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VKORC1 Gene

protein-coding   GIFtS: 63
GCID: GC16M031105

Vitamin K Epoxide Reductase Complex, Subunit 1

(Previous name: vitamin K dependent clotting factors deficiency 2)
(Previous symbol: VKCFD2)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Vitamin K Epoxide Reductase Complex, Subunit 11 2     IMAGE34552002
VKCFD21 2 5     MST1342
VKOR2 3 5     MST5762
Vitamin K Dependent Clotting Factors Deficiency 21 2     Phylloquinone Epoxide Reductase2
Vitamin K1 2,3-Epoxide Reductase Subunit 12 3     Vitamin K Epoxide Reductase Complex Subunit 12
EC 1.1.4.13 8     Vitamin K1 Epoxide Reductase (Warfarin-Sensitive)2
EDTP3082     FLJ002895

External Ids:    HGNC: 236631   Entrez Gene: 790012   Ensembl: ENSG000001673977   OMIM: 6085475   UniProtKB: Q9BQB63   

Export aliases for VKORC1 gene to outside databases

Previous GC identifers: GC16M031138 GC16M031009 GC16M028663


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for VKORC1 Gene:
Vitamin K is essential for blood clotting but must be enzymatically activated. This enzymatically activated form
of vitamin K is a reduced form required for the carboxylation of glutamic acid residues in some blood-clotting
proteins. The product of this gene encodes the enzyme that is responsible for reducing vitamin K 2,3-epoxide to
the enzymatically activated form. Fatal bleeding can be caused by vitamin K deficiency and by the vitamin K
antagonist warfarin, and it is the product of this gene that is sensitive to warfarin. In humans, mutations in
this gene can be associated with deficiencies in vitamin-K-dependent clotting factors and, in humans and rats,
with warfarin resistance. Two pseudogenes have been identified on chromosome 1 and the X chromosome. Two
alternatively spliced transcripts encoding different isoforms have been described. (provided by RefSeq, Jul 2008)

GeneCards Summary for VKORC1 Gene:
VKORC1 (vitamin K epoxide reductase complex, subunit 1) is a protein-coding gene. Diseases associated with VKORC1 include warfarin resistance, and vitamin k-dependent clotting factors, combined deficiency of, 2. GO annotations related to this gene include vitamin-K-epoxide reductase (warfarin-sensitive) activity. An important paralog of this gene is ENSG00000255439.

UniProtKB/Swiss-Prot: VKOR1_HUMAN, Q9BQB6
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

Gene Wiki entry for VKORC1 Gene

PharmGKB "VIP" summary for VKORC1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000016.10  NC_018927.2  NT_187260.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the VKORC1 gene promoter:
         SRF   Pax-5   SRF (504 AA)   Brachyury   E47   POU2F1   COMP1   POU2F1a   SEF-1 (1)   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): VKORC1 promoter sequence
   Search Chromatin IP Primers for VKORC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat VKORC1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p11.2   Ensembl cytogenetic band:  16p11.2   HGNC cytogenetic band: 16p11.2

VKORC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VKORC1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M031105:  view genomic region     (about GC identifiers)

Start:
31,102,163 bp from pter      End:
31,107,301 bp from pter
Size:
5,139 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: VKOR1_HUMAN, Q9BQB6 (See protein sequence)
Recommended Name: Vitamin K epoxide reductase complex subunit 1  
Size: 163 amino acids; 18235 Da
Miscellaneous: The location of two cysteine active-site residues within a proposed transmembrane is consistent
both with the known hydrophobic environment of the thiol redox site of the enzyme and with the lipophilicity of
vitamin K and warfarin
Sequence caution: Sequence=AAQ88821.1; Type=Erroneous initiation;
Secondary accessions: A6NIQ6 B2R4Z6 Q6UX90 Q7Z2R4
Alternative splicing: 3 isoforms:  Q9BQB6-1   Q9BQB6-2   Q9BQB6-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for VKORC1: NX_Q9BQB6

Explore proteomics data for VKORC1 at MOPED

3 DME Specific Peptides for VKORC1 (Q9BQB6)
 LNQSNSIFGC  YLAWILFFVLYDFCIVCITTYAIN  YRALCDVGTAISCSRVFSSRWGRGFGLVEH 


See VKORC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts): 
NP_076869.1  NP_996560.1  

ENSEMBL proteins: 
 ENSP00000300851   ENSP00000326135   ENSP00000346969   ENSP00000378426   ENSP00000437064  
 ENSP00000378422   ENSP00000417662   ENSP00000458994  
Reactome Protein details: Q9BQB6

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR012932 VKOR

Graphical View of Domain Structure for InterPro Entry Q9BQB6

ProtoNet protein and cluster: Q9BQB6

1 Blocks protein domain: IPB012932 Vitamin K epoxide reductase

UniProtKB/Swiss-Prot: VKOR1_HUMAN, Q9BQB6
Similarity: Belongs to the VKOR family


VKORC1 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: VKOR1_HUMAN, Q9BQB6
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
Catalytic activity: 2-methyl-3-phytyl-1,4-naphthoquinone + oxidized dithiothreitol =
2,3-epoxy-2,3-dihydro-2-methyl-3-phytyl-1,4-naphthoquinone + 1,4-dithiothreitol

     Enzyme Number (IUBMB): EC 1.1.4.11 2

     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0047057vitamin-K-epoxide reductase (warfarin-sensitive) activity IEA--
     
VKORC1 for ontologies           About GeneDecksing


Phenotypes:
     1 GenomeRNAi human phenotype for VKORC1:
 Increased G1 DNA content 

     1 MGI mutant phenotype (inferred from 2 alleles(MGI details for Vkorc1):
 homeostasis/metabolism 

VKORC1 for phenotypes           About GeneDecksing

Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for VKORC1
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miRTarBase miRNAs that target VKORC1:
hsa-mir-320a (MIRT044407), hsa-mir-16-5p (MIRT051124), hsa-mir-326 (MIRT043646), hsa-mir-133a-3p (MIRT007088), hsa-mir-124-3p (MIRT022348)

Block miRNA regulation of human, mouse, rat VKORC1 using miScript Target Protectors
4 qRT-PCR Assays for microRNAs that regulate VKORC1:
hsa-miR-137 hsa-miR-133a hsa-miR-330-3p hsa-miR-133b
SwitchGear 3'UTR luciferase reporter plasmidVKORC1 3' UTR sequence
Inhib. RNA
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VKORC1


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
VKOR1_HUMAN, Q9BQB6: Endoplasmic reticulum membrane; Multi-pass membrane protein
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
endoplasmic reticulum5
extracellular2
plasma membrane2
chloroplast1
cytosol1

Gene Ontology (GO): 2 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005789endoplasmic reticulum membrane TAS--
GO:0016021integral component of membrane IEA--

VKORC1 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for VKORC1 About                                                                                                See pathways by source

SuperPathContained pathways About
1PTM- gamma carboxylation, hypusine formation and arylsulfatase activation
PTM- gamma carboxylation, hypusine formation and arylsulfatase activation0.31
Gamma-carboxylation, transport, and amino-terminal cleavage of proteins0.00
Warfarin Pathway, Pharmacodynamics0.31
2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
Post-translational protein modification0.43
Metabolism of proteins0.30
3Ubiquinol biosynthesis
Ubiquinone and other terpenoid-quinone biosynthesis0.42

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


1 Reactome Pathway for VKORC1
    Gamma-carboxylation, transport, and amino-terminal cleavage of proteins

1 PharmGKB Pathway for VKORC1
    Warfarin Pathway, Pharmacodynamics

1 Kegg Pathway  (Kegg details for VKORC1):
    Ubiquinone and other terpenoid-quinone biosynthesis


VKORC1 for pathways           About GeneDecksing

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for VKORC1
Interactions:

    GeneGlobe Interaction Network for VKORC1

1 Interacting protein for VKORC1 (Q9BQB63) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
CREB3O438893I2D: score=1 
About this table

Gene Ontology (GO): 4 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0017144drug metabolic process IMP--
GO:0017187peptidyl-glutamic acid carboxylation TAS--
GO:0043687post-translational protein modification TAS--
GO:0044267cellular protein metabolic process TAS--

VKORC1 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for VKORC1 (VKOR1)

8 HMDB Compounds for VKORC1    About this table
CompoundSynonyms CAS #PubMed Ids
1,4-Dithiothreitol ----
2,3-Butanediol2,3-Butandiol (see all 8)513-85-9--
Glucosylceramide (d18:1/16:0)1-O-b-D-glucopyranosyl-Ceramide (see all 8)85305-87-9--
MenadioneVitamin K3: 1,4-Dihydro-1,4-dioxo-2-methylnaphthalene (see all 49)58-27-5--
Vitamin K12',3'-trans-Vitamin K1 (see all 36)12001-79-5--
Vitamin K1 2,3-epoxide(2,3-Epoxyphytyl)menaquinone (see all 10)25486-55-9--
Warfarin(phenyl-1 acetyl-2 ethyl) 3-hydroxy-4 coumarin (see all 105)81-81-2--
WaterDihydrogen oxide (see all 2)7732-18-5--

6 DrugBank Compounds for VKORC1    About this table
CompoundSynonyms CAS #TypeActionsPubMed Ids
AcenocoumarolAcenocoumarin (see all 7)152-72-7targetinhibitor15790782 16815313 11752352 16869821 16611310 17596133 19515014
Warfarin-- 81-81-2targetinhibitor17653141 17510308 11752352 17161452 17275317 17413769
PhenprocoumonFenprocumone [DCIT] (see all 5)435-97-2targetinhibitor2706010 16201835 3207986 11752352 17192772
DicumarolBis-Hydroxycoumarin (see all 4)66-76-2targetinhibitor2424118 17139284 11752352 17016423
Menadione2-Methyl-1,4-Naphthalenedione (see all 7)58-27-5targetcofactor17139284 16102054 17016423 16677080
Phenindione-- 83-12-5targetinhibitor9465843 17139284 11752352 17016423

Selected Novoseek inferred chemical compound relationships for VKORC1 gene (see all 14)    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
vitamin k epoxide 99.3 229 2342073 (4), 16270630 (4), 19181737 (2), 17182266 (2) (see all 99)
vitamin k hydroquinone 93.3 7 16081695 (1), 20110994 (1), 16270630 (1), 9360981 (1) (see all 7)
warfarin 92.4 373 18680536 (8), 16513444 (6), 16890578 (6), 19077919 (5) (see all 99)
acenocoumarol 87.5 28 16869821 (3), 16611310 (3), 20020283 (3), 19225451 (3) (see all 11)
coumarin 78.4 39 16270630 (4), 17849045 (3), 17124101 (2), 18278162 (2) (see all 11)
coumarins 77.4 15 17635701 (2), 20205664 (1), 19324988 (1), 18278162 (1) (see all 12)
phenprocoumon 76.3 10 19319511 (3), 20020283 (3), 17955831 (1), 20376629 (1) (see all 6)
vitamin k1 72 3 19297519 (1)
epoxide 60.2 8 15972850 (1), 18998206 (1), 19297519 (1), 16270630 (1) (see all 8)
r-warfarin 59.8 1 16879214 (1)

4 PharmGKB related drug/compound annotations for VKORC1 gene    About this table
Drug/compound PharmGKB Annotation
acenocoumarol  CA  
fluindioneCA  
phenprocoumon  CA  
warfarin  CA  



VKORC1 for compounds           About GeneDecksing



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for VKORC1 gene (2 alternative transcripts): 
NM_024006.4  NM_206824.1  

Unigene Cluster for VKORC1:

Vitamin K epoxide reductase complex, subunit 1
Hs.324844  [show with all ESTs]
Unigene Representative Sequence: CD251196
8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000300851 ENST00000319788(uc002eau.3) ENST00000354895(uc002eat.3)
ENST00000394975(uc002eas.3) ENST00000420057 ENST00000394971 ENST00000498155
ENST00000472468
Congresses - knowledge worth sharing:
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA
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4 qRT-PCR Assays for microRNAs that regulate VKORC1:
hsa-miR-137 hsa-miR-133a hsa-miR-330-3p hsa-miR-133b
SwitchGear 3'UTR luciferase reporter plasmidVKORC1 3' UTR sequence
Inhib. RNA
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GenScript: all cDNA clones in your preferred vector (see all 2): VKORC1 (NM_024006)
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  QuantiTect SYBR Green Assays in human, mouse, rat VKORC1
  QuantiFast Probe-based Assays in human, mouse, rat VKORC1

Additional mRNA sequence: 

AF176924.1 AK129513.1 AK289790.1 AK312005.1 AY423044.1 AY466113.1 AY521634.1 BC000828.1 
BC002911.2 

9 DOTS entries:

DT.100661283  DT.101972440  DT.97869834  DT.100661277  DT.95285781  DT.100661278  DT.91759743  DT.444354 
DT.100661280 

Selected AceView cDNA sequences (see all 429):

BU626701 AI869708 AI915437 CB126161 CA940990 BQ054509 BG034488 F30350 
AA553820 BQ924237 BX396175 CA943515 BM697994 AI919010 CR618714 NM_024006 
CR623242 BU156444 AY423044 CA867499 CA841177 AW404352 AI220792 BM557143 

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for VKORC1    About this scheme

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c · 4d
SP1:                          -     -                                       
SP2:                          -     -           -                           
SP3:                          -                 -                           
SP4:                          -     -     -     -                           
SP5:                                            -                           


ECgene alternative splicing isoforms for VKORC1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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VKORC1 expression in normal human tissues (normalized intensities)      VKORC1 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GGCTGGTCTC
VKORC1 Expression
About this image


VKORC1 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 5) fully expand
 
 Brain (Nervous System)    fully expand to see all 4 entries
         Cerebral Cortex
 
 Pancreas (Endocrine System)
         Islets of Langerhans
 
 Liver (Hepatobiliary System)
         Hepatocytes Liver Lobule
 
 Ovary (Reproductive System)
         Oviduct
 
 Testis (Reproductive System)
         Leydig Cells Testis Interstitium
VKORC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

VKORC1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.324844

UniProtKB/Swiss-Prot: VKOR1_HUMAN, Q9BQB6
Tissue specificity: Expressed at highest levels in fetal and adult liver, followed by fetal heart, kidney, and
lung, adult heart, and pancreas

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In Situ
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VKORC1

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for VKORC1 gene from Selected species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Vkorc11 , 5 vitamin K epoxide reductase complex, subunit 11, 5 83.02(n)1
85.71(a)1
  7 (69.81 cM)5
279731  NM_178600.21  NP_848715.11 
 1278930675 
African clawed frog
(Xenopus laevis)
Amphibia LOC3984672 hypothetical protein LOC398467 68.2(n)    BC043742.1 
zebrafish
(Danio rerio)
Actinopterygii vkorc11 vitamin K epoxide reductase complex, subunit 1 56.04(n)
53.75(a)
  100000559  XM_001336424.4  XP_001336460.1 
fruit fly
(Drosophila melanogaster)
Insecta Vkor1 Vitamin-K epoxide reductase 47.49(n)
39.04(a)
  3346188  NM_001014533.2  NP_001014533.1 


ENSEMBL Gene Tree for VKORC1 (if available)
TreeFam Gene Tree for VKORC1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for VKORC1 gene
ENSG000002554392  VKORC1L12  
1 SIMAP similar gene for VKORC1 using alignment to 9 protein entries:     VKOR1_HUMAN (see all proteins):
VKORC1L1

VKORC1 for paralogs           About GeneDecksing


1 Pseudogenes.org Pseudogene for VKORC1
PGOHUM00000241688


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for VKORC1 (see all 163)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 16 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1048945421,2,,4
CCoumarin resistance (CMRES)4 pathogenic132103760(-) CGTGCA/C/G/
        
CTATG
4 R L A mis1 syn10--------
rs725475291,2,,4
C,FCoumarin resistance (CMRES)4 --32105916(+) CTCCAC/TCAGCC 3 M V mis1 int11Minor allele frequency- T:0.00NA 4550
rs1048945411,2,,4
CCoumarin resistance (CMRES)4 pathogenic132107075(-) CCTCCA/C/G/
        
GGTGT
4 R G mis10--------
rs1048945401,2,,4
CCoumarin resistance (CMRES)4 pathogenic132107113(-) CGACGA/C/G/
        
GGGCA
4 A V mis10--------
rs1048945391,2,,4
CCoumarin resistance (CMRES)4 pathogenic132107162(-) TGCACG/TTGAAG 4 V L mis10--------
VAR_0657954
Coumarin resistance (CMRES)4--see VAR_0657952 N S mis40--------
VAR_0657884
Coumarin resistance (CMRES)4--see VAR_0657882 S W mis40--------
VAR_0657904
Coumarin resistance (CMRES)4--see VAR_0657902 W C mis40--------
VAR_0657984
Coumarin resistance (CMRES)4--see VAR_0657982 Y H mis40--------
VAR_0657914
Coumarin resistance (CMRES)4--see VAR_0657912 W L mis40--------

HapMap Linkage Disequilibrium report for VKORC1 (31102163 - 31107301 bp)

Structural Variations
     Database of Genomic Variants (DGV) 6 variations for VKORC1:    About this table    
Variant IDTypeSubtypePubMed ID
nsv905729CNV Loss21882294
dgv2670n71CNV Loss21882294
nsv457483CNV Loss19166990
dgv2672n71CNV Loss21882294
esv999616CNV Gain20482838
nsv833193CNV Gain+Loss17160897

Human Gene Mutation Database (HGMD): VKORC1
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing VKORC1
DNA2.0 Custom Variant and Variant Library Synthesis for VKORC1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 608547   
OMIM disorders: 607473  122700  
UniProtKB/Swiss-Prot: VKOR1_HUMAN, Q9BQB6
  • Combined deficiency of vitamin K-dependent clotting factors 2 (VKCFD2) [MIM:607473]: VKCFD leads to a
    bleeding tendency that is usually reversed by oral administration of vitamin K. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Coumarin resistance (CMRES) [MIM:122700]: A condition characterized by partial or complete resistance to
    warfarin or other 4-hydroxycoumarin derivatives. These drugs are used as anti-coagulants for the prevention of
    thromboembolic diseases in subjects with deep vein thrombosis, atrial fibrillation, or mechanical heart valve
    replacement. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for VKORC1 (see all 38):    About MalaCards
    warfarin resistance    vitamin k-dependent clotting factors, combined deficiency of, 2    diffuse alveolar hemorrhage    vitamin k-dependent coagulation defect
    coumarin resistance    vitamin k deficiency hemorrhagic disease    warfarin sensitivity    hemorrhagic disease
    portal vein thrombosis    pseudoxanthoma elasticum    venous thromboembolism    pulmonary embolism
    coronary heart disease    antiphospholipid syndrome    retinal vein occlusion    thromboembolism
    venous thrombosis    atherosclerosis    osteoporosis    vascular disease

    1 disease from the University of Copenhagen DISEASES database for VKORC1:
    Vitamin K deficiency hemorrhagic disease

    VKORC1 for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for VKORC1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    warfarin resistance 92.6 18 14765194 (2), 18680536 (2), 15630486 (2), 18266023 (2) (see all 9)
    coagulation factor deficiency 78.6 5 16720838 (1), 14765194 (1), 16270630 (1), 19116367 (1)
    bleeding 53.3 16 16201835 (3), 20362363 (3), 20121287 (2), 20205664 (1) (see all 11)
    stroke 16.7 15 18841283 (6), 16549638 (3), 20193673 (2), 17049586 (1) (see all 6)
    aortic dissection 9.05 5 16549638 (3), 17549303 (1)
    tumors 0.54 1 15972850 (1)
    atherosclerosis 0 2 16549638 (1)
    coronary heart disease 0 7 16549638 (3), 17549303 (2), 18841283 (1)

    Genetic Association Database (GAD): VKORC1
    Human Genome Epidemiology (HuGE) Navigator: VKORC1 (212 documents)

    Export disorders for VKORC1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for VKORC1 gene, integrated from 10 sources (see all 378):
    (articles sorted by number of sources associating them with VKORC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The c.-1639G &gt; A polymorphism of the VKORC1 gene is a major determinant of the response to acenocoumarol in anticoagulated patients. (PubMed id 16611310)1, 4, 7, 9 Montes R....Hermida J. (Br. J. Haematol. 2006)
    2. Cytochrome P450 2C9 (CYP2C9) and vitamin K epoxide reductase (VKORC1) genotypes as determinants of acenocoumarol sensitivity. (PubMed id 15790782)1, 4, 7, 9 Bodin L....Loriot M.A. (Blood 2005)
    3. A C1173T dimorphism in the VKORC1 gene determines coumarin sensitivity and bleeding risk. (PubMed id 16201835)1, 4, 7, 9 Reitsma P.H....BA1ller H.R. (PLoS Med. 2005)
    4. Influence of CYP2C9 and VKORC1 1173C/T genotype on the risk of hemorrhagic complications in African-American and European-American patients on warfarin. (PubMed id 17653141)1, 4, 7 Limdi N.A....Acton R.T. (Clin. Pharmacol. Ther. 2008)
    5. Estimation of warfarin maintenance dose based on VKORC1 (-1639 G&gt;A) and CYP2C9 genotypes. (PubMed id 17510308)1, 4, 7 Zhu Y....Linder M.W. (Clin. Chem. 2007)
    6. Plasma S/R ratio of warfarin co-varies with VKORC1 haplotype. (PubMed id 17413769)1, 4, 7 Osman A....Lindahl T.L. (amp 2007)
    7. The genetic interaction between VKORC1 c1173t and calumenin a29809g modulates the anticoagulant response of acenocoumarol. (PubMed id 17596133)1, 4, 7 GonzA!lez-Conejero R....Vicente V. (J. Thromb. Haemost. 2007)
    8. VKORC1 and CYP2C9 genotypes and phenprocoumon anticoagulation status: interaction between both genotypes affects dose requirement. (PubMed id 17192772)1, 4, 7 Schalekamp T....de Boer A. (Clin. Pharmacol. Ther. 2007)
    9. VKORC1 and CYP2C9 genotypes and acenocoumarol anticoagulation status: interaction between both genotypes affects overanticoagulation. (PubMed id 16815313)1, 4, 7 Schalekamp T....de Boer A. (Clin. Pharmacol. Ther. 2006)
    10. Vitamin K epoxide reductase complex subunit 1 (VKORC1): the key protein of the vitamin K cycle. (PubMed id 16677080)1, 7, 9 Oldenburg J....Watzka M. (amp 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 79001 HGNC: 23663 AceView: VKORC1 Ensembl:ENSG00000167397 euGenes: HUgn79001
    ECgene: VKORC1 Kegg: 79001 H-InvDB: VKORC1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for VKORC1 Pharmacogenomics, SNPs, Pathways
    SeattleSNPshttp://pga.gs.washington.edu/data/vkorc1/

    (Patent information from GeneIP,
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    Patent Information for VKORC1 gene:
    Search GeneIP for patents involving VKORC1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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