ENSG00000138109


Homo sapiens

Features
Gene ID: ENSG00000138109
  
Biological name :CYP2C9
  
Synonyms : CYP2C9 / cytochrome P450 family 2 subfamily C member 9 / P11712
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: 1
Band: q23.33
Gene start: 94938658
Gene end: 94989391
  
Corresponding Affymetrix probe sets: 214419_s_at (Human Genome U133 Plus 2.0 Array)   214420_s_at (Human Genome U133 Plus 2.0 Array)   214421_x_at (Human Genome U133 Plus 2.0 Array)   216025_x_at (Human Genome U133 Plus 2.0 Array)   216661_x_at (Human Genome U133 Plus 2.0 Array)   217558_at (Human Genome U133 Plus 2.0 Array)   220017_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000260682
Ensembl peptide - ENSP00000495649
Ensembl peptide - ENSP00000496202
NCBI entrez gene - 1559     See in Manteia.
OMIM - 601130
RefSeq - XM_017015758
RefSeq - NM_000771
RefSeq Peptide - NP_000762
swissprot - P11712
swissprot - S5RV20
Ensembl - ENSG00000138109
  
Related genetic diseases (OMIM): 122700 - Warfarin sensitivity, 122700
  601130 - Tolbutamide poor metabolizer
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 CYP2C9ENSDARG00000101423Danio rerio
 CYP2C23bENSGALG00000005795Gallus gallus
 CYP2C45ENSGALG00000023925Gallus gallus
 Cyp2c40ENSMUSG00000025004Mus musculus
 Cyp2c65ENSMUSG00000067231Mus musculus
 Cyp2c66ENSMUSG00000067229Mus musculus
 P56654ENSMUSG00000042248Mus musculus
 P56655ENSMUSG00000032808Mus musculus
 P56656ENSMUSG00000025003Mus musculus
 Q64458ENSMUSG00000003053Mus musculus
 Q6XVG2ENSMUSG00000067225Mus musculus
 Q91X77ENSMUSG00000054827Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P33261 / CYP2C19 / cytochrome P450 family 2 subfamily C member 19ENSG0000016584191
P33260 / CYP2C18 / cytochrome P450 family 2 subfamily C member 18ENSG0000010824282
CYP2C8 / P10632 / cytochrome P450 family 2 subfamily C member 8ENSG0000013811578
CYP2E1 / P05181 / cytochrome P450 family 2 subfamily E member 1ENSG0000013064957
AL583836.1ENSG0000027649053
CYP2F1 / P24903 / cytochrome P450 family 2 subfamily F member 1ENSG0000019744650
Q16696 / CYP2A13 / cytochrome P450 family 2 subfamily A member 13ENSG0000019783850
CYP2A7 / P20853 / cytochrome P450 family 2 subfamily A member 7ENSG0000019807749
CYP2A6 / P11509 / cytochrome P450 family 2 subfamily A member 6ENSG0000025597449
CYP2B6 / P20813 / cytochrome P450 family 2 subfamily B member 6ENSG0000019740848


Protein motifs (from Interpro)
Interpro ID Name
 IPR001128  Cytochrome P450
 IPR002401  Cytochrome P450, E-class, group I
 IPR017972  Cytochrome P450, conserved site
 IPR036396  Cytochrome P450 superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006805 xenobiotic metabolic process TAS
 biological_processGO:0008202 steroid metabolic process IMP
 biological_processGO:0016098 monoterpenoid metabolic process IDA
 biological_processGO:0017144 drug metabolic process IMP
 biological_processGO:0019373 epoxygenase P450 pathway TAS
 biological_processGO:0019627 urea metabolic process IDA
 biological_processGO:0032787 monocarboxylic acid metabolic process IDA
 biological_processGO:0042737 drug catabolic process IMP
 biological_processGO:0042738 exogenous drug catabolic process IDA
 biological_processGO:0043603 cellular amide metabolic process IDA
 biological_processGO:0055114 oxidation-reduction process IDA
 biological_processGO:0070989 oxidative demethylation IDA
 biological_processGO:0097267 omega-hydroxylase P450 pathway TAS
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0031090 organelle membrane IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle TAS
 molecular_functionGO:0004497 monooxygenase activity IDA
 molecular_functionGO:0005506 iron ion binding IEA
 molecular_functionGO:0008144 drug binding IDA
 molecular_functionGO:0008392 arachidonic acid epoxygenase activity IBA
 molecular_functionGO:0008395 steroid hydroxylase activity IMP
 molecular_functionGO:0016491 oxidoreductase activity IDA
 molecular_functionGO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA
 molecular_functionGO:0019825 oxygen binding TAS
 molecular_functionGO:0020037 heme binding IEA
 molecular_functionGO:0034875 caffeine oxidase activity IDA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Xenobiotics
CYP2E1 reactions
Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET)
Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)
Biosynthesis of maresin-like SPMs


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001871 Hematological abnormality 
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 HP:0001939 Metabolism abnormality 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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