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

Gene ID: 1548, updated on 15-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 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (40843538..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

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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