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

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: all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

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_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Impact of CYP2C:TG Haplotype on CYP2C19 Substrates Clearance In Vivo, Protein Content, and In Vitro Activity.
Title: Impact of CYP2C:TG Haplotype on CYP2C19 Substrates Clearance In Vivo, Protein Content, and In Vitro Activity.
The Frequency of CYP2C19 Loss-of-Function Variants in Patients with Non-Cardioembolic Ischemic Stroke or Transient Ischemic Attack in the Dutch Population.
Title: The Frequency of CYP2C19 Loss-of-Function Variants in Patients with Non-Cardioembolic Ischemic Stroke or Transient Ischemic Attack in the Dutch Population.
The association of CYP2C19 LoF alleles with adverse clinical outcomes in stroke patients taking clopidogrel: An updated meta-analysis.
Title: The association of CYP2C19 LoF alleles with adverse clinical outcomes in stroke patients taking clopidogrel: An updated meta-analysis.
Aiming for precision: CYP2C19 gene polymorphism and clopidogrel resistance in patients with peripheral artery disease.
Title: Aiming for precision: CYP2C19 gene polymorphism and clopidogrel resistance in patients with peripheral artery disease.
Cytochrome P-450 CYP2C19 genetic polymorphism and its relation with clopidogrel resistance.
Title: Cytochrome P-450 CYP2C19 genetic polymorphism and its relation with clopidogrel resistance.
Genetic polymorphisms of CYP1A, CYP1B, CYP2C and risk of cervical cancer among rural population of Maharashtra: Findings from a hospital-based case-control study.
Title: Genetic polymorphisms of CYP1A, CYP1B, CYP2C and risk of cervical cancer among rural population of Maharashtra: Findings from a hospital-based case-control study.
Association of variants in the ABCB1, CYP2C19 and CYP2C9 genes for Juvenile Myoclonic Epilepsy.
Title: Association of variants in the ABCB1, CYP2C19 and CYP2C9 genes for Juvenile Myoclonic Epilepsy.
Clinical application of a real-time polymerase chain reaction test for CYP2C19 genotyping based on genotype distribution in a healthy Korean population.
Title: Clinical application of a real-time polymerase chain reaction test for CYP2C19 genotyping based on genotype distribution in a healthy Korean population.
Net clinical benefit of clopidogrel versus ticagrelor in elderly patients carrying CYP2C19 loss-of-function variants with acute coronary syndrome after percutaneous coronary intervention.
Title: Net clinical benefit of clopidogrel versus ticagrelor in elderly patients carrying CYP2C19 loss-of-function variants with acute coronary syndrome after percutaneous coronary intervention.
CYP2C19*17 association with higher plasma 4-hydroxy tamoxifen in Pakistani (estrogen-positive) breast cancer patients.
Title: CYP2C19*17 association with higher plasma 4-hydroxy tamoxifen in Pakistani (estrogen-positive) breast cancer patients.

Submit: New GeneRIF Correction See all GeneRIFs (765)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Amitriptyline response MedGen: CN176769 GeneReviews: Not available	Compare labs
Brivaracetam response MedGen: CN781941 GeneReviews: Not available	Compare labs
Citalopram response MedGen: CN221263 GeneReviews: Not available	Compare labs
Clobazam response MedGen: CN456489 GeneReviews: Not available	Compare labs
Clopidogrel response MedGen: C2674941 GeneReviews: Not available	Compare labs
Clozapine response MedGen: CN077971 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	Compare labs
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	Compare labs
Imipramine response MedGen: CN221257 GeneReviews: Not available	Compare labs
Lacosamide response MedGen: CN781942 GeneReviews: Not available	Compare labs
Lansoprazole response MedGen: CN474477 GeneReviews: Not available	Compare labs
Pantoprazole response MedGen: CN474478 GeneReviews: Not available	Compare labs
Selective serotonin reuptake inhibitor 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

EBI GWAS Catalog

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

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH70868 (e-PCR)
- UniSTS:12819

NoName (e-PCR)
- UniSTS:481123

GDB:193845 (e-PCR)
- UniSTS:155761

GDB:364113 (e-PCR)
- UniSTS:156806

GDB:364118 (e-PCR)
- UniSTS:156807

STS-L07093 (e-PCR)
- UniSTS:7824

RH80282 (e-PCR)
- UniSTS:87962

D10S2360 (e-PCR)
- UniSTS:31197

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

Process	Evidence Code	Pubs
involved_in epoxygenase P450 pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in epoxygenase P450 pathway	TAS Traceable Author Statement more info
involved_in long-chain fatty acid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in monoterpenoid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in omega-hydroxylase P450 pathway	TAS Traceable Author Statement more info
involved_in steroid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in xenobiotic catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in xenobiotic metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in xenobiotic metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in xenobiotic metabolic process	TAS Traceable Author Statement more info

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

Go to the top of the page Help

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

EC 1.14.14.1

EC 1.14.14.51

EC 1.14.14.52

EC 1.14.14.53

EC 1.14.14.75

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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.