Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

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
rs9332131	A>-	Other, drug-response	Frameshift variant, coding sequence variant
rs28371685	C>T	Drug-response, likely-benign	Missense variant, coding sequence variant
rs28371686	C>A,G	Drug-response, other	Missense variant, coding sequence variant
rs56165452	T>A,C	Drug-response	Missense variant, coding sequence variant
rs72558191	T>G	Pathogenic	Missense variant, coding sequence variant

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

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
PPARA	Repression	20178979
PPARGC1A	Unknown	16882880

Show/Hide all (56)

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
GO:0005737	Component	Cytoplasm	IBA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006721	Process	Terpenoid metabolic process	IEA
GO:0006805	Process	Xenobiotic metabolic process	IDA	19219744, 19651758
GO:0006805	Process	Xenobiotic metabolic process	IMP	21127708
GO:0006805	Process	Xenobiotic metabolic process	TAS
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008202	Process	Steroid metabolic process	IMP	18356043
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008210	Process	Estrogen metabolic process	IDA	12865317
GO:0008392	Function	Arachidonate epoxygenase activity	IDA	7574697
GO:0008395	Function	Steroid hydroxylase activity	IMP	18356043
GO:0008404	Function	Arachidonate 14,15-epoxygenase activity	IEA
GO:0008405	Function	Arachidonate 11,12-epoxygenase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016098	Process	Monoterpenoid metabolic process	IDA	16401082
GO:0016491	Function	Oxidoreductase activity	IDA	16401082, 19219744
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016705	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA
GO:0016712	Function	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
GO:0016712	Function	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	IEA
GO:0018675	Function	(S)-limonene 6-monooxygenase activity	IEA
GO:0018676	Function	(S)-limonene 7-monooxygenase activity	IEA
GO:0019369	Process	Arachidonate metabolic process	IEA
GO:0019373	Process	Epoxygenase P450 pathway	IBA
GO:0019373	Process	Epoxygenase P450 pathway	IDA	7574697
GO:0019373	Process	Epoxygenase P450 pathway	TAS
GO:0019627	Process	Urea metabolic process	IDA	19029318
GO:0020037	Function	Heme binding	IBA
GO:0020037	Function	Heme binding	IEA
GO:0032787	Process	Monocarboxylic acid metabolic process	IDA	19651758
GO:0032787	Process	Monocarboxylic acid metabolic process	IEA
GO:0034875	Function	Caffeine oxidase activity	IDA	18619574
GO:0042178	Process	Xenobiotic catabolic process	IBA
GO:0042178	Process	Xenobiotic catabolic process	IDA	18619574
GO:0042178	Process	Xenobiotic catabolic process	IMP	18356043
GO:0042759	Process	Long-chain fatty acid biosynthetic process	TAS
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA	9618440
GO:0043231	Component	Intracellular membrane-bounded organelle	TAS	2827463, 3032244
GO:0046456	Process	Icosanoid biosynthetic process	IDA	15766564
GO:0046872	Function	Metal ion binding	IEA
GO:0052741	Function	(R)-limonene 6-monooxygenase activity	IEA
GO:0070989	Process	Oxidative demethylation	IDA	18619574
GO:0090346	Process	Organofluorine metabolic process	IDA	19448135
GO:0097267	Process	Omega-hydroxylase P450 pathway	TAS
GO:0101021	Function	Estrogen 2-hydroxylase activity	IEA

MIM	HGNC	e!Ensembl
601130	2623	ENSG00000138109

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

MDSLVVLVLCLSCLLLLSLWRQSSGRGKLPPGPTPLPVIGNILQIGIKDISKSLTNLSKV
YGPVFTLYFGLKPIVVLHGYEAVKEALIDLGEEFSGRGIFPLAERANRGFGIVFSNGKKW
KEIRRFSLMTLRNFGMGKRSIEDRVQEEARCLVEELRKTKASPCDPTFILGCAPCNVICS
IIFHKRFDYKDQQFLNLMEKLNENIKILSSPWIQICNNFSPIIDYFPGTHNKLLKNVAFM
KSYILEKVKEHQESMDMNNPQDFIDCFLMKMEKEKHNQPSEFTIESLENTAVDLFGAGTE
TTSTTLRYALLLLLKHPEVTAKVQEEIERVIGRNRSPCMQDRSHMPYTDAVVHEVQRYID
LLPTSLPHAVTCDIKFRNYLIPKGTTILISLTSVLHDNKEFPNPEMFDPHHFLDEGGNFK
KSKYFMPFSAGKRICVGEALAGMELFLFLTSILQNFNLKSLVDPKNLDTTPVVNGFASVP
PFYQLCFIPV

Sequence length

490

Interactions

View interactions

	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

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Warfarin response	Pathogenic	rs72558191	RCV000008921

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs1057910, rs1799853	-
Flurbiprofen response	Benign; drug response; Likely benign; other	rs7900194, rs28371686, rs1057910, rs1799853, rs9332131, rs28371685	RCV000787933 RCV000787931 RCV000787930 RCV000787929 RCV000787932 RCV000787934
Glipizide response	drug response; other	rs1057910	RCV000008919
Lesinurad response	Benign; drug response; Likely benign; other	rs7900194, rs28371686, rs1057910, rs1799853, rs9332131, rs28371685	RCV000788097 RCV000788095 RCV000788094 RCV000788093 RCV000788096 RCV000788098
Phenytoin response	drug response; other; Likely benign	rs1057910, rs1799853	RCV000008918 RCV001263463
Piroxicam response	Benign; drug response; Likely benign; other	rs7900194, rs28371686, rs1057910, rs1799853, rs9332131, rs28371685	RCV000788103 RCV000788101 RCV000788100 RCV000788099 RCV000788102 RCV000788104
Pulmonary disease, chronic obstructive, susceptibility to	association	rs9332220, rs1856908	RCV002508834 RCV002508850
Tolbutamide response	drug response; other	rs1057910	RCV000008916

Show/Hide Text Mining Associations (102)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Brain Injuries Traumatic	Associate	28841884
Brain Neoplasms	Associate	16475710
Breast Neoplasms	Associate	14970873, 16475710, 19935798, 20102361, 22702493, 25406731
Carcinogenesis	Associate	29436633
Carcinoma Hepatocellular	Associate	22447115, 25024626, 27203676, 29479826, 30628708, 30720105, 33083480, 33380233, 33988674, 35078445, 36091935, 36199423, 36456877, 36894886, 36994451, 37181808, 40389832, 40621461 View all (3 more)
Carcinoma Hepatocellular	Inhibit	25704921
Carcinoma Squamous Cell	Associate	17373732
Cardiovascular Diseases	Associate	26517138, 32216088, 36787094
Cerebellar Diseases	Associate	23298603
Chemical and Drug Induced Liver Injury	Associate	23863877
Cholestasis	Associate	33039464
Colorectal Neoplasms	Associate	18990750, 19581657, 31740522
Colorectal Neoplasms	Inhibit	20937634
Coronary Artery Disease	Associate	25182955
COVID 19	Stimulate	34473836
Death	Associate	28834238, 29479826
Diabetes Gestational	Associate	37370090
Diabetes Mellitus	Associate	16160068
Diabetes Mellitus	Stimulate	36734157
Diabetes Mellitus Type 2	Associate	20222813, 27181593, 29439084, 32606720, 36734157
Diabetic Retinopathy	Associate	32606720
Diarrhea	Associate	28817838
Disorders of Excessive Somnolence	Associate	25967074
Drug Hypersensitivity Syndrome	Associate	31206740
Drug Overdose	Associate	15790782
Drug Related Side Effects and Adverse Reactions	Associate	18040121, 23287317, 32216088
Drug Resistant Epilepsy	Associate	21985811, 35136381
Ductus Arteriosus Patent	Associate	28609430, 31486736
Embolic Stroke	Associate	37247449
Epilepsy	Associate	17516991, 19855097, 21537551, 23159358, 23298603, 23849849, 27179628, 32868386, 35136381, 8874828
Epilepsy Familial Mesial Temporal Lobe	Associate	28276448
Epilepsy Post Traumatic	Associate	28841884
Episodic Ataxia	Associate	32512653
Epistaxis	Associate	32512653
Esophageal Squamous Cell Carcinoma	Associate	17373732, 31277149
Essential Hypertension	Associate	28513222
Fatty Liver	Associate	35062050
Gastritis	Associate	26517138
Gastrointestinal Hemorrhage	Associate	18950464, 26544900, 36942299
Gastrointestinal Neoplasms	Associate	38554324
Glioblastoma	Associate	36477472
Graft vs Host Disease	Associate	36211438
Head and Neck Neoplasms	Associate	21768671
Heart Valve Diseases	Associate	20653674
Hematoma Subdural	Associate	25298588
Hemorrhage	Associate	14707031, 15578879, 19083245, 19255811, 28689179, 28834238, 30356105, 30595245
Hepatolenticular Degeneration	Associate	34117631
Hodgkin Disease	Associate	19223558
Hyperammonemia	Associate	25967074
Hyperlipoproteinemia Type II	Associate	22847201
Hypertension	Associate	12800253, 16541193, 33541272, 35342886
Hypoglycemia	Associate	21213107, 32606720, 36169244
Idiopathic Pulmonary Fibrosis	Associate	30866412
Inflammation	Associate	27875029
Insulin Resistance	Associate	23159358
Kidney Diseases	Associate	19669737, 32606720
Leukemia Lymphocytic Chronic B Cell	Associate	18061941
Lipoma	Inhibit	28127194
Liver Failure	Associate	23863877, 25332267, 29791065, 36258237
Lymphoma Non Hodgkin	Associate	18061941, 19822571
Metabolic Diseases	Associate	14707031, 23159358
Metabolic Side Effects of Drugs and Substances	Associate	29746595
Musculoskeletal Diseases	Associate	35152405
Myocardial Ischemia	Associate	17220242
Myotoxicity	Associate	15963101
Neoplasms	Associate	16445595, 16475710, 29479826, 30148168, 7547441
Non alcoholic Fatty Liver Disease	Stimulate	19651758
Non alcoholic Fatty Liver Disease	Associate	28127194, 35062050, 38390691
Pain	Associate	25640739
Porphyria Acute Intermittent	Associate	30808393
Prostatic Neoplasms	Associate	40004239
Prostatitis	Associate	10991840
Proteinuria	Associate	19669737
Pulmonary Disease Chronic Obstructive	Associate	32757668
Pulmonary Embolism	Associate	36856592
Pulmonary Fibrosis	Associate	30866412
Rectal Neoplasms	Associate	31740522
Renal Insufficiency	Associate	25640739
Renal Insufficiency Chronic	Associate	38308569
Squamous Cell Carcinoma of Head and Neck	Associate	21768671
Stevens Johnson Syndrome	Associate	25876064
Stroke	Associate	32071341
Subarachnoid Hemorrhage	Associate	32071341
Telangiectasia Hereditary Hemorrhagic	Associate	32512653
Thrombophilia	Associate	30933373
Thrombosis	Associate	24858991, 28033245, 28750087, 30933373
Thyroid Adenoma Hyperfunctioning	Associate	25246753
Tn Syndrome	Associate	35628426
Tooth Erosion	Associate	31616008
Uterine Cervical Neoplasms	Associate	38376298
Venous Thromboembolism	Associate	28689179, 28750087, 28834238
Venous Thrombosis	Associate	28867752

CYP2C9 (cytochrome P450 family 2 subfamily C member 9)