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    CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19 [ Homo sapiens (human) ]

    Gene ID: 1557, updated on 28-Jun-2015
    Official Symbol
    CYP2C19provided by HGNC
    Official Full Name
    cytochrome P450, family 2, subfamily C, polypeptide 19provided by HGNC
    Primary source
    HGNC:HGNC:2621
    See related
    Ensembl:ENSG00000165841; HPRD:00486; MIM:124020; Vega:OTTHUMG00000018799
    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
    CPCJ; CYP2C; P450C2C; CYPIIC17; CYPIIC19; P450IIC19
    Summary
    This gene 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 is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, omeprazole, diazepam and some barbiturates. Polymorphism within this gene is associated with variable ability to metabolize mephenytoin, known as the poor metabolizer and extensive metabolizer phenotypes. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. [provided by RefSeq, Jul 2008]
    Orthologs
    See CYP2C19 in Epigenomics, MapViewer
    Location:
    10q24
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 10 NC_000010.11 (94762681..94853205)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (96522463..96612671)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene C-terminal binding protein 2 pseudogene 2 Neighboring gene cytochrome P450, family 2, subfamily C, polypeptide 18 Neighboring gene MT-ND4 pseudogene 19 Neighboring gene ribosomal protein L7a pseudogene 52 Neighboring gene cytochrome P450, family 2, subfamily C, polypeptide 115, pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Amitriptyline response
    MedGen: CN176769 GeneReviews: Not available
    Compare labs
    Citalopram response
    MedGen: CN221263 GeneReviews: Not available
    Compare labs
    Clopidogrel response
    MedGen: C2674941 GeneReviews: Not available
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    CYP2C19-related poor drug metabolism
    MedGen: C1836023 OMIM: 609535 GeneReviews: Not available
    Compare labs
    Doxepin response
    MedGen: CN077978 GeneReviews: Not available
    Compare labs
    Escitalopram response
    MedGen: CN221264 GeneReviews: Not available
    Compare labs
    Esomeprazole response
    MedGen: CN077982 GeneReviews: Not available
    not available
    Sertraline response
    MedGen: CN221265 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of acenocoumarol maintenance dosage.
    NHGRI GWA Catalog
    An atlas of genetic influences on human blood metabolites.
    NHGRI GWA Catalog
    Association of cytochrome P450 2C19 genotype with the antiplatelet effect and clinical efficacy of clopidogrel therapy.
    NHGRI GWA Catalog
    Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations.
    NHGRI GWA Catalog
    Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study.
    NHGRI GWA Catalog
    Genome-wide meta-analysis identifies new susceptibility loci for migraine.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    (R)-limonene 6-monooxygenase activity IEA
    Inferred from Electronic Annotation
    more info
     
    (S)-limonene 6-monooxygenase activity IEA
    Inferred from Electronic Annotation
    more info
     
    (S)-limonene 7-monooxygenase activity IEA
    Inferred from Electronic Annotation
    more info
     
    arachidonic acid epoxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    heme binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    iron ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    monooxygenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    oxidoreductase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
     
    oxygen binding TAS
    Traceable Author Statement
    more info
    PubMed 
    steroid hydroxylase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    arachidonic acid metabolic process TAS
    Traceable Author Statement
    more info
     
    drug metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    epoxygenase P450 pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    epoxygenase P450 pathway TAS
    Traceable Author Statement
    more info
     
    exogenous drug catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    heterocycle metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    monoterpenoid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    omega-hydroxylase P450 pathway TAS
    Traceable Author Statement
    more info
     
    oxidation-reduction process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
     
    steroid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    xenobiotic metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    xenobiotic metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    intracellular membrane-bounded organelle TAS
    Traceable Author Statement
    more info
    PubMed 
    Preferred Names
    cytochrome P450 2C19
    Names
    cytochrome P450 2C19
    (R)-limonene 6-monooxygenase
    (S)-limonene 6-monooxygenase
    (S)-limonene 7-monooxygenase
    S-mephenytoin 4-hydroxylase
    cytochrome P-450 II C
    cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19
    cytochrome P450-11A
    cytochrome P450-254C
    flavoprotein-linked monooxygenase
    mephenytoin 4'-hydroxylase
    mephenytoin 4-hydroxylase
    microsomal monooxygenase
    xenobiotic monooxygenase
    NP_000760.1

    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_008384.2 RefSeqGene

      Range
      4976..95500
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000769.2NP_000760.1  cytochrome P450 2C19 precursor

      See identical proteins and their annotated locations for NP_000760.1

      Status: REVIEWED

      Source sequence(s)
      CB158473, CB161988, M61854
      Consensus CDS
      CCDS7436.1
      UniProtKB/Swiss-Prot
      P33261
      Related
      ENSP00000360372, OTTHUMP00000020132, ENST00000371321, OTTHUMT00000049490
      Conserved Domains (1) summary
      pfam00067
      Location:30487
      p450; Cytochrome P450

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p2 Primary Assembly

      Range
      94762681..94853205
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      96804187..96894726
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)