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    VWF von Willebrand factor [ Homo sapiens (human) ]

    Gene ID: 7450, updated on 10-Dec-2024

    Summary

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    Official Symbol
    VWFprovided by HGNC
    Official Full Name
    von Willebrand factorprovided by HGNC
    Primary source
    HGNC:HGNC:12726
    See related
    Ensembl:ENSG00000110799 MIM:613160; AllianceGenome:HGNC:12726
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    VWD; F8VWF
    Summary
    This gene encodes a glycoprotein involved in hemostasis. The encoded preproprotein is proteolytically processed following assembly into large multimeric complexes. These complexes function in the adhesion of platelets to sites of vascular injury and the transport of various proteins in the blood. Mutations in this gene result in von Willebrand disease, an inherited bleeding disorder. An unprocessed pseudogene has been found on chromosome 22. [provided by RefSeq, Oct 2015]
    Expression
    Broad expression in fat (RPKM 93.4), lung (RPKM 58.7) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See VWF in Genome Data Viewer
    Location:
    12p13.31
    Exon count:
    53
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (5948877..6124670, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (5956421..6132275, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (6058043..6233836, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene dynein light chain roadblock-type 1 pseudogene Neighboring gene anoctamin 2 Neighboring gene meiotic recombination hotspot F Neighboring gene MPRA-validated peak1541 silencer Neighboring gene meiotic recombination hotspot 12D Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:5916007-5917206 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:5921895-5922394 Neighboring gene NANOG hESC enhancer GRCh37_chr12:5927975-5928488 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:5936424-5937202 Neighboring gene uncharacterized LOC105369621 Neighboring gene MPRA-validated peak1543 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6017201-6017701 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6030281-6030782 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:6040249-6041448 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:6075167-6075353 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6076959-6077460 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:6078733-6079346 Neighboring gene Sharpr-MPRA regulatory region 15487 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6127715-6128214 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6167267-6167774 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6167775-6168282 Neighboring gene Sharpr-MPRA regulatory region 3083 Neighboring gene small nucleolar RNA, H/ACA box 120 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4156 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:6192008-6192754 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:6192755-6193499 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:6202408-6203004 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:6203005-6203600 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6225423-6225926 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6225927-6226428 Neighboring gene Sharpr-MPRA regulatory region 6202 Neighboring gene RNA, 7SL, cytoplasmic 69, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:6251513-6252070 Neighboring gene uncharacterized LOC124902866 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:6268183-6268756 Neighboring gene Sharpr-MPRA regulatory region 14257 Neighboring gene uncharacterized LOC105369623 Neighboring gene uncharacterized LOC105369622

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Relevance of chloride binding to von Willebrand factor in type 2B von Willebrand disease patients. Baronciani L, et al. J Thromb Haemost, 2010 Feb. PMID 19943880
    2. Von Willebrand Disease. Adam MP, et al. , 1993. PMID 20301765
    3. Common VWF exon 28 polymorphisms in African Americans affecting the VWF activity assay by ristocetin cofactor. Flood VH, et al. Blood, 2010 Jul 15. PMID 20231421, Free PMC Article
    4. Potentiation of wheat germ agglutinin aggregation of platelets by von Willebrand protein and by a 116,000 molecular weight tryptic fragment. Martin SE, et al. Thromb Res, 1983 Aug 1. PMID 20218000
    5. Microsatellite (GT)(n) is part of the von Willebrand factor (VWF) promoter region that influences the glucocorticoid-induced increase in VWF in Cushing's syndrome. Daidone V, et al. Thromb Res, 2010 Jun. PMID 20156642

    See all (1032) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The Role of Platelets and von Willebrand Factor in the Procoagulant Phenotype of Inflammatory Bowel Disease.
      Title: The Role of Platelets and von Willebrand Factor in the Procoagulant Phenotype of Inflammatory Bowel Disease.
    2. Improving our understanding on the clinical role of plasmin-mediated von Willebrand factor degradation.
      Title: Improving our understanding on the clinical role of plasmin-mediated von Willebrand factor degradation.
    3. O-glycan determinants regulate VWF trafficking to Weibel-Palade bodies.
      Title: O-glycan determinants regulate VWF trafficking to Weibel-Palade bodies.
    4. A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels.
      Title: A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels.
    5. Investigation of the role of von Willebrand factor in shear-induced platelet activation and functional alteration under high non-physiological shear stress.
      Title: Investigation of the role of von Willebrand factor in shear-induced platelet activation and functional alteration under high non-physiological shear stress.
    6. The common VWF variant p.Y1584C: detailed pathogenic examination of an enigmatic sequence change.
      Title: The common VWF variant p.Y1584C: detailed pathogenic examination of an enigmatic sequence change.
    7. Von Willebrand factor hyperactivity affects the outcome of lower limb revascularization in subjects with type 2 diabetes mellitus complicated by diabetic foot vasculopathy: An observational pilot study.
      Title: Von Willebrand factor hyperactivity affects the outcome of lower limb revascularization in subjects with type 2 diabetes mellitus complicated by diabetic foot vasculopathy: An observational pilot study.
    8. Complement C1q and von Willebrand factor interaction in atherosclerosis of human carotid artery.
      Title: Complement C1q and von Willebrand factor interaction in atherosclerosis of human carotid artery.
    9. Coagulation factor VIII regulates von Willebrand factor homeostasis invivo.
      Title: Coagulation factor VIII regulates von Willebrand factor homeostasis invivo.
    10. Von Willebrand factor is an independent predictor of short-term mortality in acutely ill patients with cirrhosis.
      Title: Von Willebrand factor is an independent predictor of short-term mortality in acutely ill patients with cirrhosis.
    Submit: New GeneRIF Correction See all GeneRIFs (864)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Hereditary von Willebrand disease
    MedGen: C5703318 GeneReviews: Von Willebrand Disease
    		not available
    von Willebrand disease type 1
    MedGen: C1264039 OMIM: 193400 GeneReviews: Von Willebrand Disease
    		not available
    von Willebrand disease type 2
    MedGen: C1264040 OMIM: 613554 GeneReviews: Von Willebrand Disease
    		not available
    von Willebrand disease type 3
    MedGen: C1264041 OMIM: 277480 GeneReviews: Von Willebrand Disease
    		not available

    EBI GWAS Catalog

    Description
    Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.
    EBI GWAS Catalog
    New gene functions in megakaryopoiesis and platelet formation.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of von Willebrand factor (VWF) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 downregulates vWF expression in human mesenchymal stem cells PubMed
    Tat tat HIV-1 Tat inhibits the differentiation of mesenchymal stem cells (MSCs) to endothelial cells by downregulating the expression of VEGF-induced endothelial markers such as Flt-1, KDR and vWF PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables collagen binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables extracellular matrix structural constituent RCA
    inferred from Reviewed Computational Analysis
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables immunoglobulin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables integrin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protease binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protease binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-folding chaperone binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in blood coagulation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in blood coagulation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cell adhesion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cell-substrate adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell-substrate adhesion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in hemostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in platelet activation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in platelet activation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of intracellular signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to wounding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Weibel-Palade body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in collagen-containing extracellular matrix HDA PubMed 
    located_in collagen-containing extracellular matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region HDA PubMed 
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular region NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in platelet alpha granule NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in platelet alpha granule lumen TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    von Willebrand factor
    Names
    Factor VIII related antigen
    coagulation factor VIII VWF

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009072.2 RefSeqGene

      Range
      5001..180794
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_587

    mRNA and Protein(s)

    1. NM_000552.5 → NP_000543.3  von Willebrand factor preproprotein

      Status: REVIEWED

      Source sequence(s)
      AC005846, AW015780, BQ898017, CD690980, DB293903, M10321, X04385
      Consensus CDS
      CCDS8539.1
      UniProtKB/Swiss-Prot
      P04275, Q8TCE8, Q99806
      UniProtKB/TrEMBL
      L8E853
      Related
      ENSP00000261405.5, ENST00000261405.10
      Conserved Domains (12) summary
      smart00041
      Location:2727 → 2808
      CT; C-terminal cystine knot-like domain (CTCK)
      smart00214
      Location:2261 → 2321
      VWC; von Willebrand factor (vWF) type C domain
      smart00216
      Location:377 → 540
      VWD; von Willebrand factor (vWF) type D domain
      smart00327
      Location:1277 → 1449
      VWA; von Willebrand factor (vWF) type A domain
      smart00832
      Location:1053 → 1127
      C8; This domain contains 8 conserved cysteine residues
      pfam00093
      Location:2582 → 2644
      VWC; von Willebrand factor type C domain
      cl17735
      Location:350 → 394
      VWC; von Willebrand factor type C domain
      pfam00092
      Location:1498 → 1658
      VWA; von Willebrand factor type A domain
      pfam00094
      Location:1950 → 2102
      VWD; von Willebrand factor type D domain
      pfam08742
      Location:2138 → 2199
      C8; C8 domain
      pfam16164
      Location:1198 → 1276
      VWA_N2; VWA N-terminal
      cd19941
      Location:652 → 707
      TIL; trypsin inhibitor-like cysteine rich domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      5948877..6124670 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429501.1 → XP_047285457.1  von Willebrand factor isoform X1

      UniProtKB/Swiss-Prot
      P04275, Q8TCE8, Q99806
      UniProtKB/TrEMBL
      L8E853

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      5956421..6132275 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373133.1 → XP_054229108.1  von Willebrand factor isoform X1

      UniProtKB/TrEMBL
      L8E853
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P04275.4 GenPept UniProtKB/Swiss-Prot:P04275

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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