VWF Gene
protein-coding GIFtS : 73 GCID: GC12 M006058
von Willebrand factor F8VWF )
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Aliasesfor VWF gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Von Willebrand Factor 1 2 F8VWF1 2 3 VWD2 Coagulation Factor VIII VWF2 VWF1 F85
Export aliases for VWF gene to outside databases Previous GC identifers: GC12M005930 GC12M005928 GC12M005917
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Summariesfor VWF gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for VWF : The glycoprotein encoded by this gene functions as both an antihemophilic factor carrier and a platelet-vessel wall mediator in the blood coagulation system. It is crucial to the hemostasis process. Mutations in this gene or deficiencies in this protein result in von Willebrand's disease. An unprocessed pseudogene has been found on chromosome 22. (provided by RefSeq, Jul 2008) UniProtKB/Swiss-Prot: VWF_HUMAN, P04275 Function : Important in the maintenance of hemostasis, it promotes adhesion of platelets to the sites of vascular injuryby forming a molecular bridge between sub-endothelial collagen matrix and platelet-surface receptor complex GPIb-IX-V. Also acts as a chaperone for coagulation factor VIII, delivering it to the site of injury, stabilizing its heterodimeric structure and protecting it from premature clearance from plasma Gene Wiki entry for VWF (Von Willebrand factor)
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Genomic Viewsfor VWF gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,miRBase ,UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000012.11 NC_018923.1 NT_009759.16 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the VWF gene promoter:AML1a Chx10 MyoD GATA-1 Other transcription factors Search SABiosciences Chromatin IP Primers for VWF Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat VWF
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 12p13.3 Ensembl cytogenetic band: 12p13.31 HGNC cytogenetic band: 12p13.3 VWF Gene in genomic location: bands according to Ensembl, locations according to
Entrez Gene Ensembl GeneLoc information about chromosome 12 GeneLoc Exon Structure
GeneLoc location for GC12M006058: view genomic region
(about GC identifiers )
Start: 6,058,040 bp from pter End:
6,233,936 bp from pter
Size: 175,897 bases Orientation:
minus strand
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Proteinsfor VWF gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
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
Uscn ,
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: VWF_HUMAN, P04275 See
protein sequence )Recommended Name: Size : 2813 amino acids; 309265 DaSubunit : Multimeric. Interacts with F8Subcellular location : Secreted. Secreted, extracellular space, extracellular matrix. Note=Localized to storage granulesSequence caution : Sequence=AAB59512.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknownorigin in the N-terminal part;
6/22 PDB 3D structures from (see all 22 ):1AO3 (3D) 1ATZ (3D) 1AUQ (3D) 1FE8 (3D) 1FNS (3D) 1IJB (3D) Secondary accessions : Q99806Explore the universe of human proteins at neXtProt for VWF: NX_P04275 Post-translational modifications:
All cysteine residues are involved in intrachain or interchain disulfide bonds1 N- and O-glycosylated1 View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_P04275 VWF Protein expression data from MOPED and PaxDb : About this image REFSEQ proteins: NP_000543.2 ENSEMBL proteins: ENSP00000261405 ENSP00000461331 ENSP00000459134 ENSP00000461318 Reactome Protein details: P04275 Human Recombinant Protein Products: Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8 ): About this table
About GeneDecksing VWF Antibody Products: Assay Products for VWF:
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Protein
Domains /for VWF gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section About GeneDecksing 5/7 InterPro domains/families (see all 7 ):
Graphical View of Domain Structure for InterPro Entry P04275 ProtoNet protein and cluster: P04275
5/6 Blocks protein families (see all 6 ): IPB001007 IPB001839 IPB001846 IPB002035 IPB002919 UniProtKB/Swiss-Prot: VWF_HUMAN, P04275 Domain : The von Willebrand antigen 2 is required for multimerization of vWF and for its targeting to storage granulesSimilarity : Contains 1 CTCK (C-terminal cystine knot-like) domainSimilarity : Contains 4 TIL (trypsin inhibitory-like) domainsSimilarity : Contains 3 VWFA domainsSimilarity : Contains 3 VWFC domainsSimilarity : Contains 4 VWFD domains
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Functionfor VWF gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: VWF_HUMAN, P04275 Function : Important in the maintenance of hemostasis, it promotes adhesion of platelets to the sites of vascular injuryby forming a molecular bridge between sub-endothelial collagen matrix and platelet-surface receptor complex GPIb-IX-V. Also acts as a chaperone for coagulation factor VIII, delivering it to the site of injury, stabilizing its heterodimeric structure and protecting it from premature clearance from plasma
Genatlas biochemistry entry for VWF coagulation factor VIII (von Willebrand factor),expressed in endothelial megakaryocytes,stored in platelets alpha-granules and within the Weibel-Palade bodies of epitheliall cells and released into the plasma forming disulfide-linked multimeric structure,assembled from dimers Clone Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat see all 2 )human mouse rat OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: VWF (NM_000552 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for VWF Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat VWF
In Situ AssayAdvanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VWF
Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9 ): About this table
About GeneDecksing 4 GenomeRNAi human phenotypes for VWF :Animal Models: Vwf tm1Wgr for VWF8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Vwf) :About GeneDecksing
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Pathways & Interactionsfor VWF gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways - 5/12 super-pathways (see all 12 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Formation of Fibrin Clot (Clotting Cascade) 2 GP1b signaling involves c-Src 3 Platelet activation, signaling and aggregation 4 Platelet degranulation 5 Integrin alphaIIb beta3 signaling
Pathway sources See GeneCards unified pathways Show all pathways 1 1 3 5/15 (see all 15 )1 VWF 3 (Kegg details for VWF) :About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for VWF STRING Interaction
Network Preview (showing 5 interactants - click image to see 23)5/37 Interacting proteins for VWF (P04275 1 , 2 , 3 ENSP00000261405 4 via UniProtKB, MINT, STRING , and/or I2D (see all 37 )Interactant Interaction Details GeneCard External ID(s) ZNF512B Q96KM6 2 , 3 MINT-60830 I2D:
score=2 GP1BA P07359 1 , 2 , 3 ENSP00000329380 4 EBI-981819,EBI-297082 MINT-17868 MINT-24838 I2D:
score=3 STRING: ENSP00000329380 ADAMTS13 Q76LX8 1 , 3 ENSP00000360997 4 EBI-981819,EBI-981764 I2D:
score=3 STRING: ENSP00000360997 CALR P27797 3 ENSP00000320866 4 I2D:
score=3 STRING: ENSP00000320866 COL1A1 P02452 3 ENSP00000225964 4 I2D:
score=3 STRING: ENSP00000225964
About this table Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12 ): About this table
About GeneDecksing
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Drugs & Compoundsfor VWF gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section About GeneDecksing Browse Tocris compounds for VWF 1 DrugBank Compound for VWF About this table 10/135 Novoseek chemical compound relationships for VWF gene (see all 135 ) About this table
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
ristocetin
97.1
956
7887899 (6), 19694940 (5), 17977030 (5), 14757772 (4) (see all 99 )
desmopressin
91.1
630
11992235 (10), 7690994 (6), 17164493 (6), 2108732 (6) (see all 99 )
fibrinogen
87.2
964
17650077 (9), 17622488 (7), 15745313 (7), 9416937 (6) (see all 99 )
crotalin
72.1
3
9473223 (2)
calin
66
5
9490916 (1), 9164855 (1), 7833474 (1), 10494781 (1)
aurintricarboxylic acid
65.6
39
1287886 (4), 18957047 (2), 7749846 (1), 9459348 (1) (see all 16 )
adp
64.9
103
2154674 (3), 2401846 (3), 8051492 (3), 2346725 (2) (see all 56 )
kogenate
63.9
9
7639276 (2), 18078401 (2), 7483501 (1), 11122270 (1) (see all 6 )
koate-hp
63.7
2
11563592 (1), 8191394 (1)
rfviii
61.2
15
10456452 (2), 8199023 (1), 8652394 (1), 18983499 (1) (see all 7 )
VWF
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Transcriptsfor VWF gene (Secondary structures according to
fRNAdb ,Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC , GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,EMD Millipore ,
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for VWF gene: NM_000552.3 Unigene Cluster for VWF:
Von Willebrand factor Hs.440848 [show with all ESTs ] Unigene Representative Sequence: NM_000552 8 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000261405 (uc001qnn.1 uc010set.1 ) ENST00000538635 ENST00000539641 ENST00000321023 ENST00000538563 ENST00000545906 ENST00000540192 ENST00000572068 (uc001qno.1 )Clone OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat see all 2 )human mouse rat OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: VWF (NM_000552 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for VWF Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat VWF
Additional cDNA sequence: AF086470.1 AK128487.1 AK292122.1 AK297600.1 BC022258.1 BC069030.1 K03028.1 M10321.1 M17588.1 U81237.1 X02672.1 X04146.1 X04385.1
21 DOTS entries : DT.91762387 DT.95170468
DT.121129090 DT.121129141 DT.100788530 DT.121129143 DT.100788527 DT.121129166 DT.97790477 DT.97846422 DT.121129157 DT.40121611 DT.95170466 DT.99966582 DT.429976 DT.91762385 DT.95292632 DT.75146000 DT.91762382 DT.95170467 DT.121129186 24/349 AceView cDNA sequences (see all 349 ):
BX457215 AA683280 BQ029045 BM992949 CA434711 BX506171 BU077753 BC022258 BM931624 AU140697 BU732004 CB265720 AA304286 BQ941759 CB267322 BQ898017 BQ004477 BQ933496 AW516991 BM955958 BQ722193 CA393649 AU141516 AA304187 GeneLoc Exon Structure 5/6 Alternative Splicing Database (ASD) splice patterns (SP) for VWF (see all 6 ) About this scheme ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ SP1 : - - - SP2 : SP3 : SP4 : SP5 :
ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38a · 38b ^ 39a · 39b ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47a · SP1 : - - SP2 : SP3 : SP4 : SP5 :
ExUns: 47b ^ 48 ^ 49a · 49b ^ 50a · 50b ^ 51 ^ 52 ^ 53 SP1 : - - SP2 : SP3 : - SP4 : SP5 :
ECgene alternative splicing isoforms for VWF
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Expression for VWF gene
(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™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section VWF expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: TTCTGCTCTT
About this image VWF expression in embryonic tissues and stem cells About this table See VWF Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for VWF SOURCE GeneReport for Unigene cluster: Hs.440848 UniProtKB/Swiss-Prot: VWF_HUMAN, P04275 Tissue specificity : PlasmaSABiosciences Expression via Pathway-Focused PCR Arrays including VWF : Primer OriGene genome-wide validated SYBR primer pairs in human mouse rat Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human mouse rat QIAGEN QuantiTect SYBR Green Assays in human mouse rat QIAGEN QuantiFast Probe-based Assays in human mouse rat In Situ Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VWF
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Orthologsfor VWF gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section Orthologs for VWF gene from 3/15 species (see all 15 ) About this table
ENSEMBL Gene Tree for VWF (if available)TreeFam Gene Tree for VWF (if available)
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Paralogsfor VWF gene (Paralogs according to
1 HomoloGene ,2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for VWF gene MUC5AC 2 TECTA 2 OTOG 2 MUC2 2 OTOGL 2 MUC6 2 MUC5B 2 MUC19 2 FCGBP 2 BMPER 2 2 SIMAP similar genes for VWF using alignment to 5 protein entries: VWF_HUMAN (see all proteins ):COL21A1 MG1 About GeneDecksing 1 Pseudogenes.org Pseudogene for VWF PGOHUM00000246202
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Genomic Variantsfor VWF gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , 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) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical Chr 12 pos Sequence # AA Type More # Allele Pop Total More
HapMap Linkage Disequilibrium report for VWF (6058040 - 6233936 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for VWF 1 CNV 71446 Human Gene Mutation Database (HGMD) : VWF Locus Specific Mutation Databases (LSDB): VWF SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human mouse rat
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Disorders
/ Diseasesfor VWF gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section About GeneDecksing OMIM gene information: 613160 OMIM disorders : 613554 193400 277480 UniProtKB/Swiss-Prot: VWF_HUMAN, P04275 Defects in VWF are the cause of von Willebrand disease type 1 (VWD1) [MIM:193400]. A common hemorrhagic disorder due to defects in von Willebrand factor protein and resulting in impaired platelet aggregation. Von Willebrand disease type 1 is characterized by partial quantitative deficiency of circulating von Willebrand factor, that is otherwise structurally and functionally normal. Clinical manifestations are mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma Defects in VWF are the cause of von Willebrand disease type 2 (VWD2) [MIM:613554]. A hemorrhagic disorder due to defects in von Willebrand factor protein and resulting in impaired platelet aggregation. Von Willebrand disease type 2 is characterized by qualitative deficiency and functional anomalies of von Willebrand factor. It is divided in different subtypes including 2A, 2B, 2M and 2N (Normandy variant). The mutant VWF protein in types 2A, 2B and 2M are defective in their platelet-dependent function, whereas the mutant protein in type 2N is defective in its ability to bind factor VIII. Clinical manifestations are mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma Defects in VWF are the cause of von Willebrand disease type 3 (VWD3) [MIM:277480]. A severe hemorrhagic disorder due to a total or near total absence of von Willebrand factor in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII. Bleeding usually starts in infancy and can include epistaxis, recurrent mucocutaneous bleeding, excessive bleeding after minor trauma, and hemarthroses 258/259 (see all 259 ) (see first 20 ): About MalaCards von willebrand's disease von willibrand disease, type 3 qualitative platelet defect african tick-bite fever bernard-soulier syndrome factor xii deficiency monoclonal gammopathy of undetermined significance hemolytic-uremic syndrome glycogen storage disease type ia bombay phenotype glanzmann's thrombasthenia type 3 von willebrand disease type 1 von willebrand disease intermittent claudication paroxysmal nocturnal hemoglobinuria acquired von willebrand syndrome retinal vein occlusion hermansky-pudlak syndrome central retinal vein occlusion factor xi deficiency disseminated intravascular coagulation arterial occlusive disease hypersensitivity reaction type ii disease factor viii deficiency thrombotic thrombocytopenic purpura glycogen storage disease deep vein thrombosis cor pulmonale nephrogenic diabetes insipidus afibrinogenemia peripheral arterial occlusive disease critical limb ischemia polymyalgia rheumatica aortic valve stenosis eisenmenger syndrome classic kaposi sarcoma hemarthrosis angiodysplasia pre-eclampsia myocardial infarction abdominal aortic aneurysm atrial fibrillation hereditary hemorrhagic telangiectasia acute myocardial infarction peripheral vascular disease familial combined hyperlipidemia thrombasthenia diabetes insipidus hypofibrinogenemia severe acute respiratory syndrome cervical intraepithelial neoplasia type 2 diabetes mellitus aortic aneurysm type 1 diabetes mellitus lichen sclerosus thrombosis coronary heart disease autoimmune hemolytic anemia temporal arteritis hemolytic anemia al amyloidosis congestive heart failure placental insufficiency coronary thrombosis congenital afibrinogenemia sickle cell disease wegener's granulomatosis polycythemia vera connective tissue disease hemophilia megakaryoblastic leukemia hellp syndrome myeloproliferative disorder chronic obstructive pulmonary disease congenital muscular dystrophy lupus erythematosus cerebrovascular accident muscular dystrophy sleep apnea vascular disease diabetes mellitus antiphospholipid syndrome collagen disease acute megakaryoblastic leukemia essential thrombocythemia pulmonary hypertension polycystic ovary syndrome insulin resistance ankylosing spondylitis kaposi's sarcoma sickle cell anemia venous thrombosis essential hypertension congenital disorder of glycosylation purpura diabetic ketoacidosis hemoglobinuria ischemic heart disease arterial calcification thrombophilia thrombocytosis systemic lupus erythematosus primary pulmonary hypertension diabetic angiopathy hemophilia b acute promyelocytic leukemia angiosarcoma infective endocarditis cerebral infarction portal hypertension psychotic disorder megakaryocytic leukemia vascular malformations cytomegalovirus infection inflammatory bowel disease hypertension hyperhomocysteinemia hypertrophic cardiomyopathy hemorrhagic disease hyperparathyroidism hydronephrosis brain injury uremia acute lymphoblastic leukemia macular degeneration fabry disease gestational diabetes primary hyperparathyroidism dilated cardiomyopathy polycythemia hemangioendothelioma vascular dementia lymphoblastic leukemia acute myeloid leukemia lupus nephritis vulvar cancer apnea endocarditis amyloidosis hemoglobinopathy maculopathy plague thromboembolism bleeding disorder anemia myeloid leukemia ulcerative colitis hepatopulmonary syndrome hyperlipidemia spondylitis diabetic retinopathy cushing's syndrome hypothyroidism thrombocytopenia cryoglobulinemia metabolic disorders vasculitis malignant glioma nephritis diabetic neuropathy leukemia kawasaki disease wilms tumor pterygium cystic fibrosis behcet's disease fainting glomerulopathy pulmonary disease eclampsia cerebrovascular disease malignant hypertension nephroblastoma nephrotic syndrome cardiomyopathy alcoholic hepatitis osteonecrosis glaucoma bipolar disorder nephropathy graves' disease gastric ulcer pulmonary fibrosis multiple myeloma bronchitis scoliosis polymyositis cerebritis schistosomiasis rheumatoid arthritis multiple sclerosis obesity, association with dermatomyositis dementia hemangioma sarcoma hyperthyroidism fibrosis thalassemia neuropathy hypercholesterolemia proteinuria kidney disease acute pancreatitis retinitis scleroderma diarrhea migraine copd ischemia acute leukemia liver disease sinusitis lung adenocarcinoma atherosclerosis myeloma leiomyoma glomerulonephritis hyperglycemia obesity homocysteine alcoholism hepatocellular carcinoma twinning choroiditis cervicitis pancreatitis colon cancer arthritis periodontitis ovarian cancer gastric cancer lung carcinoma blindness peritonitis pancreatic cancer breast carcinoma colorectal cancer thyroiditis osteosarcoma lung cancer adenocarcinoma carcinoma prostate cancer breast cancer glioblastoma ataxia hepatitis cholesterol hypoxia prostatitis immunodeficiency melanoma malaria venous thromboembolism age-related maculopathy benign monoclonal gammopathy septic shock 14 diseases from the University of Copenhagen DISEASES database for VWF :Von Willebrand's disease Thrombophilia Vascular disease Bernard-Soulier syndrome Thrombocytopenia Heart disease Glanzmann's thrombasthenia Diabetes mellitus Brain disease Anemia Cancer Kidney failure Connective tissue disease Hypersensitivity reaction type II disease 10/96 Novoseek disease relationships for VWF gene (see all 96 ) About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
von willebrand disease
97.8
680
8456322 (3), 8236134 (3), 9684782 (3), 1409710 (3) (see all 99 )
purpura thrombotic thrombocytopenic
87.5
100
8438900 (4), 19190805 (2), 9535389 (1), 10227776 (1) (see all 77 )
prolonged bleeding time
82.7
61
7750191 (2), 9881332 (1), 10583513 (1), 11601234 (1) (see all 38 )
von willebrand disease, platelet-type
82.2
11
19951970 (1), 1911886 (1), 7660135 (1), 12637314 (1) (see all 8 )
coagulopathy
81
122
8500791 (2), 18333911 (2), 9873810 (2), 8328650 (1) (see all 99 )
hemophilia a
78.4
41
8500791 (2), 8490173 (2), 8634427 (2), 19506355 (2) (see all 25 )
bleeding tendency
78
41
1284714 (2), 18055987 (2), 19506363 (1), 10595636 (1) (see all 27 )
bernard-soulier syndrome
76.3
12
8000916 (1), 8770359 (1), 20462086 (1), 7900092 (1) (see all 10 )
thrombosis
74.2
185
7823669 (4), 8490173 (4), 11380453 (2), 15870546 (2) (see all 99 )
bleeding
72.3
511
20008188 (5), 8562836 (4), 15166918 (4), 9766795 (3) (see all 99 )
Genatlas disease: VWF Willebrand disease,types I,II A and II B and recessive form GeneTests: VWF von Willebrand Disease Genetic Association Database (GAD): VWF Human Genome Epidemiology (HuGE) Navigator: VWF (99 documents) Export disorders for VWF gene to outside databases
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Publicationsfor VWF gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for VWF gene, integrated from 9 sources (see all 2673 ):(articles sorted by number of sources associating them with VWF) Utopia : connect your pdf to the dynamic
A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion. (PubMed id 10887119) 1 , 2 , 9(2000) von Willebrand factor storage and multimerization: 2 independent intracellular processes. (PubMed id 10961880) 1 , 2 , 9(2000) The ABO blood group genotype and factor VIII levels as independent risk factors for venous thromboembolism. (PubMed id 15735796) 1 , 4, 9(2005) The Sma I polymorphism in the von Willebrand factor gene associated with acute ischemic stroke. (PubMed id 11755948) 1 , 4, 9(2001) von Willebrand disease type B: a missense mutation selectively abolishes ristocetin-induced von Willebrand factor binding to platelet glycoprotein Ib. (PubMed id 1409710) 1 , 2 , 9(1992) Genetic variability of von Willebrand factor and risk of coronary heart disease: the Rotterdam Study. (PubMed id 14717782) 1 , 4, 9(2004) Defective dimerization of von Willebrand factor subunits due to a Cys-> Arg mutation in type IID von Willebrand disease. (PubMed id 8622978) 1 , 2 , 9(1996) Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (vWF) responsible for type 2 von Willebrand disease with decreased platelet-dependent function of vWF. (PubMed id 7620154) 1 , 2 , 9(1995) Characterization of the von Willebrand factor gene (VWF) in von Willebrand disease type III patients from 24 families of Swedish and Finnish origin. (PubMed id 8088787) 1 , 2 , 9(1994) Impact of the Thr789Ala variant of the von Willebrand factor levels, on ristocetin co-factor and collagen binding capacity and its association with coronary heart disease in patients with diabetes mellitus type 2. (PubMed id 16320153) 1 , 4, 9(2005)
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miRBase ,
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and/or
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Specialized Databases showing VWF gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description PharmGKB entry for VWF Pharmacogenomics, SNPs, Pathways vWF http://www.vwf.group.shef.ac.uk/ GeneReviews http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/VWF Wikipedia http://en.wikipedia.org/wiki/Von_Willebrand_factor
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About This Section Patent Information for VWF gene: VWF GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor VWF gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
Browse OriGene Antibodies OriGene shRNA RFP for VWF OriGene 29mer shRNA kits in GFP-retroviral vector in human mouse rat OriGene genome-wide validated SYBR primer pairs in human mouse rat Browse OriGene Protein Over-expression Lysates Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for VWF OriGene 3'-UTR Clone for VWF OriGene untagged cDNA clones in CMV expression vector in human mouse rat OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for VWF OriGene Custom Protein Services for VWF OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat VWF QIAGEN SeqTarget long-range PCR primers in human mouse rat QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat VWF QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human mouse rat QIAGEN QuantiFast Probe-based Assays in human mouse rat QIAGEN QuantiTect SYBR Green Assays in human mouse rat
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and Proteopedia 
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Kegg Pathways 
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Expression by the Database of Embryonic development, Stem cell research, and
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Selective marker
In-situ hybridization
