CYP2C9 (cytochrome P450 family 2 subfamily C member 9)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1559
Gene name Cytochrome P450 family 2 subfamily C member 9
Gene symbol CYP2C9
Synonyms (NCBI Gene)
CPC9CYP2CCYP2C10CYPIIC9P450-2C9P450IIC9
Chromosome 10
Chromosome location 10q23.33
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 local
SNPs SNP information provided by dbSNP.
10
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (10)
SNP ID Visualize variation Clinical significance Consequence
rs1057910 A>C,G Other, drug-response Coding sequence variant, missense variant
rs1799853 C>T Other, drug-response, likely-benign Coding sequence variant, missense variant
rs4917639 A>C,T Drug-response Intron variant
rs7089580 A>G,T Drug-response Intron variant
rs7900194 G>A,C,T Drug-response Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (5)
miRTarBase ID miRNA Experiments Reference
MIRT732402 hsa-miR-128-3p EMSALuciferase reporter assayqRT-PCRWestern blot 25704921
MIRT732402 hsa-miR-128-3p EMSALuciferase reporter assayqRT-PCRWestern blot 25704921
MIRT732402 hsa-miR-128-3p EMSALuciferase reporter assayqRT-PCRWestern blot 25704921
MIRT732406 hsa-miR-130b-3p Luciferase reporter assayqRT-PCRWestern blot 25802328
MIRT732406 hsa-miR-130b-3p Luciferase reporter assayqRT-PCRWestern blot 25802328
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
HNF4A Activation 15919766;16540586;18552123;20086032
HNF4A Unknown 16882880
NCOA6 Unknown 21292004
NR1I2 Unknown 16749864;18096673;21292004
NR1I3 Unknown 15919766;16749864
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0004497 Function Monooxygenase activity IDA 15766564, 19651758
GO:0004497 Function Monooxygenase activity IEA
GO:0004497 Function Monooxygenase activity NAS 2827463
GO:0004497 Function Monooxygenase activity TAS
GO:0005506 Function Iron ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601130 2623 ENSG00000138109
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P11712
Protein name Cytochrome P450 2C9 (EC 1.14.14.1) ((R)-limonene 6-monooxygenase) (EC 1.14.14.53) ((S)-limonene 6-monooxygenase) (EC 1.14.14.51) ((S)-limonene 7-monooxygenase) (EC 1.14.14.52) (CYPIIC9) (Cholesterol 25-hydroxylase) (Cytochrome P-450MP) (Cytochrome P450 MP
Protein function A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids and steroids (PubMed:12865317, PubMed:15766564, PubMed:19965576, PubMed:21576599, PubMed:7574697, PubMed:9435160, PubMed:9866708).
PDB 1OG2 , 1OG5 , 1R9O , 4NZ2 , 5A5I , 5A5J , 5K7K , 5W0C , 5X23 , 5X24 , 5XXI , 6VLT , 7RL2 , 8VX0 , 8VZ7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00067 p450 30 → 487 Cytochrome P450 Domain
Sequence
Sequence length 490
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Arachidonic acid metabolism
Linoleic acid metabolism
Retinol metabolism
Metabolism of xenobiotics by cytochrome P450
Drug metabolism - cytochrome P450
Metabolic pathways
Serotonergic synapse
Chemical carcinogenesis - DNA adducts
Lipid and atherosclerosis 		  Xenobiotics
CYP2E1 reactions
Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET)
Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)
Biosynthesis of maresin-like SPMs
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Warfarin response Pathogenic rs72558191 RCV000008921
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (22)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISM SPECTRUM DISORDER — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRAIN NEOPLASMS — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COUMARIN RESISTANCE — CTD, HPO
CTD, HPO
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (202)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Cerebrovascular Accidents Stroke BEFREE 24974237
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 25699611
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Kidney Insufficiency Acute Kidney Insufficiency CTD_human_DG 19814645
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 15290664, 23081681
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 15290664, 17085674, 19233181, 20375710, 23081681, 24414392
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 19223558
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Sickle Cell Sickle cell anemia Pubtator 24889181, 25640739 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 28403136
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 17868191, 19652664, 23159358, 28794002
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Juvenile Juvenile arthritis Pubtator 31616008 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only