VKORC1 (vitamin K epoxide reductase complex subunit 1)

2009-03-01  

Identity

HGNC
LOCATION
16p11.2
LOCUSID
ALIAS
EDTP308,MST134,MST576,VKCFD2,VKOR

Other Information

Locus ID:

NCBI: 79001
MIM: 608547
HGNC: 23663
Ensembl: ENSG00000167397

Variants:

dbSNP: 79001
ClinVar: 79001
TCGA: ENSG00000167397
COSMIC: VKORC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167397ENST00000300851F8W9H0
ENSG00000167397ENST00000319788Q9BQB6
ENSG00000167397ENST00000354895Q9BQB6
ENSG00000167397ENST00000354895A0A0S2Z5X7
ENSG00000167397ENST00000394971A8MV79
ENSG00000167397ENST00000394975Q9BQB6
ENSG00000167397ENST00000394975A0A0S2Z6I4
ENSG00000167397ENST00000420057H0YF24
ENSG00000167397ENST00000472468I3L1P9
ENSG00000167397ENST00000498155F2Z3Q2

Expression (GTEx)

0
50
100
150
200
250
300
350

Pathways

PathwaySourceExternal ID
Ubiquinone and other terpenoid-quinone biosynthesisKEGGko00130
Ubiquinone and other terpenoid-quinone biosynthesisKEGGhsa00130
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of fat-soluble vitaminsREACTOMER-HSA-6806667
Metabolism of vitamin KREACTOMER-HSA-6806664

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA126CYP2C9GeneDataAnnotation, VipGeneassociated12931134, 14765194, 14765195, 15358623, 15597574, 15865594, 15930419, 15938684, 16888441, 16960144, 16983400, 17124101, 9684798, 11926893
PA153619833Peripheral Vascular DiseasesDiseaseClinicalAnnotationassociatedPKPD15358623, 15883587, 16270629, 16432637, 16676068, 16821005, 17031720, 17111199, 17329985, 17391071, 17989110, 18030307, 18240904, 19077919, 19177029, 20585834, 21176721, 21273734, 21326313, 21981797, 22075505, 22248286, 22534826, 22549502, 23159229, 23183958, 24019055, 25026456, 25989350, 26223945, 26257249, 26433837, 27121899, 28262345, 29054760, 31653973
PA165816542CYP2C9*1HaplotypeLabelAnnotationassociated
PA165816543CYP2C9*2HaplotypeGuidelineAnnotation, LabelAnnotationassociated
PA165816544CYP2C9*3HaplotypeGuidelineAnnotation, LabelAnnotationassociated
PA165816546CYP2C9*5HaplotypeGuidelineAnnotationassociated
PA165816547CYP2C9*6HaplotypeGuidelineAnnotationassociated
PA165816549CYP2C9*8HaplotypeGuidelineAnnotationassociated
PA165816552CYP2C9*11HaplotypeGuidelineAnnotationassociated
PA165816594VKORC1*1HaplotypeVipGeneassociated16270629
PA165816595VKORC1*2HaplotypeVipGeneassociated16270629, 15930419
PA165816596VKORC1*3HaplotypeVipGeneassociated15930419, 16270629, 15358623
PA165816597VKORC1*4HaplotypeVipGeneassociated15930419, 16270629, 16676068, 15358623
PA165980614fluindioneChemicalClinicalAnnotation, GuidelineAnnotationassociatedPD21883387
PA166123298over-anticoagulationDiseaseClinicalAnnotationassociatedPD18690342, 19794411, 21318593, 22571356, 22990331, 23104259, 23279643, 23602689, 23932037, 25769357, 26445138, 28049362
PA166129531time in therapeutic rangeDiseaseClinicalAnnotationassociatedPD18690342, 22592842, 29396738
PA166154157rs12777823VariantGuidelineAnnotationassociated
PA166154977rs7294VariantVipGeneassociated15883587, 16270629, 16424822, 16432637, 16580898, 16676068, 16879214, 17031720, 17049586, 15358623
PA166155091rs9923231VariantGuidelineAnnotation, LabelAnnotation, VipGeneassociated15883587, 15888487, 15930419, 15947090, 16141794, 16270629, 16432637, 16580898, 16611310, 16890578, 17049586, 17161452, 15790782
PA166155096rs9934438VariantGuidelineAnnotation, VipGeneassociated15790782, 15883587, 16270629, 16424822, 16432637, 16676068, 16700826, 16815313, 16879214, 16890578, 17031720, 17049586, 17111199, 15358623
PA166155381rs2108622VariantGuidelineAnnotationassociated
PA27121CYP4F2GeneDataAnnotationassociated
PA28660GGCXGeneDataAnnotationassociated
PA443425ArteriosclerosisDiseaseClinicalAnnotationassociatedPKPD15358623, 15883587, 16270629, 16432637, 16676068, 16821005, 17031720, 17111199, 17329985, 17391071, 17989110, 18030307, 18240904, 19077919, 19177029, 20585834, 21176721, 21273734, 21326313, 21981797, 22075505, 22248286, 22534826, 22549502, 23159229, 23183958, 24019055, 25026456, 25989350, 26223945, 26257249, 26433837, 27121899, 28262345, 29054760, 31653973
PA443459Atrial FibrillationDiseaseClinicalAnnotation, VipGeneassociatedPD18574025, 18690342, 18950464, 21148049, 22571356, 22592842, 23423913, 23602689, 23774101, 24474498, 24919870, 25001883, 25244877, 25521356, 25769357, 26445138, 26777610, 27262824, 27488176, 27581200, 28033245, 28689179, 29432897, 29577257
PA444368Heart DiseasesDiseaseClinicalAnnotation, VariantAnnotationassociatedPKPD15358623, 15883587, 16270629, 16432637, 16676068, 16821005, 17031720, 17111199, 17329985, 17391071, 17989110, 18030307, 18240904, 19077919, 19177029, 20585834, 21176721, 21273734, 21326313, 21981797, 22075505, 22248286, 22534826, 22549502, 23159229, 23183958, 24019055, 25026456, 25989350, 26223945, 26257249, 26433837, 27121899, 28262345, 29054760, 31653973
PA444417HemorrhageDiseaseClinicalAnnotation, VipGeneassociatedPKPD15358623, 15883587, 16270629, 16432637, 16676068, 16821005, 17031720, 17111199, 17329985, 17391071, 17989110, 18030307, 18240904, 19077919, 19177029, 20585834, 21176721, 21273734, 21326313, 21981797, 22075505, 22248286, 22534826, 22549502, 23159229, 23183958, 24019055, 25026456, 25989350, 26223945, 26257249, 26433837, 27121899, 28262345, 29054760, 31653973
PA445019Myocardial InfarctionDiseaseClinicalAnnotationassociatedPKPD15358623, 15883587, 16270629, 16432637, 16676068, 16821005, 17031720, 17111199, 17329985, 17391071, 17989110, 18030307, 18240904, 19077919, 19177029, 20585834, 21176721, 21273734, 21326313, 21981797, 22075505, 22248286, 22534826, 22549502, 23159229, 23183958, 24019055, 25026456, 25989350, 26223945, 26257249, 26433837, 27121899, 28262345, 29054760, 31653973
PA445465Pulmonary EmbolismDiseaseClinicalAnnotationassociatedPKPD15358623, 15883587, 16270629, 16432637, 16676068, 16821005, 17031720, 17111199, 17329985, 17391071, 17989110, 18030307, 18240904, 19077919, 19177029, 20585834, 21176721, 21273734, 21326313, 21981797, 22075505, 22248286, 22534826, 22549502, 23159229, 23183958, 24019055, 25026456, 25989350, 26223945, 26257249, 26433837, 27121899, 28262345, 29054760, 31653973
PA445848ThromboembolismDiseaseClinicalAnnotationassociatedPKPD15358623, 15883587, 16270629, 16432637, 16676068, 16821005, 17031720, 17111199, 17329985, 17391071, 17989110, 18030307, 18240904, 19077919, 19177029, 20585834, 21176721, 21273734, 21326313, 21883387, 21981797, 22075505, 22248286, 22534826, 22549502, 23159229, 23183958, 24019055, 25026456, 25989350, 26223945, 26257249, 26433837, 27121899, 28262345, 29054760, 31653973
PA446021Vascular DiseasesDiseaseVipGeneassociated
PA446900Coagulation Protein DisordersDiseaseVipGeneassociated
PA446969Venous ThrombosisDiseaseClinicalAnnotationassociatedPKPD15358623, 15883587, 16270629, 16432637, 16676068, 16821005, 17031720, 17111199, 17329985, 17391071, 17989110, 18030307, 18240904, 19077919, 19177029, 20585834, 21176721, 21273734, 21326313, 21981797, 22075505, 22248286, 22534826, 22549502, 23159229, 23183958, 24019055, 25026456, 25989350, 26223945, 26257249, 26433837, 27121899, 28262345, 29054760, 31653973
PA446997Intracranial HemorrhagesDiseaseClinicalAnnotationassociatedPKPD15358623, 15883587, 16270629, 16432637, 16676068, 16821005, 17031720, 17111199, 17329985, 17391071, 17989110, 18030307, 18240904, 19077919, 19177029, 20585834, 21176721, 21273734, 21326313, 21981797, 22075505, 22248286, 22534826, 22549502, 23159229, 23183958, 24019055, 25026456, 25989350, 26223945, 26257249, 26433837, 27121899, 28262345, 29054760, 31653973
PA447054StrokeDiseaseClinicalAnnotationassociatedPKPD15358623, 15883587, 16270629, 16432637, 16676068, 16821005, 17031720, 17111199, 17329985, 17391071, 17989110, 18030307, 18240904, 18574025, 18690342, 18950464, 19077919, 19177029, 20585834, 21148049, 21176721, 21273734, 21326313, 21981797, 22075505, 22248286, 22534826, 22549502, 22571356, 22592842, 23159229, 23183958, 23423913, 23602689, 23774101, 24019055, 24474498, 24919870, 25001883, 25026456, 25244877, 25521356, 25769357, 25989350, 26223945, 26257249, 26433837, 26445138, 26777610, 27121899, 27262824, 27488176, 27581200, 28033245, 28262345, 28689179, 29054760, 29432897, 29577257, 31653973
PA447298venous thromboembolismDiseaseClinicalAnnotationassociatedPKPD15358623, 15883587, 16270629, 16432637, 16676068, 16821005, 17031720, 17111199, 17329985, 17391071, 17989110, 18030307, 18240904, 18574025, 18690342, 18950464, 19077919, 19177029, 20585834, 21148049, 21176721, 21273734, 21326313, 21981797, 22075505, 22248286, 22534826, 22549502, 22571356, 22592842, 23159229, 23183958, 23423913, 23602689, 23774101, 24019055, 24474498, 24919870, 25001883, 25026456, 25244877, 25521356, 25769357, 25989350, 26223945, 26257249, 26433837, 26445138, 26777610, 27121899, 27262824, 27488176, 27581200, 28033245, 28262345, 28689179, 29054760, 29432897, 29577257, 31653973
PA450921phenprocoumonChemicalClinicalAnnotation, DataAnnotation, GuidelineAnnotation, MultilinkAnnotation, VipGeneassociatedPD16611310, 16815313, 17596133, 18574025, 18629445, 18690342, 18698879, 18781852, 18950464, 19018719, 19225451, 19270263, 19277427, 19875892, 20020283, 20376629, 20833980, 21057703, 21110013, 21148049, 21636598, 22486182, 22571356, 22592842, 22629463, 22911785, 22920394, 23159639, 23299853, 23423913, 23473641, 23481074, 23602689, 23651023, 23774101, 23774941, 24108193, 24224579, 24474498, 24919870, 24956252, 25001883, 25042728, 25089947, 25244877, 25519826, 25521356, 25769357, 26445138, 26777610, 26984978, 27262824, 27335128, 27488176, 27581200, 28033245, 28689179, 29432897, 29577257, 30983536
PA451906warfarinChemicalClinicalAnnotation, DataAnnotation, GuidelineAnnotation, LabelAnnotation, Literature, MultilinkAnnotation, Pathway, VariantAnnotation, VipGeneassociatedPKPD11926893, 12931134, 14676821, 14765194, 14765195, 15358623, 15597574, 15790782, 15865594, 15883587, 15888487, 15930419, 15938684, 15947090, 16141794, 16270629, 16432637, 16493479, 16580898, 16611310, 16676068, 16815312, 16815313, 16847429, 16888441, 16890578, 16960144, 16983400, 17015052, 17042764, 17049586, 17111199, 17112295, 17124101, 17161452, 17189218, 17906972, 9684798, 11127854, 14765194, 15358623, 15883587, 15888487, 15930419, 15947090, 16270629, 16432637, 16493479, 16580898, 16611750, 16676068, 16821005, 16890578, 16983400, 17031720, 17049586, 17110455, 17111199, 17329985, 17391071, 17456829, 17510308, 17989110, 18030307, 18234403, 18240904, 18466099, 18542936, 18574025, 18690342, 18698879, 18752379, 18950464, 19077919, 19135231, 19177029, 19297219, 19387626, 19582440, 19745563, 19794411, 19874474, 19875892, 20072124, 20203262, 20339978, 20386359, 20410877, 20421126, 20585834, 20615525, 20833655, 20833980, 21110192, 21148049, 21174619, 21176721, 21185752, 21273734, 21318593, 21326313, 21383771, 21635147, 21900891, 21981797, 22010099, 22040439, 22075505, 22248286, 22349464, 22528326, 22534826, 22549502, 22571356, 22592842, 22616655, 22676192, 22854539, 22990331, 23061746, 23104259, 23159229, 23183958, 23208322, 23279643, 23423913, 23602689, 23774101, 23932037, 23949431, 24019055, 24029542, 24330000, 24474498, 24728385, 24919870, 25001883, 25026456, 25042728, 25084205, 25244877, 25312789, 25519826, 25521356, 25594941, 25769357, 25989350, 26219158, 26223945, 26257249, 26433837, 26445138, 26777610, 27121899, 27262824, 27488176, 27581200, 28033245, 28049362, 28262345, 28382498, 28429387, 28689179, 29054760, 29298995, 29396738, 29432897, 29577257, 29781049, 31395958, 31653973
PA452632acenocoumarolChemicalClinicalAnnotation, DataAnnotation, GuidelineAnnotation, Literature, MultilinkAnnotation, VariantAnnotation, VipGeneassociatedPD16611310, 16815313, 17596133, 18574025, 18629445, 18690342, 18698879, 18781852, 18950464, 19018719, 19225451, 19270263, 19277427, 19875892, 20020283, 20376629, 20833980, 21057703, 21110013, 21148049, 21636598, 22486182, 22571356, 22592842, 22629463, 22911785, 22920394, 23159639, 23299853, 23423913, 23473641, 23481074, 23602689, 23651023, 23774101, 23774941, 24108193, 24224579, 24474498, 24919870, 24956252, 25001883, 25042728, 25089947, 25244877, 25519826, 25521356, 25769357, 26445138, 26777610, 26984978, 27262824, 27335128, 27488176, 27581200, 28033245, 28689179, 29432897, 29479633, 29577257, 30983536
PA55APOEGeneDataAnnotationassociated

References

Pubmed IDYearTitleCitations
159304192005Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose.319
159304192005Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose.319
147651942004Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.234
193004992009A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinants of warfarin dose.211
193004992009A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinants of warfarin dose.211
183054552008Use of pharmacogenetic and clinical factors to predict the therapeutic dose of warfarin.202
159470902005The impact of CYP2C9 and VKORC1 genetic polymorphism and patient characteristics upon warfarin dose requirements: proposal for a new dosing regimen.178
159470902005The impact of CYP2C9 and VKORC1 genetic polymorphism and patient characteristics upon warfarin dose requirements: proposal for a new dosing regimen.178
147651952004Identification of the gene for vitamin K epoxide reductase.154
179891102007Randomized trial of genotype-guided versus standard warfarin dosing in patients initiating oral anticoagulation.153

Citation

Dessen P

VKORC1 (vitamin K epoxide reductase complex subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2009-03-01

Online version: http://atlasgeneticsoncology.org/gene/50786/vkorc1