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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	79001
Gene name	Vitamin K epoxide reductase complex subunit 1
Gene symbol	VKORC1
Synonyms (NCBI Gene)	EDTP308MST134MST576VKCFD2VKOR
Chromosome	16
Chromosome location	16p11.2
Summary	This gene encodes the catalytic subunit of the vitamin K epoxide reductase complex, which is responsible for the reduction of inactive vitamin K 2,3-epoxide to active vitamin K in the endoplasmic reticulum membrane. Vitamin K is a required co-factor for c

Show/Hide all (12)

SNP ID	Visualize variation	Clinical significance	Consequence
rs2359612	A>G	Benign, drug-response	Intron variant
rs2884737	A>C	Drug-response	Intron variant
rs8050894	C>A,G,T	Drug-response, likely-benign	Intron variant
rs9923231	C>A,G,T	Drug-response, likely-benign, other	Upstream transcript variant
rs9934438	G>A,C	Benign, drug-response, likely-benign	Intron variant
rs17708472	G>A	Benign, drug-response	Intron variant
rs61742245	C>A,T	Pathogenic, drug-response	Missense variant, coding sequence variant
rs72547529	C>T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs104894539	C>A	Pathogenic	Coding sequence variant, missense variant
rs104894540	A>G	Pathogenic	Coding sequence variant, missense variant
rs104894541	T>C	Pathogenic	Coding sequence variant, missense variant
rs397509427	->C	Drug-response	Upstream transcript variant

168

Show/Hide all (168)

miRTarBase ID	miRNA	Experiments	Reference
MIRT007088	hsa-miR-133a-3p	Luciferase reporter assay	23154637
MIRT007088	hsa-miR-133a-3p	Luciferase reporter assay	23154637
MIRT022348	hsa-miR-124-3p	Microarray	18668037
MIRT051124	hsa-miR-16-5p	CLASH	23622248
MIRT044407	hsa-miR-320a	CLASH	23622248
MIRT043646	hsa-miR-326	CLASH	23622248
MIRT723887	hsa-miR-449b-3p	HITS-CLIP	19536157
MIRT723886	hsa-miR-3155a	HITS-CLIP	19536157
MIRT723885	hsa-miR-3155b	HITS-CLIP	19536157
MIRT723884	hsa-miR-484	HITS-CLIP	19536157
MIRT723883	hsa-miR-1199-5p	HITS-CLIP	19536157
MIRT723882	hsa-miR-6751-3p	HITS-CLIP	19536157
MIRT723881	hsa-miR-4738-3p	HITS-CLIP	19536157
MIRT723880	hsa-miR-6807-5p	HITS-CLIP	19536157
MIRT736482	hsa-miR-133b	qRT-PCR	33083118
MIRT723887	hsa-miR-449b-3p	HITS-CLIP	19536157
MIRT723886	hsa-miR-3155a	HITS-CLIP	19536157
MIRT723885	hsa-miR-3155b	HITS-CLIP	19536157
MIRT723884	hsa-miR-484	HITS-CLIP	19536157
MIRT723883	hsa-miR-1199-5p	HITS-CLIP	19536157
MIRT723882	hsa-miR-6751-3p	HITS-CLIP	19536157
MIRT723881	hsa-miR-4738-3p	HITS-CLIP	19536157
MIRT723880	hsa-miR-6807-5p	HITS-CLIP	19536157
MIRT1485096	hsa-miR-1178	CLIP-seq
MIRT1485097	hsa-miR-1245b-3p	CLIP-seq
MIRT1485098	hsa-miR-1270	CLIP-seq
MIRT1485099	hsa-miR-1276	CLIP-seq
MIRT1485100	hsa-miR-1285	CLIP-seq
MIRT1485101	hsa-miR-133a	CLIP-seq
MIRT1485102	hsa-miR-137	CLIP-seq
MIRT1485103	hsa-miR-1470	CLIP-seq
MIRT1485104	hsa-miR-3144-5p	CLIP-seq
MIRT1485105	hsa-miR-3187-5p	CLIP-seq
MIRT1485106	hsa-miR-3191	CLIP-seq
MIRT1485107	hsa-miR-330-3p	CLIP-seq
MIRT1485108	hsa-miR-3688-3p	CLIP-seq
MIRT1485109	hsa-miR-3688-5p	CLIP-seq
MIRT1485110	hsa-miR-3940-5p	CLIP-seq
MIRT1485111	hsa-miR-3978	CLIP-seq
MIRT1485112	hsa-miR-4257	CLIP-seq
MIRT1485113	hsa-miR-4292	CLIP-seq
MIRT1485114	hsa-miR-4308	CLIP-seq
MIRT1485115	hsa-miR-4455	CLIP-seq
MIRT1485116	hsa-miR-4507	CLIP-seq
MIRT1485117	hsa-miR-4531	CLIP-seq
MIRT1485118	hsa-miR-4641	CLIP-seq
MIRT1485119	hsa-miR-4652-5p	CLIP-seq
MIRT1485120	hsa-miR-4667-3p	CLIP-seq
MIRT1485121	hsa-miR-4690-3p	CLIP-seq
MIRT1485122	hsa-miR-4786-5p	CLIP-seq
MIRT1485123	hsa-miR-4797-5p	CLIP-seq
MIRT1485124	hsa-miR-609	CLIP-seq
MIRT1485125	hsa-miR-612	CLIP-seq
MIRT1485126	hsa-miR-620	CLIP-seq
MIRT1485127	hsa-miR-642a	CLIP-seq
MIRT1485128	hsa-miR-644	CLIP-seq
MIRT2145941	hsa-miR-1207-5p	CLIP-seq
MIRT1485099	hsa-miR-1276	CLIP-seq
MIRT1485101	hsa-miR-133a	CLIP-seq
MIRT2145942	hsa-miR-147b	CLIP-seq
MIRT2145943	hsa-miR-183	CLIP-seq
MIRT1485107	hsa-miR-330-3p	CLIP-seq
MIRT2145944	hsa-miR-3607-5p	CLIP-seq
MIRT2145945	hsa-miR-3621	CLIP-seq
MIRT2145946	hsa-miR-3656	CLIP-seq
MIRT2145947	hsa-miR-4323	CLIP-seq
MIRT1485115	hsa-miR-4455	CLIP-seq
MIRT2145948	hsa-miR-4459	CLIP-seq
MIRT2145949	hsa-miR-4722-5p	CLIP-seq
MIRT2145950	hsa-miR-4736	CLIP-seq
MIRT2145951	hsa-miR-4758-3p	CLIP-seq
MIRT2145952	hsa-miR-4763-3p	CLIP-seq
MIRT2145953	hsa-miR-4779	CLIP-seq
MIRT1485124	hsa-miR-609	CLIP-seq
MIRT2145954	hsa-miR-765	CLIP-seq
MIRT1485096	hsa-miR-1178	CLIP-seq
MIRT2145941	hsa-miR-1207-5p	CLIP-seq
MIRT1485097	hsa-miR-1245b-3p	CLIP-seq
MIRT1485099	hsa-miR-1276	CLIP-seq
MIRT1485100	hsa-miR-1285	CLIP-seq
MIRT1485101	hsa-miR-133a	CLIP-seq
MIRT1485102	hsa-miR-137	CLIP-seq
MIRT1485103	hsa-miR-1470	CLIP-seq
MIRT2145942	hsa-miR-147b	CLIP-seq
MIRT2145943	hsa-miR-183	CLIP-seq
MIRT2366355	hsa-miR-1912	CLIP-seq
MIRT1485104	hsa-miR-3144-5p	CLIP-seq
MIRT1485105	hsa-miR-3187-5p	CLIP-seq
MIRT1485106	hsa-miR-3191	CLIP-seq
MIRT1485107	hsa-miR-330-3p	CLIP-seq
MIRT2145944	hsa-miR-3607-5p	CLIP-seq
MIRT2145945	hsa-miR-3621	CLIP-seq
MIRT2145946	hsa-miR-3656	CLIP-seq
MIRT1485108	hsa-miR-3688-3p	CLIP-seq
MIRT1485111	hsa-miR-3978	CLIP-seq
MIRT2366356	hsa-miR-4284	CLIP-seq
MIRT1485113	hsa-miR-4292	CLIP-seq
MIRT1485114	hsa-miR-4308	CLIP-seq
MIRT2366357	hsa-miR-4313	CLIP-seq
MIRT2366358	hsa-miR-4423-3p	CLIP-seq
MIRT2145948	hsa-miR-4459	CLIP-seq
MIRT1485118	hsa-miR-4641	CLIP-seq
MIRT1485119	hsa-miR-4652-5p	CLIP-seq
MIRT1485120	hsa-miR-4667-3p	CLIP-seq
MIRT1485121	hsa-miR-4690-3p	CLIP-seq
MIRT2366359	hsa-miR-4708-3p	CLIP-seq
MIRT2366360	hsa-miR-4717-3p	CLIP-seq
MIRT2145949	hsa-miR-4722-5p	CLIP-seq
MIRT2145950	hsa-miR-4736	CLIP-seq
MIRT2145952	hsa-miR-4763-3p	CLIP-seq
MIRT2145953	hsa-miR-4779	CLIP-seq
MIRT1485122	hsa-miR-4786-5p	CLIP-seq
MIRT1485123	hsa-miR-4797-5p	CLIP-seq
MIRT1485125	hsa-miR-612	CLIP-seq
MIRT1485127	hsa-miR-642a	CLIP-seq
MIRT2366361	hsa-miR-711	CLIP-seq
MIRT2145954	hsa-miR-765	CLIP-seq
MIRT2145941	hsa-miR-1207-5p	CLIP-seq
MIRT1485097	hsa-miR-1245b-3p	CLIP-seq
MIRT2659896	hsa-miR-1296	CLIP-seq
MIRT1485101	hsa-miR-133a	CLIP-seq
MIRT2145942	hsa-miR-147b	CLIP-seq
MIRT2145943	hsa-miR-183	CLIP-seq
MIRT2366355	hsa-miR-1912	CLIP-seq
MIRT1485107	hsa-miR-330-3p	CLIP-seq
MIRT2145944	hsa-miR-3607-5p	CLIP-seq
MIRT2145945	hsa-miR-3621	CLIP-seq
MIRT2145946	hsa-miR-3656	CLIP-seq
MIRT2366356	hsa-miR-4284	CLIP-seq
MIRT2366357	hsa-miR-4313	CLIP-seq
MIRT2145947	hsa-miR-4323	CLIP-seq
MIRT2366358	hsa-miR-4423-3p	CLIP-seq
MIRT2145948	hsa-miR-4459	CLIP-seq
MIRT2659897	hsa-miR-4512	CLIP-seq
MIRT2366359	hsa-miR-4708-3p	CLIP-seq
MIRT2366360	hsa-miR-4717-3p	CLIP-seq
MIRT2145949	hsa-miR-4722-5p	CLIP-seq
MIRT2145950	hsa-miR-4736	CLIP-seq
MIRT2145951	hsa-miR-4758-3p	CLIP-seq
MIRT2145952	hsa-miR-4763-3p	CLIP-seq
MIRT2145953	hsa-miR-4779	CLIP-seq
MIRT2366361	hsa-miR-711	CLIP-seq
MIRT2145954	hsa-miR-765	CLIP-seq
MIRT2145941	hsa-miR-1207-5p	CLIP-seq
MIRT2659896	hsa-miR-1296	CLIP-seq
MIRT1485101	hsa-miR-133a	CLIP-seq
MIRT2145942	hsa-miR-147b	CLIP-seq
MIRT2145943	hsa-miR-183	CLIP-seq
MIRT2366355	hsa-miR-1912	CLIP-seq
MIRT1485107	hsa-miR-330-3p	CLIP-seq
MIRT2145944	hsa-miR-3607-5p	CLIP-seq
MIRT2145945	hsa-miR-3621	CLIP-seq
MIRT2145946	hsa-miR-3656	CLIP-seq
MIRT2366356	hsa-miR-4284	CLIP-seq
MIRT2366357	hsa-miR-4313	CLIP-seq
MIRT2145947	hsa-miR-4323	CLIP-seq
MIRT2366358	hsa-miR-4423-3p	CLIP-seq
MIRT2145948	hsa-miR-4459	CLIP-seq
MIRT2659897	hsa-miR-4512	CLIP-seq
MIRT2366359	hsa-miR-4708-3p	CLIP-seq
MIRT2366360	hsa-miR-4717-3p	CLIP-seq
MIRT2145949	hsa-miR-4722-5p	CLIP-seq
MIRT2145950	hsa-miR-4736	CLIP-seq
MIRT2145951	hsa-miR-4758-3p	CLIP-seq
MIRT2145952	hsa-miR-4763-3p	CLIP-seq
MIRT2145953	hsa-miR-4779	CLIP-seq
MIRT2366361	hsa-miR-711	CLIP-seq
MIRT2145954	hsa-miR-765	CLIP-seq

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	22046132, 32296183
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	22923610
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006805	Process	Xenobiotic metabolic process	IMP	21127708
GO:0007596	Process	Blood coagulation	IBA
GO:0007596	Process	Blood coagulation	IEA
GO:0007596	Process	Blood coagulation	IMP	16270630
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016728	Function	Oxidoreductase activity, acting on CH or CH2 groups, disulfide as acceptor	IEA
GO:0017187	Process	Peptidyl-glutamic acid carboxylation	IMP	20978134
GO:0042373	Process	Vitamin K metabolic process	IBA
GO:0042373	Process	Vitamin K metabolic process	IDA	17073445
GO:0042373	Process	Vitamin K metabolic process	IDA	16270630, 33154105
GO:0042373	Process	Vitamin K metabolic process	IEA
GO:0042373	Process	Vitamin K metabolic process	IEA
GO:0047057	Function	Vitamin-K-epoxide reductase (warfarin-sensitive) activity	IBA
GO:0047057	Function	Vitamin-K-epoxide reductase (warfarin-sensitive) activity	IDA	16270630, 33154105
GO:0047057	Function	Vitamin-K-epoxide reductase (warfarin-sensitive) activity	IEA
GO:0047058	Function	Vitamin-K-epoxide reductase (warfarin-insensitive) activity	IDA	33154105
GO:0048038	Function	Quinone binding	IEA
GO:0050820	Process	Positive regulation of coagulation	IEA
GO:0060348	Process	Bone development	IEA
GO:0060348	Process	Bone development	ISS

MIM	HGNC	e!Ensembl
608547	23663	ENSG00000167397

Q9BQB6

Protein name

Vitamin K epoxide reductase complex subunit 1 (EC 1.17.4.4) (Vitamin K1 2,3-epoxide reductase subunit 1)

Protein function

Involved in vitamin K metabolism. Catalytic subunit of the vitamin K epoxide reductase (VKOR) complex which reduces inactive vitamin K 2,3-epoxide to active vitamin K. Vitamin K is required for the gamma-carboxylation of various proteins, includ

PDB

6WV3 , 6WV4 , 6WV5 , 6WV6 , 6WV7 , 6WVH

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07884	VKOR	10 → 150	Vitamin K epoxide reductase family	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed at highest levels in fetal and adult liver, followed by fetal heart, kidney, and lung, adult heart, and pancreas. {ECO:0000269|PubMed:14765194}.

Sequence

MGSTWGSPGWVRLALCLTGLVLSLYALHVKAARARDRDYRALCDVGTAISCSRVFSSRWG
RGFGLVEHVLGQDSILNQSNSIFGCIFYTLQLLLGCLRTRWASVLMLLSSLVSLAGSVYL
AWILFFVLYDFCIVCITTYAINVSLMWLSFRKVQEPQGKAKRH

Sequence length

163

Interactions

View interactions

	KEGG		Reactome
	Ubiquinone and other terpenoid-quinone biosynthesis Metabolic pathways Biosynthesis of cofactors		Metabolism of vitamin K

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hereditary combined deficiency of vitamin K-dependent clotting factors	Likely pathogenic	rs72547528	RCV005245479
Vitamin K-dependent clotting factors, combined deficiency of, type 2	Likely pathogenic	rs72547528	RCV000002290
Warfarin response	Pathogenic	rs104894539, rs104894540, rs104894541	RCV000002291 RCV000002292 RCV000002293

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
acenocoumarol response - Dosage	drug response	rs9923231, rs9934438	RCV003227594 RCV000211275
phenprocoumon response - Dosage	drug response	rs9923231, rs9934438	RCV001787364 RCV001787818
phenprocoumon response - Toxicity	drug response	rs9923231	RCV001787365
See cases	drug response	rs9923231	RCV003993732
Thrombus	drug response	rs9923231, rs61742245	RCV003996074 RCV002280858
Venous thromboembolism	drug response	rs9923231	RCV003150805
Vitamin K-Dependent Clotting Factors	Uncertain significance; Benign; drug response	rs886051933, rs569737355, rs201075024, rs9934438	RCV000389417 RCV000398380 RCV000362776 RCV000291997
VKORC1-related disorder	drug response; Uncertain significance; Benign; Likely benign	rs9923231, rs61742245, rs2544125466, rs55894764, rs371197517, rs766549609, rs370105350	RCV003952337 RCV003944792 RCV003402489 RCV003399954 RCV003909254 RCV003959806 RCV003942221
warfarin response - Dosage	drug response	rs9923231, rs61742245, rs7294, rs2359612, rs8050894, rs2884737, rs9934438	RCV003227593 RCV003227596 RCV000211278 RCV000211406 RCV000211369 RCV000211273 RCV000211147
warfarin response - Efficacy	drug response	rs9923231	RCV003227595
warfarin response - Toxicity	drug response	rs9923231	RCV001787366

Show/Hide Text Mining Associations (64)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute Kidney Injury	Associate	38066032
Alzheimer Disease	Associate	33682710
Andersen Syndrome	Associate	23703341
Aneurysm	Associate	15972850
Atherosclerosis	Associate	23703341
Atrial Fibrillation	Associate	29776386, 30371151, 31952675
Blood Coagulation Disorders	Associate	18315553, 25179312, 33730015
Blood Coagulation Disorders Inherited	Associate	16720838
Bone Diseases Metabolic	Associate	21179439, 23703341
Calcinosis	Associate	28212442
Cardiovascular Diseases	Associate	15972850, 37653796
Carotid Stenosis	Associate	32698322, 37653796
Cerebral Infarction	Associate	27703968, 37653796
Cerebral Intraventricular Hemorrhage	Associate	25179312
Coagulation Protein Disorders	Associate	17883698
Coumarin Resistance	Associate	20211925
COVID 19	Associate	33254525
Dementia	Associate	33682710
Dementia Vascular	Associate	33682710
Dental Plaque	Associate	23703341
Drug Overdose	Associate	15790782
Drug Related Side Effects and Adverse Reactions	Associate	30817750
Epilepsy	Associate	30099920
Gastrointestinal Hemorrhage	Associate	18950464, 28338108, 36942299
Glioma	Associate	39443086
Heart Diseases	Associate	32698322
Heart Failure	Associate	33087117
Heart Valve Diseases	Associate	30732170
Hemorrhage	Associate	18315553, 28689179, 37653796
Hypertension	Associate	34026292, 37653796
Hypoxia	Stimulate	27765905
Idiopathic Pulmonary Fibrosis	Associate	30866412
Intracranial Hemorrhages	Associate	30099920
Lupus Erythematosus Systemic	Associate	23124848
Muscular Diseases	Associate	36154845, 39647853
Myocardial Ischemia	Associate	32698322
Neoplasms	Associate	15972850, 20435227, 39443086
Nervous System Diseases	Associate	30099920
Neuroblastoma	Associate	27765905
Neutropenia	Associate	28817838
Osteoarthritis	Associate	34412027
Osteopenic Nonfracture Syndrome	Associate	23703341
Osteoporosis	Associate	21179439, 23703341, 31774873
Osteoporotic Fractures	Associate	23703341
Plaque Atherosclerotic	Associate	23703341
Pulmonary Embolism	Associate	36856592
Pulmonary Fibrosis	Associate	30866412
Severe Acute Respiratory Syndrome	Associate	33730015
Stroke	Associate	31293107, 32071341
Subarachnoid Hemorrhage	Associate	32071341
Thromboembolism	Associate	25069476
Thrombosis	Associate	22065003, 23124848, 24858991, 28033245, 30933373
Tomaculous neuropathy	Associate	18315553
Tuberculosis	Associate	25069476
Varicose Veins	Associate	25976278, 28338108
Vascular Calcification	Associate	24288433
Vascular Diseases	Associate	17883698
Venous Thromboembolism	Associate	17883698, 28689179, 38045109
Venous Thrombosis	Associate	23124848, 25976278, 28867752
Vitamin K Deficiency	Associate	30099920
Vitamin K Deficiency Bleeding	Associate	30099920
Vitamin K Dependent Clotting Factors Combined Deficiency Of 1	Associate	19116367
Vitamin K Dependent Clotting Factors Combined Deficiency Of Type 2	Stimulate	18315553
Vitamin K Dependent Clotting Factors Combined Deficiency Of Type 2	Associate	18315553

VKORC1 (vitamin K epoxide reductase complex subunit 1)