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VWF Gene

protein-coding   GIFtS: 70
GCID: GC12M006058

Von Willebrand Factor


(Previous symbol: F8VWF)
  See VWF-related diseases
at  

(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
Von Willebrand Factor1 2
F8VWF1 2 3
VWD2
Coagulation Factor VIII VWF2
vWF3
F85

External Ids:    HGNC: 127261   Entrez Gene: 74502   Ensembl: ENSG000001107997   OMIM: 6131605   UniProtKB: P042753   

Export aliases for VWF gene to outside databases

Previous GC identifers: GC12M005930 GC12M005928 GC12M005917


(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 VWF Gene:
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)

GeneCards Summary for VWF Gene:
VWF (von Willebrand factor) is a protein-coding gene. Diseases associated with VWF include von willebrand's disease, and type 1 von willebrand disease. GO annotations related to this gene include protein homodimerization activity and protein N-terminus binding. An important paralog of this gene is MUC5AC.

UniProtKB/Swiss-Prot: VWF_HUMAN, P04275
Function: Important in the maintenance of hemostasis, it promotes adhesion of platelets to the sites of vascular
injury by 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) Gene


(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 at NCBI GenBank:
NC_000012.11  NC_018923.2  NT_009759.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the VWF gene promoter:
         AML1a   Chx10   MyoD   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidVWF promoter sequence
   Search Chromatin IP Primers for VWF

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 (and/or Entrez Gene and/or Ensembl if different)
VWF gene location

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

(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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: VWF_HUMAN, P04275 (See protein sequence)
Recommended Name: von Willebrand factor precursor  
Size: 2813 amino acids; 309265 Da
Subunit: Multimeric. Interacts with F8
Sequence caution: Sequence=AAB59512.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of
unknown origin in the N-terminal part;
Selected PDB 3D structures from and Proteopedia for VWF (see all 26):
1AO3 (3D)        1ATZ (3D)        1AUQ (3D)        1FE8 (3D)        1FNS (3D)        1IJB (3D)    
Secondary accessions: Q99806

Explore the universe of human proteins at neXtProt for VWF: NX_P04275

Explore proteomics data for VWF at MOPED

Post-translational modifications: 

  • All cysteine residues are involved in intrachain or interchain disulfide bonds1
  • N- and O-glycosylated1
  • Ubiquitination2 at Lys1720
  • Glycosylation2 at Asn99, Asn156, Asn211, Asn666, Asn857, Asn1147, Asn1231, Thr1248, Thr1255, Thr1256,
                                 Ser1263, Thr1468, Thr1477, Ser1486, Thr1487, Asn1515, Asn1574, Thr1679, Asn2223, Asn2290 (see all 26)
  • Modification sites at PhosphoSitePlus

  • See VWF Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000543.2  
    ENSEMBL proteins: 
     ENSP00000261405   ENSP00000461331   ENSP00000459134   ENSP00000461318  
    Reactome Protein details: P04275

    VWF Human Recombinant Protein Products:

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    Novus Biologicals VWF Protein
    Novus Biologicals VWF Lysates
    Browse Sino Biological Recombinant Proteins
    Sino Biological Cell Lysate for VWF
    ProSpec Recombinant Protein for VWF
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for VWF 

     
    antibodies-online proteins for VWF (18 products) 

     
    Search antibodies-online for peptides for VWF

    VWF Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of VWF
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    Abcam antibodies for VWF
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for VWF
    LSBio Antibodies in human, mouse, rat for VWF
    antibodies-online antibodies for VWF (195 products) 

    VWF Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for VWF 
    antibodies-online kits for VWF (48 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ENDOLIG: Endogenous ligands

    Selected InterPro protein domains (see all 7):
     IPR014853 Unchr_dom_Cys-rich
     IPR006207 Cys_knot_C
     IPR012011 VWF
     IPR002919 TIL_dom
     IPR001007 VWF_C

    Graphical View of Domain Structure for InterPro Entry P04275

    ProtoNet protein and cluster: P04275

    Selected Blocks protein domains (see all 6):
    IPB001007 von Willebrand factor
    IPB001839 Transforming growth factor beta (TGFb)
    IPB001846 Von Willebrand factor
    IPB002035 Von Willebrand factor type A domain signature
    IPB002919 Trypsin inhibitor-like


    UniProtKB/Swiss-Prot: VWF_HUMAN, P04275
    Domain: The von Willebrand antigen 2 is required for multimerization of vWF and for its targeting to storage
    granules
    Similarity: Contains 1 CTCK (C-terminal cystine knot-like) domain
    Similarity: Contains 4 TIL (trypsin inhibitory-like) domains
    Similarity: Contains 3 VWFA domains
    Similarity: Contains 3 VWFC domains
    Similarity: Contains 4 VWFD domains


    Find genes that share domains with VWF           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VWF_HUMAN, P04275
    Function: Important in the maintenance of hemostasis, it promotes adhesion of platelets to the sites of vascular
    injury by 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

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001948glycoprotein binding IDA16409464
    GO:0002020protease binding IPI12775718
    GO:0005178integrin binding IPI9079671
    GO:0005515protein binding IPI11943773
    GO:0005518collagen binding IDA2056120
         
    Find genes that share ontologies with VWF           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for VWF:
     Cell cycle / mitosis defect  Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e 

         9 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Vwf):
     cardiovascular system  cellular  digestive/alimentary  hematopoietic system  homeostasis/metabolism 
     immune system  mortality/aging  nervous system  no phenotypic analysis 

    Find genes that share phenotypes with VWF           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Vwftm1Wgr for VWF

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for VWF
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for VWF

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for VWF
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for VWF

    miRNA
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    hsa-miR-4265 hsa-miR-4296
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for VWF
    Predesigned siRNA for gene silencing in human, mouse, rat VWF

    Gene Editing
    Products:
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    Clone
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    OriGene ORF clones in mouse, rat for VWF
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    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

    Cell Line
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    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-12338) for VWF 


    (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
    VWF_HUMAN, P04275: Secreted. Secreted, extracellular space, extracellular matrix. Note=Localized to storage
    granules
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    extracellular5
    cytoskeleton3
    golgi apparatus2
    nucleus2
    plasma membrane2
    lysosome1
    mitochondrion1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix IEA--
    GO:0005783endoplasmic reticulum IDA6754744
    GO:0009897external side of plasma membrane IEA--
    GO:0031012extracellular matrix IDA6754744

    Find genes that share ontologies with VWF           About GenesLikeMe


    (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 VWF About   (see all 12)  
    See pathways by source

    SuperPathContained pathways About
    1Formation of Fibrin Clot (Clotting Cascade)
    Formation of Fibrin Clot (Clotting Cascade)0.51
    Blood Clotting Cascade0.42
    Blood Coagulation Signaling Pathways0.51
    Intrinsic Pathway0.00
    2Focal adhesion
    Focal adhesion0.65
    ECM-receptor interaction0.31
    Focal Adhesion0.65
    3Complement and coagulation cascades
    Complement and coagulation cascades0.71
    Complement and Coagulation Cascades0.71
    4Integrin alphaIIb beta3 signaling
    Integrin alphaIIb beta3 signaling0.73
    GRB2-SOS provides linkage to MAPK signaling for Intergrins0.00
    Platelet Aggregation (Plug Formation)0.73
    p130Cas linkage to MAPK signaling for integrins0.00
    5Response to elevated platelet cytosolic Ca2+
    Response to elevated platelet cytosolic Ca2+0.94
    Platelet degranulation0.94


    Find genes that share SuperPaths with VWF           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for VWF
        Blood Coagulation Signaling Pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for VWF
        Blood Coagulation Cascade
    Intrinsic Prothrombin Activation Pathway

    3 BioSystems Pathways for VWF
        Focal Adhesion
    Blood Clotting Cascade
    Complement and Coagulation Cascades


    Selected Reactome Pathways for VWF (see all 8)
        Platelet Adhesion to exposed collagen
    Integrin cell surface interactions
    Intrinsic Pathway
    GP1b-IX-V activation signalling
    p130Cas linkage to MAPK signaling for integrins

    1 PharmGKB Pathway for VWF
        Platelet Aggregation Inhibitor Pathway, Pharmacodynamics

    4 Kegg Pathways  (Kegg details for VWF):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    Complement and coagulation cascades

        Pathway & Disease-focused RT2 Profiler PCR Arrays including VWF: 
              Cell Surface Markers in human mouse rat
              Endothelial Cell Biology in human mouse rat
              Atherosclerosis in human mouse rat
              Mesenchymal Stem Cell in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for VWF

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for VWF (P042751, 2, 3 ENSP000002614054) via UniProtKB, MINT, STRING, and/or I2D (see all 47)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ZNF512BQ96KM62, 3MINT-60830 I2D: score=2 
    VWFP042751, 2EBI-981819,EBI-981819 MINT-8289100
    GP1BAP073591, 2, 3, ENSP000003293804EBI-981819,EBI-297082 MINT-17868 MINT-24838 I2D: score=3 STRING: ENSP00000329380
    ADAMTS13Q76LX81, 3, ENSP000003609974EBI-981819,EBI-981764 I2D: score=3 STRING: ENSP00000360997
    CALRP277973, ENSP000003208664I2D: score=3 STRING: ENSP00000320866
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001889liver development IEA--
    GO:0001890placenta development IEA--
    GO:0002576platelet degranulation TAS--
    GO:0007155cell adhesion IDA10764791
    GO:0007596blood coagulation TAS--

    Find genes that share ontologies with VWF           About GenesLikeMe



    (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 VWF

    1 DrugBank Compound for VWF    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Antihemophilic FactorAHF (see all 3)--targetbinder2942172 2128855 14750934 11858481 10938981

    Selected Novoseek inferred 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)



    Find genes that share compounds with VWF           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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)

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    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: VWF (NM_000552)
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    Flow Cytometry
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    Additional mRNA 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 

    349 AceView cDNA sequences (see top 24):

    CA426966 BM978014 AL549326 AW088268 BM931624 CB266691 BC069030 AA683280 
    CB266865 BM992949 BQ882131 BQ722193 M17588 BQ004477 X04385 BU732004 
    AU140314 AA457534 AA323834 BQ029045 BM699079 AU158381 CB267322 BX457215 
    CA427853 AL119583 AU141516 BC022258 CA434711 BQ709973 BM999024 AW006466 
    T27768 BQ003750 BM955958 AL133966 AA304187 BQ024352 CB265720 BX506171 
    AA304286 BU077753 CD743187 AI193992 AW516991 BQ898017 BQ002446 BP339501 
    BQ941759 X02672 AL047255 AI131038 BQ933496 AU140697 AW015780 CA393649 
    CD517637 F05119 BI767618 AU140411 BM708156 BQ716272 AW811712 AU158360 
    BM991142 AA010711 AU140542 BF922266 AA368591 AA303603 AU140989 BF922202 
    AI868124 AL138030 AA317618 AA304547 AL039749 BM685612 BQ716176 AU141370 
    BQ712309 AU140767 CD171982 AJ346789 AU140585 BM008126 AF086470 AU137787 
    CD608936 AU140205 AU140944 CA449291 BP368103 BF437136 AA977793 U81237 
    R09280 AA417370 BQ018831 AU140168 CA406142 AU140198 AA359696 BM993375 
    F01368 AA573227 R54658 CB270717 AA827276 CD608960 AI949505 BV204920 
    AU140984 M10321 CD608949 BQ709738 BX327180 BQ028745 CA435359 AA911740 
    AI354607 BM708543 CB270836 AJ571848 AL045525 CK005069 AA977265 AU140239 
    K03028 AA147908 AJ346199 AA775051 BI490763 NM_000552 AJ346179 BU145673 
    BF446255 AL600546 CA391667 BP340610 AU142074 AA301964 BU682587 W73631 
    AU140638 AI972463 R17627 AU140938 CA396861 AA994808 BF989079 CA395834 
    BV174274 AL038892 AL549503 AA416823 CB268793 AL549477 AI352482 BQ574942 
    AI144543 AA550826 AL573601 AA634187 AA302021 X04146 CA407485 BQ711187 
    AI299576 R54854 BF773382 AU158951 BG537426 CD690980 CD608962 BQ712338 
    AA359162 BQ926687 CD608930 CD608954 AA147852 AA687493 AI969871 AW181931 
    AA604487 AI242112 BP378722 CD608926 AA188310 CD608945 AI580356 AI285524 
    BF340738 AA187549 AA968442 AA301734 AA193211 BP345208 AA303586 CD608941 
    W73679 AA487787 AA302169 BF922387 CD608947 H64571 AI868782 BF222531 
    AA359736 CD608944 CD608952 CD608938 BM689155 AW516239 AW080525 CD608919 
    BX327181 AA186675 BF992729 AA775204 AA193212 AW418853 CD608956 CD608924 
    AA304000 AA622720 AI830435 AW381237 AL039405 AA457630 AI623840 CD359495 
    AA527438 AI024247 AI679648 AW963013 AA984782 AL572255 BF922208 AU158577 
    CD608933 BF922190 CD701923 AW130670 AA665618 BF922256 BF922268 CB051605 
    W05270 AA132052 AI937831 BF922343 AW131353 AW196072 AW192754 AA911815 
    BF922318 AI160564 AA303375 AI913446 AA181088 AI373146 BF901177 AW380784 
    BF922201 CA393079 CD608931 AV696888 BF879592 D59022 AA187845 N75461 
    BF922338 AA303286 AU158548 AI970659 AA181933 C03205 AA485883 CD608918 
    BE710579 AI597904 CD608922 BM932065 AU158480 AU158614 AA082107 BF851335 
    AA702591 AA775344 AA148277 CD608939 BF814649 CB268149 AW571804 BM716796 
    AI499955 AA335538 CD608958 R43348 AI364395 W81442 AI866222 BF740323 
    AA983590 AA148276 BF850124 AI961168 AL547229 CD608927 H27229 BP343964 
    BU147004 BQ361135 AA130516 AA335543 BE932375 BF759431 BF922181 R09176 
    AI581435 BX329057 BG677984 BP345654 AA721546 R73939 AI694842 AA327192 
    AI003411 AW955872 AI907285 AA996285 T90707 BQ329321 BQ301486 BI051123 
    BQ361433 BF740838 CD608907 T61561 BQ888783 CD608911 CD608909 AA992712 
    AW955871 CD608905 CD608915 BF922325 CD608913 

    GeneLoc Exon Structure

    Selected 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

    (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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    VWF expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCTGCTCTT
    VWF Expression
    About this image


    VWF expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 24) fully expand
     
     Endothelium (Cardiovascular System)    fully expand to see all 39 entries
             Pericytes Microvessels
             Human umbilical vein endothelial cells (HUVEC)
             UEA-1 isolated cells
             Human Aortic Endothelial Cells (HAEC)   
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 6 entries
             Umbilical cord blood-derived endothelial progenitor cells
             Human Umbilical Artery Endothelial Cells (HUAEC)   
     
     Blood (Hematopoietic System)    fully expand to see all 4 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             Angiogenic cell precursor
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
             Brain microvascular endothelial cells
             Human Brain Microvascular Endothelial Cells (HBMEC)   
     
     Heart (Cardiovascular System)    fully expand to see all 5 entries
             Endocardial Tube Cells Endocardium
             Heart Tube
             Cardiac progenitor cells
             Human Pulmonary Artery Endothelial Cells (HPAEC)   
    VWF Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    VWF Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.440848

    UniProtKB/Swiss-Prot: VWF_HUMAN, P04275
    Tissue specificity: Plasma

        Pathway & Disease-focused RT2 Profiler PCR Arrays including VWF: 
              Cell Surface Markers in human mouse rat
              Endothelial Cell Biology in human mouse rat
              Atherosclerosis in human mouse rat
              Mesenchymal Stem Cell in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for VWF
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat VWF
    QuantiTect SYBR Green Assays in human, mouse, rat VWF
    QuantiFast Probe-based Assays in human, mouse, rat VWF
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VWF

    (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 VWF gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Vwf1 , 5 Von Willebrand factor homolog1, 5 83.68(n)1
    83.4(a)1
      6 (59.32 cM)5
    223711  NM_011708.41  NP_035838.31 
     1255467745 
    chicken
    (Gallus gallus)
    Aves VWF1 von Willebrand factor 61.71(n)
    56.63(a)
      419031  XM_417223.4  XP_417223.3 
    lizard
    (Anolis carolinensis)
    Reptilia VWF6
    Uncharacterized protein
    55(a)
    1 ↔ 1
    5(81821509-82024856)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia vwf1 von Willebrand factor 60.41(n)
    55.42(a)
      100492314  NM_001256288.1  NP_001243217.1 
    zebrafish
    (Danio rerio)
    Actinopterygii vwf1 von Willebrand factor 56.17(n)
    47.62(a)
      570643  XM_002665310.3  XP_002665356.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta Hml3 defense response sugar binding 30(a)   70C4   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for VWF gene
    MUC5AC2  ZAN2  TECTA2  MUC22  OTOG2  OTOGL2  MUC62  MUC192  
    FCGBP2  BMPER2  
    3 SIMAP similar genes for VWF using alignment to 5 protein entries:     VWF_HUMAN (see all proteins):
    COL21A1    FCGBP    MG1

    Find genes that share paralogs with VWF           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for VWF
    PGOHUM00000246202


    (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)
    About This Section

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    Selected SNPs for VWF (see all 5204)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs617506151,2,,4
    C,FVon Willebrand disease 3 (VWD3)4 untested16035142(-) TCACTC/TCACAA 2 P S mis12Minor allele frequency- T:0.01NA EU 5875
    rs412767381,2,,4
    C,FVon Willebrand disease 2 (VWD2)4 pathogenic16075456(+) ACTTCC/TGGTCC 2 Q R mis14Minor allele frequency- T:0.00NA EU 5871
    rs617539971,2,,4
    CVon Willebrand disease 3 (VWD3)4 untested16116089(-) ACGCCC/TGGACC 2 R W mis11Minor allele frequency- T:0.00NA 4548
    VAR_0058084
    Von Willebrand disease 2 (VWD2)4--see VAR_0058082 F C mis40--------
    VAR_0057924
    Von Willebrand disease 2 (VWD2)4--see VAR_0057922 H D mis40--------
    VAR_0058114
    Von Willebrand disease 2 (VWD2)4--see VAR_0058112 R G mis40--------
    VAR_0058144
    Von Willebrand disease 2 (VWD2)4--see VAR_0058142 V D mis40--------
    VAR_0057834
    Von Willebrand disease 2 (VWD2)4--see VAR_0057832 N S mis40--------
    VAR_0057944
    Von Willebrand disease 2 (VWD2)4--see VAR_0057942 R W mis40--------
    VAR_0058154
    Von Willebrand disease 2 (VWD2)4--see VAR_0058152 G R mis40--------

    HapMap Linkage Disequilibrium report for VWF (6058040 - 6233936 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for VWF:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2549788CNV Deletion19546169
    nsv509451CNV Insertion20534489
    esv269412CNV Insertion20981092
    dgv1350n71CNV Loss21882294
    nsv832320CNV Loss17160897
    nsv898631CNV Loss21882294
    nsv468988CNV Gain19166990
    nsv470262CNV Gain18288195
    esv26513CNV Gain19812545
    nsv898628CNV Gain21882294

    Human Gene Mutation Database (HGMD): VWF
    Locus Specific Mutation Databases (LSDB): VWF

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing VWF
    DNA2.0 Custom Variant and Variant Library Synthesis for VWF

    (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.)
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    OMIM gene information: 613160   
    OMIM disorders: 613554  193400  277480  
    UniProtKB/Swiss-Prot: VWF_HUMAN, P04275
  • von Willebrand disease 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. Note=The disease is caused by mutations affecting
    the gene represented in this entry
  • von Willebrand disease 2 (VWD2) [MIM:613554]: A hemorrhagic disorder due to defects in von Willebrand
    factor protein and resulting in altered 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. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • von Willebrand disease 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • Selected diseases for VWF (see all 37):    
    About MalaCards
    von willebrand's disease    type 1 von willebrand disease    type 3 von willebrand disease    qualitative platelet defect
    von willebrand disease, types 2a, 2b, 2m, and 2n    type 2m von willebrand disease    acquired von willebrand syndrome    von willibrand disease, type 3
    type 2a von willebrand disease    thrombotic thrombocytopenic purpura    type 2b von willebrand disease    eisenmenger syndrome
    type 2n von willebrand disease    angiodysplasia    mild hemophilia a    autoimmune polyglandular syndrome type 3
    intermittent claudication    fainting    hemarthrosis    coronary thrombosis

    14 diseases from the University of Copenhagen DISEASES database for VWF:
    Von Willebrand's disease     Vascular disease     Thrombophilia     Bernard-Soulier syndrome
    Thrombocytopenia     Heart disease     Glanzmann's thrombasthenia     Diabetes mellitus
    Brain disease     Anemia     Cancer     Connective tissue disease
    Kidney failure     Hypersensitivity reaction type II disease

    Find genes that share disorders with VWF           About GenesLikeMe

    Selected Novoseek inferred 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
    GeneReviews: VWF
    Genetic Association Database (GAD): VWF
    Human Genome Epidemiology (HuGE) Navigator: VWF (99 documents)

    Export disorders for VWF 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)
    About This Section

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    PubMed articles for VWF gene, integrated from 10 sources (see all 2729):
    (articles sorted by number of sources associating them with VWF)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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 Allen S.... Daly M.E. (Blood 2000)
    2. von Willebrand factor storage and multimerization: 2 independent intracellular processes. (PubMed id 10961880)1, 2, 9 Haberichter S.L.... Montgomery R.R. (Blood 2000)
    3. The ABO blood group genotype and factor VIII levels as independent risk factors for venous thromboembolism. (PubMed id 15735796)1, 4, 9 Tirado I....Fontcuberta J. (Thromb. Haemost. 2005)
    4. Measurement of von Willebrand factor-FVIII binding activity in patients with suspected von Willebrand disease type 2N: application of an ELISA-based assay in a reference laboratory. (PubMed id 19298374)1, 4, 9 Zhukov O....Sahud M. (Haemophilia 2009)
    5. The Sma I polymorphism in the von Willebrand factor gene associated with acute ischemic stroke. (PubMed id 11755948)1, 4, 9 Dai K....Ruan C. (Thromb. Res. 2001)
    6. 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 Rabinowitz I.... Sadler J.E. (Proc. Natl. Acad. Sci. U.S.A. 1992)
    7. Distribution of von Willebrand factor levels in young women with and without bleeding symptoms: influence of ABO blood group and promoter haplotypes. (PubMed id 18521502)1, 4, 9 Lethagen S....Friberg B. (Thromb. Haemost. 2008)
    8. The A/T1381 polymorphism in the A1-domain of von Willebrand factor influences the affinity of von Willebrand factor for platelet glycoprotein Ibalpha. (PubMed id 17598011)1, 4, 9 SzA!ntA^ T....Vanhoorelbeke K. (Thromb. Haemost. 2007)
    9. Genetic variability of von Willebrand factor and risk of coronary heart disease: the Rotterdam Study. (PubMed id 14717782)1, 4, 9 van der Meer I.M....GA^mez GarcA-a E.B. (Br. J. Haematol. 2004)
    10. 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 Schneppenheim R.... Ruggeri Z.M. (Proc. Natl. Acad. Sci. U.S.A. 1996)

    (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: 7450 HGNC: 12726 AceView: VWF Ensembl:ENSG00000110799 euGenes: HUgn7450
    ECgene: VWF Kegg: 7450 H-InvDB: VWF

    (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 VWF Pharmacogenomics, SNPs, Pathways
    vWFhttp://www.vwf.group.shef.ac.uk/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=VWF[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Von_Willebrand_factor

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for VWF gene:
    Search GeneIP for patents involving VWF

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for VWF
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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