Version: 8.0.0
Date: Tue Jan 28 2025
CYP2A6
Homo sapiensHGNC:2610
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

CYP2A6

Species
Homo sapiens
Symbol
CYP2A6
Name
cytochrome P450 family 2 subfamily A member 6
Synonyms
  • 1,4-cineole 2-exo-monooxygenase
  • coumarin 7-hydroxylase
Biotype
protein coding gene
Automated Description
Enables coumarin 7-hydroxylase activity; enzyme binding activity; and heme binding activity. Involved in coumarin catabolic process; steroid metabolic process; and xenobiotic catabolic process. Located in cytoplasmic microtubule.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR24300
No data available
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    Gene
    Association
    Disease Qualifier
    Disease
    Evidence
    Source
    Based On
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      Alleles and Variants

      Allele/Variant Symbol
      Allele Synonyms
      Category
      Variant
      Variant type
      Molecular consequence
      Has Disease Annotations
      Has Phenotype Annotations
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        Transgenic Alleles

        Species
        (carrying the transgene)
        Allele symbol
        Transgenic construct
        Expressed components
        Knock-down targets
        Regulatory regions
        Has Disease Annotations
        Has Phenotype Annotations
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          Models

          Model name
          Experimental condition
          Associated Human Diseases
          Associated Phenotypes
          Modifier
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            Sequence Feature Viewer

            Genome location
            Assembly version
            GRCh38
            Viewer Help
            40.844M40.845M40.846M40.847M40.848M40.849M40.850M

            Sequence Details

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            Expression

            Primary Sources
            None
            Other Sources
            Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

            Molecular Interactions

            CYP2A6 molecule type
            Interactor gene
            Interactor species
            Interactor molecule type
            Detection methods
            Source
            Reference
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              Genetic Interactions

              CYP2A6 role
              CYP2A6 genetic perturbation
              Interactor gene
              Interactor species
              Interactor role
              Interactor genetic perturbation
              Interaction type
              Phenotype or trait
              Source
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