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

Gene ID: 1557, updated on 11-Dec-2014
Official Symbol
CYP2C19provided by HGNC
Official Full Name
cytochrome P450, family 2, subfamily C, polypeptide 19provided by HGNC
Primary source
HGNC:HGNC:2621
Locus tag
RP11-400G3.4
See related
HPRD:00486; MIM:124020
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]
See CYP2C19 in Epigenomics, MapViewer
Location:
10q24
Exon count:
9
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 10 NC_000010.11 (94762706..94852914)
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
Clopidogrel response
MedGen: C2674941 GeneReviews: Not available
Compare labs
CYP2C19-related poor drug metabolism
MedGen: C1836023 OMIM: 609535 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
cytochrome P450-11A
cytochrome P450-254C
cytochrome P-450 II C
microsomal monooxygenase
xenobiotic monooxygenase
mephenytoin 4-hydroxylase
mephenytoin 4'-hydroxylase
S-mephenytoin 4-hydroxylase
(R)-limonene 6-monooxygenase
(S)-limonene 6-monooxygenase
(S)-limonene 7-monooxygenase
flavoprotein-linked monooxygenase
cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19
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 

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

mRNA and Protein(s)

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

    See proteins identical to NP_000760.1

    Status: REVIEWED

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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000010.11 

    Range
    94762706..94852914
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 

    Range
    96804212..96894435
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000142.1 

    Range
    90149122..90239340
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)