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    CYP2A6 cytochrome P450 family 2 subfamily A member 6 [ Homo sapiens (human) ]

    Gene ID: 1548, updated on 17-Jun-2019

    Summary

    Official Symbol
    CYP2A6provided by HGNC
    Official Full Name
    cytochrome P450 family 2 subfamily A member 6provided by HGNC
    Primary source
    HGNC:HGNC:2610
    See related
    Ensembl:ENSG00000255974 MIM:122720
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CPA6; CYP2A; CYP2A3; P450PB; CYPIIA6; P450C2A
    Summary
    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]
    Expression
    Restricted expression toward liver (RPKM 542.0) See more

    Genomic context

    See CYP2A6 in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (40843541..40850447, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (41349441..41356360, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene cytochrome P450 family 2 subfamily T member 1, pseudogene Neighboring gene cytochrome P450 family 2 subfamily F member 2, pseudogene Neighboring gene CYP2A6 5' regulatory region Neighboring gene cytochrome P450 family 2 subfamily A member 7 Neighboring gene uncharacterized LOC107985299 Neighboring gene cytochrome P450 family 2 subfamily G member 1, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Lung cancer
    MedGen: C0684249 OMIM: 211980 GeneReviews: Not available
    Compare labs
    Tobacco addiction, susceptibility to
    MedGen: C1861063 OMIM: 188890 GeneReviews: Not available
    Compare labs
    Warfarin response
    MedGen: C0750384 OMIM: 122700 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13.
    NHGRI GWA Catalog
    Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.
    NHGRI GWA Catalog
    Genome-wide meta-analyses identify multiple loci associated with smoking behavior.
    NHGRI GWA Catalog
    Haplotypes with copy number and single nucleotide polymorphisms in CYP2A6 locus are associated with smoking quantity in a Japanese population.
    NHGRI GWA Catalog
    Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior.
    NHGRI GWA Catalog

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    arachidonic acid epoxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    coumarin 7-hydroxylase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    heme binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    heme binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    iron ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    oxidoreductase 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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    steroid hydroxylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    coumarin catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    coumarin metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    coumarin metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    coumarin metabolic process TAS
    Traceable Author Statement
    more info
     
    drug metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    drug metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    epoxygenase P450 pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    exogenous drug catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    exogenous drug catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    organic acid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    oxidation-reduction process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    steroid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    xenobiotic metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasmic microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    cytochrome P450 2A6
    Names
    1,4-cineole 2-exo-monooxygenase
    coumarin 7-hydroxylase
    cytochrome P450 IIA3
    cytochrome P450(I)
    cytochrome P450, family 2, subfamily A, polypeptide 6
    cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6
    flavoprotein-linked monooxygenase
    xenobiotic monooxygenase
    NP_000753.3

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008377.1 RefSeqGene

      Range
      5001..11910
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000762.6NP_000753.3  cytochrome P450 2A6 precursor

      See identical proteins and their annotated locations for NP_000753.3

      Status: REVIEWED

      Source sequence(s)
      BC096254, BC096256, DA641580, X13897
      Consensus CDS
      CCDS12568.1
      UniProtKB/Swiss-Prot
      P11509
      Related
      ENSP00000301141.4, ENST00000301141.10
      Conserved Domains (1) summary
      pfam00067
      Location:34491
      p450; Cytochrome P450

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

      Range
      40843541..40850447 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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