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

Gene ID: 1557, updated on 9-Sep-2018

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; 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]
Expression
Biased expression in liver (RPKM 80.1), duodenum (RPKM 37.5) and 3 other tissues See more
Orthologs

Genomic context

See CYP2C19 in Genome Data Viewer
Location:
10q23.33
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (94762681..94855551)
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 CYP2C19 promoter Neighboring gene MT-ND4 pseudogene 19 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Amitriptyline response
MedGen: CN176769 GeneReviews: Not available
Compare labs
Brivaracetam response
MedGen: CN781941 GeneReviews: Not available
not available
Citalopram response
MedGen: CN221263 GeneReviews: Not available
Compare labs
Clobazam response
MedGen: CN456489 GeneReviews: Not available
not available
Clopidogrel response
MedGen: C2674941 GeneReviews: Not available
Compare labs
CYP2C19-related poor drug metabolism
MedGen: C1836023 OMIM: 609535 GeneReviews: Not available
Compare labs
Dexlansoprazole response
MedGen: CN474479 GeneReviews: Not available
not available
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
Compare labs
Flibanserin response
MedGen: CN507895 GeneReviews: Not available
not available
Imipramine response
MedGen: CN221257 GeneReviews: Not available
Compare labs
Lacosamide response
MedGen: CN781942 GeneReviews: Not available
not available
Lansoprazole response
MedGen: CN474477 GeneReviews: Not available
not available
Pantoprazole response
MedGen: CN474478 GeneReviews: Not available
not available
Selective serotonin reuptake inhibitor (SSRI) response
MedGen: CN221268 GeneReviews: Not available
Compare labs
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

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
arachidonic acid epoxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
heme binding IBA
Inferred from Biological aspect of Ancestor
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 
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
PubMed 
oxygen binding TAS
Traceable Author Statement
more info
PubMed 
steroid hydroxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
epoxygenase P450 pathway TAS
Traceable Author Statement
more info
 
exogenous drug catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
organic acid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxidation-reduction process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
xenobiotic metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular membrane-bounded organelle TAS
Traceable Author Statement
more info
PubMed 
organelle membrane IEA
Inferred from Electronic Annotation
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
flavoprotein-linked monooxygenase
mephenytoin 4'-hydroxylase
mephenytoin 4-hydroxylase
microsomal monooxygenase
xenobiotic monooxygenase
NP_000760.1

NCBI Reference Sequences (RefSeq)

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)

mRNA and Protein(s)

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

    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
    P33261
    Related
    ENSP00000360372.3, OTTHUMP00000020132, ENST00000371321.8
    Conserved Domains (1) summary
    pfam00067
    Location:30487
    p450; Cytochrome P450

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    94762681..94855551
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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