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VWF von Willebrand factor [ Homo sapiens (human) ]

Gene ID: 7450, updated on 9-Nov-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
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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 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. The plasma von Willebrand factor O-glycome comprises a surprising variety of structures including ABH antigens and disialosyl motifs. Canis K, et al. J Thromb Haemost, 2010 Jan. PMID 19874459
  2. 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
  3. 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
  4. Abnormal VWF modifies megakaryocytopoiesis: studies of platelets and megakaryocyte cultures from patients with von Willebrand disease type 2B. Nurden P, et al. Blood, 2010 Apr 1. PMID 20118404
  5. VWF pseudogene: Mimics, masks and spoils. Kasatkar P, et al. Clin Chim Acta, 2010 Apr 2. PMID 20060388

See all (1000) 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

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)

Genotypes

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

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

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.

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