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

Gene ID: 1557, updated on 24-Sep-2017
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; 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
Location:
10q23.33
Exon count:
9
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 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 member 18 Neighboring gene mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 19 Neighboring gene cytochrome P450 family 2 subfamily C member 58, pseudogene Neighboring gene ribosomal protein L7a pseudogene 52

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Amitriptyline response
MedGen: CN176769 GeneReviews: Not available
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Citalopram response
MedGen: CN221263 GeneReviews: Not available
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Clobazam response
MedGen: CN456489 GeneReviews: Not available
not available
Clopidogrel response
MedGen: C2674941 GeneReviews: Not available
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CYP2C19-related poor drug metabolism
MedGen: C1836023 OMIM: 609535 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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Imipramine response
MedGen: CN221257 GeneReviews: Not available
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Selective serotonin reuptake inhibitor (SSRI) response
MedGen: CN221268 GeneReviews: Not available
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Sertraline response
MedGen: CN221265 GeneReviews: Not available
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Trimipramine response
MedGen: CN221259 GeneReviews: Not available
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Voriconazole response
MedGen: CN077957 GeneReviews: Not available
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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 
monooxygenase activity TAS
Traceable Author Statement
more info
 
oxidoreductase activity IDA
Inferred from Direct Assay
more info
PubMed 
oxygen binding TAS
Traceable Author Statement
more info
 
steroid hydroxylase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
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 
steroid metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
xenobiotic metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle TAS
Traceable Author Statement
more info
PubMed 
organelle membrane IEA
Inferred from Electronic Annotation
more info
 
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
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
    5001..95209
    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
    ENSP00000360372.3, OTTHUMP00000020132, ENST00000371321.7, OTTHUMT00000049490
    Conserved Domains (1) summary
    pfam00067
    Location:30487
    p450; Cytochrome P450

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p7 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)
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