CYP2C9 (cytochrome P450 family 2 subfamily C member 9)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1559
Gene name Gene Name - the full gene name approved by the HGNC.
Cytochrome P450 family 2 subfamily C member 9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CYP2C9
Synonyms (NCBI Gene) Gene synonyms aliases
CPC9, CYP2C, CYP2C10, CYPIIC9, P450-2C9, P450IIC9
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q23.33
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 EMSA, Luciferase reporter assay, qRT-PCR, Western blot 25704921
MIRT732402 hsa-miR-128-3p EMSA, Luciferase reporter assay, qRT-PCR, Western blot 25704921
MIRT732402 hsa-miR-128-3p EMSA, Luciferase reporter assay, qRT-PCR, Western blot 25704921
MIRT732406 hsa-miR-130b-3p Luciferase reporter assay, qRT-PCR, Western blot 25802328
MIRT732406 hsa-miR-130b-3p Luciferase reporter assay, qRT-PCR, Western blot 25802328
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(7)
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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(42)
GO ID Ontology Definition Evidence Reference
GO:0004497 Function Monooxygenase activity IDA 15766564, 19651758
GO:0004497 Function Monooxygenase activity NAS 2827463
GO:0005506 Function Iron ion binding IEA
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005789 Component Endoplasmic reticulum membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601130 2623 ENSG00000138109
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Cardiomyopathy Cardiomyopathies, Primary, Cardiomyopathies rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377
View all (900 more)		 16580879
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Brain neoplasms Brain Neoplasms, Malignant neoplasm of brain, Benign neoplasm of brain, unspecified, Brain Tumor, Primary, Recurrent Brain Neoplasm, Primary malignant neoplasm of brain 16475710 ClinVar
Mental depression Unipolar Depression, Major Depressive Disorder 23081704, 17635185, 14583800, 21861666 ClinVar
Show/Hide Text Mining Associations (102)
Associations from Text Mining
Disease Name Relationship Type References
Acute Coronary Syndrome Associate 31952675, 36787094
Adenocarcinoma of Lung Associate 33050938
Adenoma Associate 19233181, 23081681
Anemia Sickle Cell Associate 24889181, 25640739
Arthritis Juvenile Associate 31616008
Arthritis Rheumatoid Associate 21516380
Atherosclerosis Associate 23159358
Atrial Fibrillation Associate 19255811, 30371151, 31952675
Barrett Esophagus Associate 10933049
Behcet Syndrome Associate 27875029