EC 1.14.14.12 EC 1.14.13.-1

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005506iron ion binding IEA--
    GO:0008389coumarin 7-hydroxylase activity IDA16086027
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ----
    GO:0016712oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen IEA--
    GO:0019899enzyme binding IPI15680923
         
    Find genes that share ontologies with CYP2A6           About GenesLikeMe


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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CP2A6_HUMAN, P11509: Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral
    membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    endoplasmic reticulum5
    cytosol2
    golgi apparatus2
    nucleus2
    extracellular1
    mitochondrion1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005881cytoplasmic microtubule IDA--

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    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CYP2A6 About   (see all 17)  
    See pathways by source

    SuperPathContained pathways About
    1Cytochrome P450 - arranged by substrate type
    Cytochrome P450 - arranged by substrate type0.75
    Cyclophosphamide Pathway, Pharmacokinetics0.00
    Phase 1 - Functionalization of compounds0.75
    Ifosfamide Pathway, Pharmacokinetics0.00
    Xenobiotics0.00
    CYP2E1 reactions0.00
    Fatty Acid Omega Oxidation0.00
    2Biological oxidations
    Biological oxidations0.56
    Phenytoin Pathway, Pharmacokinetics0.00
    Acetaminophen metabolism0.00
    3Chemical carcinogenesis
    Chemical carcinogenesis0.71
    Retinol metabolism0.35
    Metabolism of xenobiotics by cytochrome P4500.71
    Artemisinin and Derivatives Pathway, Pharmacokinetics0.00
    Drug metabolism - cytochrome P4500.69
    4Pyrimidine metabolism
    Fluoropyrimidine Activity0.69
    Fluoropyrimidine Pathway, Pharmacokinetics0.69
    5Caffeine Pathway, Pharmacokinetics
    Caffeine metabolism0.44
    Caffeine Pathway, Pharmacokinetics0.44


    Find genes that share SuperPaths with CYP2A6           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 GeneGo (Thomson Reuters) Pathways for CYP2A6
        Retinol metabolism
    Naphthalene metabolism
    Acetaminophen metabolism

    Selected BioSystems Pathways for CYP2A6 (see all 13)
        Fluoropyrimidine Activity
    nicotine degradation IV
    nicotine degradation III
    bupropion degradation
    Nicotine metabolism

    2 Reactome Pathways for CYP2A6
        Xenobiotics
    CYP2E1 reactions

    Selected PharmGKB Pathways for CYP2A6 (see all 11)
        Acetaminophen Pathway, Pharmacokinetics
    Artemisinin and Derivatives Pathway, Pharmacokinetics
    Caffeine Pathway, Pharmacokinetics
    Carbamazepine Pathway, Pharmacokinetics
    Cyclophosphamide Pathway, Pharmacokinetics

    Selected Kegg Pathways  (Kegg details for CYP2A6) (see all 7):
        Caffeine metabolism
    Retinol metabolism
    Metabolism of xenobiotics by cytochrome P450
    Drug metabolism - cytochrome P450
    Drug metabolism - other enzymes

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CYP2A6
    Interactions:

        GeneGlobe Interaction Network for CYP2A6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CYP2A6 (ENSP000003011414) via UniProtKB, MINT, STRING, and/or I2D (see all 49)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ALDH1A1ENSP000002977854STRING: ENSP00000297785
    ALDH1A2ENSP000002497504STRING: ENSP00000249750
    CYP1A1ENSP000003690504STRING: ENSP00000369050
    CYP1A2ENSP000003420074STRING: ENSP00000342007
    CYP26A1ENSP000002243564STRING: ENSP00000224356
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006805xenobiotic metabolic process TAS--
    GO:0008202steroid metabolic process IMP18356043
    GO:0009804coumarin metabolic process IDA19651758
    GO:0017144drug metabolic process IMP18356043
    GO:0042738exogenous drug catabolic process IDA15680923

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    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CYP2A6 (CP2A6)

    Selected HMDB Compounds for CYP2A6 (see all 50)    About this table
    CompoundSynonyms CAS #PubMed Ids
    10-HETE10-hydroxyeicosa-all-cis-5,8,11,14-tetraenoate (see all 2)167697-52-1--
    11,12,15-THETA11,12,15-Trihydroxyicosatrienoic acid (see all 5)----
    11,12-Epoxyeicosatrienoic acid10-(3-(2-octenyl)oxiranyl)-5,8-Decadienoic acid (see all 15)81276-02-0--
    11,14,15-THETA(5Z,8Z,12E)-11,14,15-Trihydroxyeicosa-5,8,12-trienoic acid (see all 8)----
    11H-14,15-EETA14,15-Ep-11-HETrE (see all 11)219535-29-2--
    11beta-Hydroxytestosterone11beta,17beta-dihydroxyandrost-4-en-3-one 1816-85-9--
    12,13-EpOMEVernolic acid (see all 12)----
    13-HETE13-hydroxy-5Z,8Z,11Z,14Z-eicosatetraenoate (see all 2)151910-72-4--
    14,15-Epoxy-5,8,11-eicosatrienoic acid(5Z,8Z,11Z)-14,15-Epoxyicosa-5.8.11-trienoic acid (see all 11)81276-03-1--
    15(S)-HPETE(5Z,8Z,11Z,13E)-(15S)-15-Hydroperoxyicosa-5,8,11,13-tetraenoate (see all 8)70981-96-3--

    Selected DrugBank Compounds for CYP2A6 (see all 73)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Ifosfamide-- 3778-73-2enzymesubstrate16702183 19934256 10348794
    SelegilineL-Deprenalin (see all 4)14611-51-9enzymesubstrate19300583 17495414 19934256
    Arformoterol-- 67346-49-0enzymesubstrate10671910 17627976
    ChlorzoxazoneChloroxazone (see all 3)95-25-0enzymesubstrate10534312 19934256
    Cinnarizine-- 298-57-7enzymesubstrate19934256 19515014
    Flunarizine(E)-1-[Bis-(p-fluorophenyl)methyl]-4-cinnamylpiperazine (see all 6)52468-60-7enzymesubstrate19934256 19515014
    Flurazepam-- 17617-23-1enzymesubstrate1971572 18936109
    FormoterolFormoterol fumarate (see all 2)73573-87-2enzymesubstrate10671910 17627976
    Halothane2-Bromo-2-Chloro-1,1,1-Trifluoroethane (see all 14)151-67-7enzymesubstrate19442086 19934256
    PhenobarbitalFenobarbital (see all 7)50-06-6enzymeinhibitor inducer13677397 19934256

    Selected Novoseek inferred chemical compound relationships for CYP2A6 gene (see all 157)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    coumarin 93.5 275 9143352 (5), 8461033 (4), 15196988 (4), 9173680 (4) (see all 99)
    chlorzoxazone 86.9 24 10510277 (1), 9744576 (1), 12818727 (1), 8117926 (1) (see all 17)
    troleandomycin 84.2 10 9806945 (1), 11506127 (1), 9143352 (1), 8203907 (1) (see all 8)
    sulfaphenazole 83.9 6 8886607 (1), 9143352 (1), 11302937 (1), 9492382 (1) (see all 6)
    4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone 82.8 10 8022436 (1), 16176798 (1), 11259349 (1), 17139156 (1) (see all 9)
    bufuralol 82.7 12 8946477 (1), 9698290 (1), 9929510 (1), 16914511 (1) (see all 8)
    ethoxyresorufin 82.5 32 11585060 (2), 15093319 (1), 10224324 (1), 11700007 (1) (see all 25)
    furafylline 82.3 6 8886607 (1), 9143352 (1), 11585060 (1), 11302937 (1) (see all 6)
    7-hydroxycoumarin 81.4 9 9806947 (2), 18840518 (1), 8739824 (1), 16914511 (1) (see all 5)
    afmu 80.2 11 11073287 (1), 17221922 (1), 11270802 (1), 9653923 (1)

    Selected PharmGKB related drug/compound annotations for CYP2A6 gene (see all 12)    About this table
    Drug/compound PharmGKB Annotation
    coumarinCA  
    dasatinib
    dexlansoprazole
    dextromethorphan
    diazepam
    efavirenzCA  
    esomeprazole
    letrozole
    methoxsalenCA  
    nicotineCA  



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    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CYP2A6 gene: 
    NM_000762.5  

    Unigene Cluster for CYP2A6:

    Cytochrome P450, family 2, subfamily A, polypeptide 6
    Hs.250615  [show with all ESTs]
    Unigene Representative Sequence: NM_000762
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000301141(uc002opl.4 uc010ehe.1 uc010ehf.1) ENST00000599960
    ENST00000596719 ENST00000600495
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    Additional mRNA sequence: 

    AF182275.1 AK307740.1 AK309594.1 AK312964.1 BC096253.3 BC096254.1 BC096255.1 BC096256.1 
    M33318.1 X06401.1 X13897.1 X13929.1 X13930.1 

    12 DOTS entries:

    DT.441444  DT.100796642  DT.102820753  DT.102836902  DT.95161335  DT.121503458  DT.121503361  DT.100796640 
    DT.121503314  DT.92430530  DT.92430531  DT.92430534 

    Selected AceView cDNA sequences (see all 114):

    NM_030589 NM_000762 NM_000764 AV661332 M33317 CB124837 BV207402 CB121427 
    BV207403 AV661895 CB133199 BM979947 X13929 CB121445 CB138212 CB148789 
    CB142718 CB158493 CB135793 CB130051 CB135803 BV207404 CB147167 CB146940 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CYP2A6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCTTCCTGC
    CYP2A6 Expression
    About this image


    CYP2A6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Liver (Hepatobiliary System)
             Mature Hepatocytes Liver Lobule
    CYP2A6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CYP2A6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.250615

    UniProtKB/Swiss-Prot: CP2A6_HUMAN, P11509
    Tissue specificity: Liver

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for CYP2A6 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cyp2a51 cytochrome P450, family 2, subfamily a, polypeptide more 84.62(n)
    85.22(a)
      13087  NM_007812.4  NP_031838.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 6)
    Uncharacterized protein
    (see all 6)
    59(a)
    59(a)
    (see all 6)
    many ↔ many
    many ↔ many
    (see all 6)
    GL343693.1(238145-258195)
    GL344734.1(1715-22858)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cyp2a61 cytochrome P450, family 2, subfamily A, polypeptide more 58.25(n)
    55.44(a)
      496407  NM_001010998.1  NP_001010998.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C50H11.153
    cyp-36A11
    cytochrome P4503
    cyp-36A11
    33(a)
    (best of 35)3
    43.08(n)1
    32.53(a)1
      V(3091686-3094310)3
    1831931  NM_059866.41  NP_492267.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CYP2A6 gene
    CYP2A71 2  CYP2A131 2  CYP2W12  CYP2C82  CYP2F12  CYP2B62  CYP2C192  CYP2R12  
    CYP2J22  CYP2U12  CYP2S12  CYP2E12  CYP2C92  CYP2D62  CYP2C182  
    Selected SIMAP similar genes for CYP2A6 using alignment to 2 protein entries:     CP2A6_HUMAN (see all proteins) (see all similar genes):
    CYP2A6V2    CYP2A13    CYP2A7    CYP2C8    CYP2B    CYP2B7
    CYP2C19    CYP2C18    CYP2F1    CYP2C9    CYP2S1    CYP2E1
    CYP 2C    CYP2J2    CYP2B6    CYP2R1    CYP2U1    CYP2D6

    Find genes that share paralogs with CYP2A6           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CYP2A6 (see all 464)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1110336101,2,,4
    Cpathogenic141352941(-) TGTTCT/CCTTCG 2 /P /S mis11Minor allele frequency- C:0.00EU 1321
    rs18012721,2,,4
    C,F,Hpathogenic141354533(-) CGCCCT/ACCGGG 2 /H /L mis123Minor allele frequency- A:0.02MN NA NS EA EU 7097
    rs287421851,2
    C,F--41349172(+) AAAACC/TCCCCA 1 -- ds50014Minor allele frequency- T:0.25NA WA 8
    rs22592171,2
    C,F--41349233(+) GGAATA/GGGTGC 1 -- ds50011Minor allele frequency- G:0.04EA 120
    rs22592181,2
    H--41349238(+) AGGTGC/GTTTTT 1 -- ds50014Minor allele frequency- G:0.00NS EA 414
    rs22592191,2
    C,F,H--41349250(+) AGAATC/GTGTCT 1 -- ds50016Minor allele frequency- G:0.04NS EA NA WA 520
    rs24314121,2
    C,F--41349259(+) CTAGAA/GGGCTA 1 -- ds50015Minor allele frequency- G:0.06NA WA 244
    rs1835812741,2
    --41349288(+) CAAAGA/TTTTTC 1 -- ds50010--------
    rs725494531,2
    C--41349343(+) CTCAGC/TTTTGT 1 -- ds50010--------
    rs1468953541,2
    --41349351(+) TGTCAC/GGTGTA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for CYP2A6 (41349443 - 41356352 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CYP2A6 (see all 29):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv642e199CNV Deletion23128226
    esv2718568CNV Deletion23290073
    dgv643e199CNV Deletion23128226
    dgv563e201CNV Deletion23290073
    nsv435697CNV Deletion17901297
    nsv2490CNV Insertion18451855
    nsv436743CNV Insertion17901297
    nsv911747CNV Loss21882294
    nsv911741CNV Loss21882294
    dgv3878n71CNV Loss21882294

    The Human Cytochrome P450 Allele Nomenclature Database: CYP2A6 
    Human Gene Mutation Database (HGMD): CYP2A6
    Locus Specific Mutation Databases (LSDB): CYP2A6

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing CYP2A6
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 122720   
    OMIM disorders: 122700  188890  211980  
    6 diseases for CYP2A6:    
    About MalaCards
    lung cancer    coumarin resistance    nicotine addiction, protection from    nicotine addiction
    alcoholic liver cirrhosis    liver cirrhosis

    2 diseases from the University of Copenhagen DISEASES database for CYP2A6:
    Nicotine dependence     Lung cancer

    Find genes that share disorders with CYP2A6           About GenesLikeMe

    Selected Novoseek inferred disease relationships for CYP2A6 gene (see all 39)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer lung 34.2 41 15308589 (5), 10441482 (4), 11207029 (4), 17549345 (3) (see all 19)
    tobacco dependence 33.8 2 12818518 (1), 11207029 (1)
    smoking habit 27.9 10 15534625 (1), 18004205 (1), 18666753 (1), 17934923 (1) (see all 5)
    cancer 16.8 28 11927498 (2), 16176798 (2), 10517986 (2), 20136358 (1) (see all 22)
    liver damage 15.3 1 11131450 (1)
    alcoholic cirrhosis 12.8 1 11131450 (1)
    liver diseases 10.6 8 11131450 (3), 9831966 (3), 9453493 (1), 15155834 (1)
    renal disease 4.72 5 15531436 (2)
    tuberculosis 3.29 2 17073780 (2)
    carcinoma 2.58 5 11241319 (2), 17683511 (1), 16176798 (1)

    Genetic Association Database (GAD): CYP2A6
    Human Genome Epidemiology (HuGE) Navigator: CYP2A6 (144 documents)

    Export disorders for CYP2A6 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CYP2A6 gene, integrated from 10 sources (see all 756):
    (articles sorted by number of sources associating them with CYP2A6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Novel and established CYP2A6 alleles impair in vivo nicotine metabolism in a population of Black African descent. (PubMed id 18360915)1, 2, 4, 9 Mwenifumbo J.C.... Tyndale R.F. (Hum. Mutat. 2008)
    2. A novel single nucleotide polymorphism altering stability and activity of CYP2a6. (PubMed id 11237731)1, 2, 4 Ariyoshi N.... Kamataki T. (Biochem. Biophys. Res. Commun. 2001)
    3. cDNA and deduced amino acid sequences of human P450 IIA3 (CYP2A3). (PubMed id 2748347)1, 2, 3 Yamano S....Gonzalez F.J. (Nucleic Acids Res. 1989)
    4. Variation in coumarin 7-hydroxylase activity associated with genetic polymorphism of cytochrome P450 2A6 and the body status of iron stores in adult Thai males and females. (PubMed id 11927840)1, 4, 9 Ujjin P....Kamataki T. (Pharmacogenetics 2002)
    5. Frequency of CYP2A6 gene deletion and its relation to risk of lung and esophageal cancer in the Chinese population. (PubMed id 11241319)1, 4, 9 Tan W....Lin D.X. (Int. J. Cancer 2001)
    6. Hepatic CYP2A6 levels and nicotine metabolism: impact of genetic, physiological, environmental, and epigenetic factors. (PubMed id 20012030)1, 4, 9 Al Koudsi N....Tyndale R.F. (Eur. J. Clin. Pharmacol. 2010)
    7. Genetic and environmental influences on therapeutic and toxicity outcomes: studies with CYP2A6. (PubMed id 18666753)1, 4, 9 Satarug S....Moore M.R. (Curr Clin Pharmacol 2006)
    8. A novel CYP2A6 allele (CYP2A6*35) resulting in an amino-acid substitution (Asn438Tyr) is associated with lower CYP2A6 activity in vivo. (PubMed id 19365400)1, 4, 9 Al Koudsi N....Tyndale R.F. (Pharmacogenomics J. 2009)
    9. Three haplotypes associated with CYP2A6 phenotypes in Caucasians. (PubMed id 16041240)1, 4, 9 Haberl M....Wojnowski L. (Pharmacogenet. Genomics 2005)
    10. Comparison of cytochrome P450 2A6 polymorphism frequencies in Caucasians and African-Americans using a new one-step PCR-RFLP genotyping method. (PubMed id 11684323)1, 4, 9 Paschke T....Bepler G. (Toxicology 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1548 HGNC: 2610 AceView: CYP2A6andCYP2A7 Ensembl:ENSG00000255974 euGenes: HUgn1548
    ECgene: CYP2A6 Kegg: 1548 H-InvDB: CYP2A6

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CYP2A6 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CYP2A6 Genetics and Cytogenetics in Oncology and Haematology
    Cytochrome P450 Allele Nomenclature Committeehttp://www.cypalleles.ki.se/cyp2a6.htm
    NIEHS-SNPshttp://egp.gs.washington.edu/data/cyp2a6/
    Wikipedia http://en.wikipedia.org/wiki/CYP2A6

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CYP2A6 gene:
    Search GeneIP for patents involving CYP2A6

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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