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

    Gene ID: 1557, updated on 8-Jul-2024

    Summary

    Official Symbol
    CYP2C19provided by HGNC
    Official Full Name
    cytochrome P450 family 2 subfamily C member 19provided by HGNC
    Primary source
    HGNC:HGNC:2621
    See related
    Ensembl:ENSG00000165841 MIM:124020; AllianceGenome:HGNC:2621
    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]
    Expression
    Biased expression in liver (RPKM 80.1), duodenum (RPKM 37.5) and 3 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See CYP2C19 in Genome Data Viewer
    Location:
    10q23.33
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (94762681..94855547)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (95641807..95734675)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (96522438..96615304)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene CTBP2 pseudogene 2 Neighboring gene cytochrome P450 family 2 subfamily C member 18 Neighboring gene Sharpr-MPRA regulatory region 9306 Neighboring gene CYP2C19 promoter Neighboring gene MT-ND4 pseudogene 19 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:96590143-96590741 Neighboring gene cytochrome P450 family 2 subfamily C member 58, pseudogene Neighboring gene ribosomal protein L7a pseudogene 52

    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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Amitriptyline response
    MedGen: CN176769 GeneReviews: Not available
    Compare labs
    Brivaracetam response
    MedGen: CN781941 GeneReviews: Not available
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    Citalopram response
    MedGen: CN221263 GeneReviews: Not available
    Compare labs
    Clobazam response
    MedGen: CN456489 GeneReviews: Not available
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    Clopidogrel response
    MedGen: C2674941 GeneReviews: Not available
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    Clozapine response
    MedGen: CN077971 GeneReviews: Not available
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    CYP2C19-related poor drug metabolism
    MedGen: C1836023 OMIM: 609535 GeneReviews: Not available
    Compare labs
    Dexlansoprazole response
    MedGen: CN474479 GeneReviews: Not available
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    Doxepin response
    MedGen: CN077978 GeneReviews: Not available
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    Escitalopram response
    MedGen: CN221264 GeneReviews: Not available
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    Esomeprazole response
    MedGen: CN077982 GeneReviews: Not available
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    Flibanserin response
    MedGen: CN507895 GeneReviews: Not available
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    Imipramine response
    MedGen: CN221257 GeneReviews: Not available
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    Lacosamide response
    MedGen: CN781942 GeneReviews: Not available
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    Lansoprazole response
    MedGen: CN474477 GeneReviews: Not available
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    Pantoprazole response
    MedGen: CN474478 GeneReviews: Not available
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    Selective serotonin reuptake inhibitor response
    MedGen: CN221268 GeneReviews: Not available
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    Sertraline response
    MedGen: CN221265 GeneReviews: Not available
    Compare labs
    Trimipramine response
    MedGen: CN221259 GeneReviews: Not available
    Compare labs
    Voriconazole response
    MedGen: CN077957 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables (R)-limonene 6-monooxygenase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables (S)-limonene 6-monooxygenase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables (S)-limonene 7-monooxygenase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables arachidonic acid epoxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables aromatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables heme binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables heme binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables iron ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables long-chain fatty acid omega-1 hydroxylase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables monooxygenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables monooxygenase activity TAS
    Traceable Author Statement
    more info
     
    enables oxidoreductase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables 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
     
    enables oxygen binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables steroid hydroxylase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    cytochrome P450 2C19
    Names
    (R)-limonene 6-monooxygenase
    (S)-limonene 6-monooxygenase
    (S)-limonene 7-monooxygenase
    S-mephenytoin 4-hydroxylase
    cytochrome P-450 II C
    cytochrome P450, family 2, subfamily C, polypeptide 19
    cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19
    cytochrome P450-11A
    cytochrome P450-254C
    fenbendazole monooxygenase (4'-hydroxylating)
    flavoprotein-linked monooxygenase
    mephenytoin 4'-hydroxylase
    mephenytoin 4-hydroxylase
    microsomal monooxygenase
    xenobiotic monooxygenase
    NP_000760.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_008384.3 RefSeqGene

      Range
      5001..97867
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_584

    mRNA and Protein(s)

    1. NM_000769.4NP_000760.1  cytochrome P450 2C19

      See identical proteins and their annotated locations for NP_000760.1

      Status: REVIEWED

      Source sequence(s)
      AL133513, CB158473, CB161988, M61854
      Consensus CDS
      CCDS7436.1
      UniProtKB/Swiss-Prot
      P33259, P33261, Q8WZB1, Q8WZB2, Q9UCD4
      UniProtKB/TrEMBL
      S5R8G8
      Related
      ENSP00000360372.3, ENST00000371321.9
      Conserved Domains (1) summary
      pfam00067
      Location:30487
      p450; Cytochrome P450

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      94762681..94855547
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      95641807..95734675
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)