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

Gene ID: 1557, updated on 1-Oct-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
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Genomic context

See CYP2C19 in Genome Data Viewer
Location:
10q23.33
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (94762681..94855547)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (95641807..95734675)
RS_2024_09 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 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
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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
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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
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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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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 arachidonate 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)

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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_2024_08

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)