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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

VWF Gene

protein-coding   GIFtS: 73
GCID: GC12M006058

von Willebrand factor


(Previous symbol: F8VWF)
 Explore 259 diseases affiliated with
VWF via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for VWF    

Aliases
for VWF gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Von Willebrand Factor1 2
F8VWF1 2 3
VWD2
Coagulation Factor VIII VWF2
VWF1
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


Summaries
for 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 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)


Genomic Views
for VWF 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 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

SwitchGear Promoter luciferase reporter plasmid: VWF promoter sequence
   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 (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

Proteins
for VWF gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, 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,
Biochemical Assays by 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: von Willebrand factor precursor  
Size: 2813 amino acids; 309265 Da
Subunit: Multimeric. Interacts with F8
Subcellular location: Secreted. Secreted, extracellular space, extracellular matrix. Note=Localized to storage granules
Sequence caution: Sequence=AAB59512.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown
origin in the N-terminal part;
6/22 PDB 3D structures from and Proteopedia for VWF (see all 22):
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

Post-translational modifications:

  • All cysteine residues are involved in intrachain or interchain disulfide bonds1
  • N- and O-glycosylated1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P04275

    • VWF Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000543.2  
    ENSEMBL proteins: 
     ENSP00000261405   ENSP00000461331   ENSP00000459134   ENSP00000461318  
    Reactome Protein details: P04275
    Human Recombinant Protein Products: 
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    Novus Biologicals VWF Protein
    Novus Biologicals VWF Lysates
    Sino Biological Recombinant Protein for VWF
    ProSpec Recombinant Protein for VWF
    Uscn Proteins for VWF

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    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


    VWF for ontologies           About GeneDecksing



    VWF Antibody Products: 
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    Assay Products for VWF: 
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    Uscn ELISAs and CLIAs for VWF

    Protein Domains /
    Families
    for VWF gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    VWF for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR014853 Unchr_dom_Cys-rich
     IPR012011 VWF
     IPR002919 TIL_dom
     IPR006207 Cys_knot_C
     IPR001007 VWF_C

    Graphical View of Domain Structure for InterPro Entry P04275

    ProtoNet protein and cluster: P04275

    5/6 Blocks protein families (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


    Function
    for VWF gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from 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 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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat VWF
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate VWF:
    hsa-miR-4265 hsa-miR-4296
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for VWF (see all 4)
    OriGene shRNA RFP: VWF
    OriGene siRNA: VWF
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat VWF

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for VWF

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for VWF (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for VWF
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    GenScript: all cDNA clones in your preferred vector: VWF (NM_000552)
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    Cell Line
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    In Situ Assay
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    Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001948glycoprotein binding IDA16409464
    GO:0002020protease binding IPI12775718
    GO:0005178integrin binding IPI9079671
    GO:0005515protein binding IPI16221672
    GO:0005518collagen binding IDA2056120


    VWF for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Vwftm1Wgr for VWF
         8 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Vwf):
     cardiovascular system  cellular  digestive/alimentary  hematopoietic system  homeostasis/metabolism 
     immune system  mortality/aging  nervous system 

    VWF for phenotypes           About GeneDecksing


    Pathways & Interactions
    for 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 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, 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-pathwaycontained gene-specific pathways
    1Formation of Fibrin Clot (Clotting Cascade)
    		Formation of Fibrin Clot (Clotting Cascade)1.00
    		Blood Coagulation Signaling Pathways0.51
    		Intrinsic Pathway0.59
    		Blood Clotting Cascade0.36
    2GP1b signaling involves c-Src
    		GP1b signaling involves c-Src1.00
    		Platelet Adhesion to exposed collagen0.36
    		GP1b-IX-V activation signalling0.60
    3Platelet activation, signaling and aggregation
    		Platelet activation, signaling and aggregation1.00
    		Hemostasis0.43
    4Platelet degranulation
    		Platelet degranulation 1.00
    		Response to elevated platelet cytosolic Ca2+0.94
    5Integrin alphaIIb beta3 signaling
    		Integrin alphaIIb beta3 signaling1.00
    		Platelet Aggregation (Plug Formation)0.73

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for VWF
        Selected targets of C/EBPbeta

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


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

    5/15        Reactome Pathways for VWF (see all 15)
        Hemostasis
    Platelet Adhesion to exposed collagen
    Integrin cell surface interactions
    GP1b-IX-V activation signalling
    Intrinsic Pathway

    1 PharmGKB Pathway for VWF
        Platelet Aggregation Inhibitor Pathway, Pharmacodynamics

    3         Kegg Pathways  (Kegg details for VWF):
        Focal adhesion
    ECM-receptor interaction
    Complement and coagulation cascades


    VWF for pathways           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 (P042751, 2, 3 ENSP000002614054) via UniProtKB, MINT, STRING, and/or I2D (see all 37)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ZNF512BQ96KM62, 3MINT-60830 I2D: score=2 
    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
    COL1A1P024523, ENSP000002259644I2D: 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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001889liver development IEA--
    GO:0001890placenta development IEA--
    GO:0002576platelet degranulation TAS--
    GO:0006950response to stress ----
    GO:0007155cell adhesion IDA10764791


    VWF for ontologies           About GeneDecksing



    Drugs & Compounds
    for 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

    VWF for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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

    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)

    Search CenterWatch for drugs/clinical trials and news about VWF 

    Transcripts
    for VWF gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from 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)


    miRNA
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    Inhib. RNA
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    Clone
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    Primer
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    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

    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,
    PCR Arrays from 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 imageBioGPS
    CGAP TAG: TTCTGCTCTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    VWF expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    6 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EndotheliumMicrovesselsPericytesPericytes
    HeartEndocardiumEndocardial Tube CellsEndocardium
    OvaryOvigerous CordOvarian Somatic CellsOvary
    Skeletal MuscleHyoid Arch MusclesMyoblastsSkeletal Muscle
    Skeletal MuscleMandibular Arch MusclesMyoblastsSkeletal Muscle
    HeartHeart TubeHeart
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/22 LifeMap Cells (see all 22) 
    NameCategory
    PureStem™ endothelial progenitor 30-MV2-12 (Embryonic Progenitor Cell)Blood, Endothelium
    PureStem™ endothelial Progenitor 30-SM2-3 (Embryonic Progenitor Cell)Blood, Endothelium
    Endothelial progenitor cells (Adult Stem / Progenitor Cell)Endothelium
    Human umbilical vein endothelial cells (HUVEC) (Primary Cell)Endothelium
    PureStem™ endothelial progenitor RP1-MV2-18 (Embryonic Progenitor Cell)Endothelium
    PureStem™ endothelial progenitor 30-MV2-14 (Embryonic Progenitor Cell)Endothelium
    PureStem™ endothelial progenitor 30-SM2-1 (Embryonic Progenitor Cell)Endothelium
    Blimp1- mVenus and stella-ECFP genetically modified stem cells (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Endothelial-like cells (Generation of hemato...)
    Brain microvascular endothelial cells (Derivation of blood-...)

    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: Plasma

        SABiosciences Expression via Pathway-Focused 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 genome-wide validated SYBR primer pairs in human, mouse, rat for VWF
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat VWF
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat VWF
    QIAGEN 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
    for VWF gene

    (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)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for VWF gene from 3/15 species (see all 15)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves VWF1 von Willebrand factor 61.76(n)
    56.69(a)    		   419031  XM_417223.3  XP_417223.3 
    lizard
    (Anolis carolinensis)    		 Reptilia VWF6
    		 --
    		 55(a)
    		 1 ↔ 1
    		 5(81821509-82020084)
    zebrafish
    (Danio rerio)    		 Actinopterygii vwf1 von Willebrand factor 56.16(n)
    47.86(a)    		   570643  XM_002665310.2  XP_002665356.2 


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

    Paralogs
    for VWF gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for VWF gene
    MUC5AC2  TECTA2  OTOG2  MUC22  OTOGL2  MUC62  MUC5B2  MUC192  
    FCGBP2  BMPER2  
    2 SIMAP similar genes for VWF using alignment to 5 protein entries:     VWF_HUMAN (see all proteins):
    COL21A1    MG1

    VWF for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for VWF
    PGOHUM00000246202


    Genomic Variants
    for VWF gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 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

    10/4317 NCBI SNPs in VWF are shown (see all 4317)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs18003821,2
    		C,Fnon-pathogenic5980396(-) TGTCCG/ACTACG 2 /H /R mis12Minor allele frequency- A:0.01NA EU 5867
    rs617513101,2
    		Cpathogenic5910269(-) GCTCCC/TGCTGC 2 R C mis10--------
    rs617512961,2
    		Cpathogenic5930464(-) GTGTCC/TGAGTG 2 R * stg11Minor allele frequency- T:0.00NA 4552
    rs617506301,2
    		Cpathogenic5943051(-) AGCCTG/TCAGGA 2 C F mis10--------
    rs617506121,2
    		Cpathogenic5974719(-) TCCAGC/TGAATC 2 R * stg10--------
    rs617505951,2
    		Cpathogenic5979617(-) TCCCCC/TGAGAG 2 R * stg10--------
    rs617505841,2
    		Cpathogenic5979709(-) GCCCAC/TTGGAG 2 T I mis10--------
    rs617505811,2
    		Cpathogenic5979755(-) CTGCCC/TCTGAT 2 P S mis10--------
    rs617505791,2
    		Cpathogenic5979772(-) CATGGA/TCACCG 2 D V mis10--------
    rs617501171,2
    		Cpathogenic5979803(-) GTGACC/G/TGGGAG 3 R G W mis10--------

    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 for resequencing VWF
    DNA2.0 Custom Variant and Variant Library Synthesis for VWF

    Disorders / Diseases
    for 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
    VWF for disorders           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

    20/259 diseases for VWF (see all 259):    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

    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

    96 Novoseek disease relationships for VWF gene (see top 10)    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)
    platelet dysfunction 68.1 7 18175285 (1), 8604704 (1), 11375811 (1), 9163596 (1) (see all 7)
    abnormal platelets 67.4 8 16977571 (1), 17083505 (1), 18173689 (1), 16684011 (1) (see all 8)
    platelet aggregation, spontaneous 64.8 7 10093968 (1), 2375928 (1), 1722992 (1), 16353041 (1) (see all 5)
    arterial thrombosis 63.5 31 11182627 (3), 15382239 (2), 15662616 (2), 8598091 (1) (see all 21)
    thrombocytopenia 62.7 51 18805962 (3), 1803615 (3), 19740526 (2), 16246252 (2) (see all 35)
    cell damage 61.8 53 1325530 (3), 10412730 (2), 8640400 (1), 10725978 (1) (see all 45)
    uremic syndrome 60.6 6 10361861 (1), 12182911 (1), 8948657 (1), 8767102 (1) (see all 6)
    atherosclerosis 60.4 54 12425201 (3), 12149661 (3), 14560792 (3), 16102437 (3) (see all 32)
    thrombophilia 57.8 18 11877023 (2), 12551825 (2), 17059421 (1), 15771687 (1) (see all 14)
    cardiovascular diseases 57.3 40 19439298 (3), 10648020 (1), 11887976 (1), 15755826 (1) (see all 36)
    platelet disorder 55.7 4 18175285 (1), 10066148 (1), 15922776 (1)
    menorrhagia 55.5 14 11914650 (2), 17635724 (2), 11343385 (1), 16684010 (1) (see all 6)
    glanzmann thrombasthenia 54.9 4 8000916 (1), 20462086 (1), 10419888 (1)
    apc resistance 51.5 8 17395187 (2), 9812085 (1), 10695766 (1), 15850603 (1) (see all 7)
    qualitative platelet defects 49.7 1 10928477 (1)
    inflammation 49.2 92 19190805 (4), 16437691 (3), 10998075 (2), 12686329 (2) (see all 69)
    vascular diseases 48.4 34 8118478 (3), 9205537 (2), 7575774 (2), 7936365 (2) (see all 20)
    afibrinogenemia 48.1 1 18565126 (1)
    thrombocytosis 47.7 25 9432029 (3), 11686107 (2), 9433378 (1), 16977568 (1) (see all 11)
    venous occlusion 47.2 19 8239758 (3), 9893018 (3), 7578901 (3), 1838283 (2) (see all 9)
    coronary thrombosis 46.4 4 16377278 (1), 8725732 (1)
    thromboembolism 46 9 11156867 (1), 20008188 (1), 12439142 (1), 16888271 (1) (see all 9)
    microalbuminuria 44.8 46 17622488 (6), 8732705 (3), 12595584 (3), 1628764 (2) (see all 21)
    hemorrhagic diseases 44 4 16176858 (1), 1333302 (1), 10932002 (1)
    response acute phase 43.9 15 11914659 (3), 1934689 (1), 1490199 (1), 17236283 (1) (see all 11)
    hemarthrosis 41.9 1 19473418 (1)
    sclerosis systemic 40.9 11 1696033 (1), 1325530 (1), 11247328 (1), 11327251 (1) (see all 8)
    hemolytic-uremic syndrome 40.6 3 2191307 (1), 11446662 (1), 14631548 (1)
    inherited coagulation disorders 40.3 2 8900564 (1)
    raynauds phenomenon 38.9 15 1337960 (3), 16763543 (3), 8712862 (2), 11327251 (1) (see all 8)
    venous thrombosis 38.9 21 9459348 (3), 7703064 (1), 17393014 (1), 7823669 (1) (see all 15)
    myeloproliferative disorders 38.1 11 8400231 (2), 11686107 (1), 12540999 (1), 16977568 (1) (see all 8)
    thrombocythemia essential 36.9 3 7639273 (1), 1773983 (1), 8128427 (1)
    coronary heart disease 36.2 18 10760079 (1), 11909688 (1), 16807272 (1), 10894827 (1) (see all 16)
    albuminuria 36.1 7 2142055 (3), 10977040 (1), 12883448 (1), 10027580 (1)
    monoclonal gammopathy 36.1 3 10726000 (2), 12214161 (1)
    niddm 34.3 50 9498659 (5), 7698054 (4), 19029465 (3), 14976459 (3) (see all 22)
    coronary artery disease 33.7 15 16190382 (2), 9569183 (1), 18603284 (1), 11736957 (1) (see all 13)
    neovascularization 33.1 1 10892852 (1)
    pulmonary hypertension secondary 32.7 1 9688017 (1)
    peripheral vascular diseases 32.4 4 9205537 (1), 8584997 (1), 8541159 (1), 7526483 (1)
    myocardial infarction 32 26 10959690 (2), 16337503 (2), 19706887 (1), 11583309 (1) (see all 21)
    hypofibrinogenemia 31.7 3 18449414 (1), 10472551 (1), 2246818 (1)
    monoclonal gammopathies benign 30.9 4 11686107 (2)
    angiodysplasia 30.1 2 16542710 (1), 11554939 (1)
    uremia 30.1 5 11292197 (1), 8237998 (1), 11356999 (1), 8238012 (1)
    lupus erythematosus systemic 29.9 13 11686107 (2), 1696033 (1), 1902623 (1), 8428224 (1) (see all 9)
    reactive hyperemia 29.7 3 18295937 (1), 15691624 (1), 14514574 (1)
    vasculitis 29 26 8187441 (3), 7582719 (2), 8610223 (2), 1696033 (1) (see all 13)
    intermittent claudication 28.2 4 12865882 (1), 15033248 (1), 11455059 (1), 15649725 (1)
    anemia hemolytic 27.6 4 2119418 (1), 1942536 (1), 15103936 (1)
    acute myocardial infarction 27.3 28 11113268 (4), 10959690 (3), 8891805 (2), 1530813 (1) (see all 19)
    arterial occlusive diseases 27 5 9920521 (1), 9408014 (1), 19151843 (1), 7552524 (1)
    stroke 26.8 106 16888271 (6), 12796127 (5), 11755948 (4), 16990571 (4) (see all 39)
    preeclampsia 25.3 36 16968329 (3), 20197612 (3), 1796389 (3), 1803615 (2) (see all 12)
    insulin resistance 25.1 54 19029465 (4), 8901668 (3), 16631442 (3), 11453033 (3) (see all 24)
    atrial fibrillation 24.3 20 17005711 (4), 10941544 (3), 7626351 (2), 12935411 (1) (see all 13)
    essential hypertension 24.1 7 12425201 (3), 9416937 (1), 10511135 (1), 12149661 (1) (see all 5)
    antiphospholipid syndrome 23.8 4 9241739 (1), 8172182 (1), 8428224 (1), 17414220 (1)
    retinopathy 23.5 34 11239027 (4), 10892852 (3), 9498659 (2), 10077454 (2) (see all 13)
    necrosis 22.4 60 12544723 (2), 8911413 (2), 2105107 (1), 9468168 (1) (see all 55)
    atherosclerotic plaque 22.2 5 9569183 (2), 18347221 (1), 12883448 (1), 19820200 (1)
    hyperhomocysteinemia 21.7 2 9408014 (1), 12399074 (1)
    vascular neoplasms 21.2 2 15491324 (1)
    coronary atheroma 21 1 14617549 (1)
    hypothyroidism 20.6 13 17488803 (3), 18175285 (1), 18958631 (1), 11292187 (1) (see all 7)
    postpartum hemorrhage 20.6 2 12198592 (1), 15662615 (1)
    pt prolonged 20 1 19825916 (1)
    angiosarcoma 18.7 3 1739944 (2), 7512718 (1)
    eisenmenger syndrome 18.1 1 16708119 (1)
    purpura thrombocytopenic 17.7 1 14652658 (1)
    blood loss surgical 17.3 1 15511616 (1)
    granuloma pyogenic 17.1 3 16005715 (2), 10697276 (1)
    diabetic nephropathies 17.1 11 15958323 (2), 9869174 (1), 10760079 (1), 11251673 (1) (see all 7)
    cerebral infarction 16.4 8 11935674 (3), 12536649 (1), 19260323 (1), 20135067 (1) (see all 5)
    factor xii deficiency 16.3 1 1996556 (1)
    cerebral thrombosis 16.2 1 8403679 (1)
    subcutaneous hematoma 15.3 2 8494994 (1)
    associated conditions 14.3 2 1934689 (1), 12540999 (1)
    renal failure chronic 13.6 7 11292197 (1), 16449948 (1), 11446662 (1), 9498659 (1) (see all 6)
    hellp syndrome 13.5 8 16968329 (5), 12969811 (2), 17414220 (1)
    sickle cell disease 13.4 2 10770092 (1), 15965157 (1)
    microangiopathy diabetic 13.1 2 9805643 (1)
    renal disease 13 15 10760079 (3), 18272039 (2), 11023600 (1), 10900293 (1) (see all 10)
    systemic inflammatory response syndrome 12.8 3 9517590 (1), 20196724 (1)
    collagen diseases 12.6 6 8438904 (3), 1756253 (2), 1323930 (1)

    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

    Publications
    for VWF gene

    (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

    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
    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. (2000)
    2. von Willebrand factor storage and multimerization: 2 independent intracellular processes. (PubMed id 10961880)1, 2, 9 Haberichter S.L.... Montgomery R.R. (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. (2005)
    4. 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. (2001)
    5. 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. (1992)
    6. 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....Gomez Garcia E.B. (2004)
    7. 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. (1996)
    8. 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 Hilbert L.... Mazurier C. (1995)
    9. 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 Zhang Z.P.... Anvret M. (1994)
    10. 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 Klemm T....Paschke R. (2005)

    External Searches for VWF gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
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    Genome Databases showing VWF gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7450 HGNC: 12726 AceView: VWF Ensembl:ENSG00000110799 euGenes: HUgn7450
    ECgene: VWF Kegg: 7450 H-InvDB: VWF

    Other Databases showing VWF gene

    (According to HUGE)
    About This Section
    		   --

    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
    NameDescription
    PharmGKB entry for VWF Pharmacogenomics, SNPs, Pathways
    vWFhttp://www.vwf.group.shef.ac.uk/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/VWF
    Wikipedia http://en.wikipedia.org/wiki/Von_Willebrand_factor

    Intellectual Property
    for VWF gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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



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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
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