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

Gene ID: 1559, updated on 22-Mar-2015
Official Symbol
CYP2C9provided by HGNC
Official Full Name
cytochrome P450, family 2, subfamily C, polypeptide 9provided by HGNC
Primary source
HGNC:HGNC:2623
See related
Ensembl:ENSG00000138109; HPRD:03084; MIM:601130; Vega:OTTHUMG00000018805
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]
Orthologs
See CYP2C9 in MapViewer
Location:
10q24
Exon count:
9
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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, polypeptide 115, pseudogene Neighboring gene MT-ND4 pseudogene 20 Neighboring gene cytochrome P450, family 2, subfamily C, polypeptide 59, pseudogene Neighboring gene cytochrome P450, family 2, subfamily C, polypeptide 8

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Warfarin response
MedGen: CN078029 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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC88320, MGC149605

Gene Ontology Provided by GOA

Function Evidence Code Pubs
(R)-limonene 6-monooxygenase activity IEA
Inferred from Electronic Annotation
more info
 
(S)-limonene 6-monooxygenase activity IEA
Inferred from Electronic Annotation
more info
 
(S)-limonene 7-monooxygenase activity IEA
Inferred from Electronic Annotation
more info
 
arachidonic acid epoxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
caffeine oxidase activity IDA
Inferred from Direct Assay
more info
PubMed 
drug binding IDA
Inferred from Direct Assay
more info
PubMed 
heme binding IBA
Inferred from Biological aspect of Ancestor
more info
 
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 
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
 
oxygen binding IBA
Inferred from Biological aspect of Ancestor
more info
 
steroid hydroxylase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
arachidonic acid metabolic process TAS
Traceable Author Statement
more info
 
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 IBA
Inferred from Biological aspect of Ancestor
more info
 
epoxygenase P450 pathway TAS
Traceable Author Statement
more info
 
exogenous drug catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
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 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
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 IBA
Inferred from Biological aspect of Ancestor
more info
 
xenobiotic metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
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 
Preferred Names
cytochrome P450 2C9
Names
cytochrome P450 2C9
cytochrome P-450 S-mephenytoin 4-hydroxylase
cytochrome P-450MP
cytochrome P450 PB-1
flavoprotein-linked monooxygenase
microsomal monooxygenase
xenobiotic monooxygenase
NP_000762.2

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_008385.1 RefSeqGene

    Range
    5001..55734
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000771.3NP_000762.2  cytochrome P450 2C9 precursor

    See proteins identical to NP_000762.2

    Status: REVIEWED

    Source sequence(s)
    BC125054, BJ993098, S46963
    Consensus CDS
    CCDS7437.1
    UniProtKB/Swiss-Prot
    P11712
    UniProtKB/TrEMBL
    S5RV20
    Related
    ENSP00000260682, OTTHUMP00000020135, ENST00000260682, OTTHUMT00000049501
    Conserved Domains (1) summary
    pfam00067
    Location:30487
    p450; Cytochrome P450

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p2 Primary Assembly

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

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 Alternate CHM1_1.1

    Range
    96980209..97030927
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)