CYP2C9 cytochrome P450 family 2 subfamily C member 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CYP2C9provided by HGNC
Official Full Name: cytochrome P450 family 2 subfamily C member 9provided by HGNC
Primary source: HGNC:HGNC:2623
See related: Ensembl:ENSG00000138109 MIM:601130; AllianceGenome:HGNC:2623
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: CPC9; CYP2C; CYP2C10; CYPIIC9; P450-2C9; P450IIC9
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 its expression is induced by rifampin. The enzyme is known to metabolize many xenobiotics, including phenytoin, tolbutamide, ibuprofen and S-warfarin. Studies identifying individuals who are poor metabolizers of phenytoin and tolbutamide suggest that this gene is polymorphic. 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 331.8), duodenum (RPKM 60.3) and 1 other tissue See more
Orthologs: all
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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 (94938658..94990091)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (95817787..95869223)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (96698415..96749848)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification of the effects of pathogenic genetic variations of human CYP2C9 and CYP2D6: an in silico approach.
Title: Identification of the effects of pathogenic genetic variations of human CYP2C9 and CYP2D6: an in silico approach.
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.
Genetic variation of CYP2C9 gene and its correlation with cardiovascular disease risk factors.
Title: Genetic variation of CYP2C9 gene and its correlation with cardiovascular disease risk factors.
Impact of CYP2C9*2 and *3 polymorphisms on valproate-associated adverse drug reactions in individuals living with epilepsy: a case-control study.
Title: Impact of CYP2C9*2 and *3 polymorphisms on valproate-associated adverse drug reactions in individuals living with epilepsy: a case-control study.
The influence of temperature on the metabolic activity of CYP2C9, CYP2C19, and CYP3A4 genetic variants in vitro.
Title: The influence of temperature on the metabolic activity of CYP2C9, CYP2C19, and CYP3A4 genetic variants in vitro.
Effects of CYP3A4 and CYP2C9 genotype on systemic anastrozole and fulvestrant concentrations in SWOG S0226.
Title: Effects of CYP3A4 and CYP2C9 genotype on systemic anastrozole and fulvestrant concentrations in SWOG S0226.
Identification and in vitro functional assessment of 10 CYP2C9 variants found in Chinese Han subjects.
Title: Identification and in vitro functional assessment of 10 CYP2C9 variants found in Chinese Han subjects.
Frequency of polymorphisms in the CYP2C9, VKORC1, and CYP4F2 genes related to the metabolism of Warfarin in healthy donors from Cali, Colombia.
Title: Frequency of polymorphisms in the CYP2C9, VKORC1, and CYP4F2 genes related to the metabolism of Warfarin in healthy donors from Cali, Colombia.
FREQUENCY OF VKORC1 AND CYP2C9 GENES POLYMORPHISM IN ABKHAZIAN POPULATION.
Title: FREQUENCY OF VKORC1 AND CYP2C9 GENES POLYMORPHISM IN ABKHAZIAN POPULATION.
VARIANTS OF THE FORMATION AND COURSE OF DRUG-RESISTANT EPILEPSY IN CHILDREN WITH GENETIC POLYMORPHISMS OF CYP2C9, CYP2C19, CYP3A4.
Title: VARIANTS OF THE FORMATION AND COURSE OF DRUG-RESISTANT EPILEPSY IN CHILDREN WITH GENETIC POLYMORPHISMS OF CYP2C9, CYP2C19, CYP3A4.

Submit: New GeneRIF Correction See all GeneRIFs (576)

Phenotypes

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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
Dronabinol response MedGen: CN258190 GeneReviews: Not available	Compare labs
Flurbiprofen response MedGen: CN258139 GeneReviews: Not available	Compare labs
Lesinurad response MedGen: CN248784 GeneReviews: Not available	Compare labs
Piroxicam response MedGen: CN258188 GeneReviews: Not available	Compare labs
Warfarin response MedGen: C0750384 OMIM: 122700 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinants of warfarin dose. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose. 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
Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms. 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 association study identifies genetic determinants of warfarin responsiveness for Japanese. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of antibody response to smallpox vaccine. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-33162 (e-PCR)
- UniSTS:19993

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

SGC35305 (e-PCR)
- UniSTS:73844

D10S2360 (e-PCR)
- UniSTS:31197

RH45236 (e-PCR)
- UniSTS:2795

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 11,12-epoxygenase activity	IEA Inferred from Electronic Annotation more info
enables arachidonic acid 14,15-epoxygenase activity	IEA Inferred from Electronic Annotation more info
enables arachidonic acid epoxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables arachidonic acid epoxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables aromatase activity	IEA Inferred from Electronic Annotation more info
enables caffeine oxidase activity	IDA Inferred from Direct Assay more info	PubMed
enables heme binding	IBA Inferred from Biological aspect of Ancestor more info
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables monooxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables monooxygenase activity	NAS Non-traceable Author Statement 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 steroid hydroxylase activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in amide metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cholesterol metabolic process	IEA Inferred from Electronic Annotation more info
involved_in epoxygenase P450 pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in epoxygenase P450 pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in epoxygenase P450 pathway	TAS Traceable Author Statement more info
involved_in estrogen metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in icosanoid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in long-chain fatty acid biosynthetic process	TAS Traceable Author Statement more info
involved_in monocarboxylic 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 oxidative demethylation	IDA Inferred from Direct Assay more info	PubMed
involved_in steroid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in urea metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in xenobiotic catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in xenobiotic catabolic process	IMP Inferred from Mutant Phenotype 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	IMP Inferred from Mutant Phenotype 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	PubMed
located_in intracellular membrane-bounded organelle	TAS Traceable Author Statement more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: cytochrome P450 2C9

Names: cytochrome P-450 S-mephenytoin 4-hydroxylase; cytochrome P-450MP; cytochrome P450 PB-1; cytochrome P450, family 2, subfamily C, polypeptide 9; flavoprotein-linked monooxygenase; microsomal monooxygenase; xenobiotic monooxygenase

NP_000762.2

EC 1.14.14.1

EC 1.14.14.51

EC 1.14.14.52

EC 1.14.14.53

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.