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

Gene ID: 1559, updated on 21-Apr-2019

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
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; 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

Genomic context

See CYP2C9 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 (94938658..94989391)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (96698350..96749486)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L7a pseudogene 52 Neighboring gene cytochrome P450 family 2 subfamily C member 115, pseudogene Neighboring gene CYP2C9 promoter Neighboring gene MT-ND4 pseudogene 20 Neighboring gene uncharacterized LOC107984256 Neighboring gene cytochrome P450 family 2 subfamily C member 59, pseudogene

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

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

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC88320, MGC149605

Gene Ontology Provided by GOA

Function Evidence Code Pubs
caffeine oxidase activity IDA
Inferred from Direct Assay
more info
PubMed 
drug 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 NAS
Non-traceable Author Statement
more info
PubMed 
oxidoreductase activity IDA
Inferred from Direct Assay
more info
PubMed 
steroid hydroxylase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
cellular amide metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
drug catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
drug metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
drug metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
epoxygenase P450 pathway TAS
Traceable Author Statement
more info
 
exogenous drug catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
long-chain fatty acid biosynthetic process TAS
Traceable Author Statement
more info
 
monocarboxylic acid 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 
oxidative demethylation IDA
Inferred from Direct Assay
more info
PubMed 
steroid metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
urea metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
xenobiotic metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
PubMed 
intracellular membrane-bounded organelle TAS
Traceable Author Statement
more info
PubMed 

General protein information

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

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_008385.2 RefSeqGene

    Range
    5501..56934
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1195

mRNA and Protein(s)

  1. NM_000771.4NP_000762.2  cytochrome P450 2C9 precursor

    See identical proteins and their annotated locations for NP_000762.2

    Status: REVIEWED

    Source sequence(s)
    AL359672, BC125054, BG562738, BJ993098, CB162706, S46963
    Consensus CDS
    CCDS7437.1
    UniProtKB/Swiss-Prot
    P11712
    UniProtKB/TrEMBL
    S5RV20
    Related
    ENSP00000260682.6, ENST00000260682.8
    Conserved Domains (1) summary
    pfam00067
    Location:30487
    p450; Cytochrome P450

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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
    94938658..94989391
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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