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    VWF von Willebrand factor [ Homo sapiens (human) ]

    Gene ID: 7450, updated on 3-Apr-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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    Location:
    12p13.31
    Exon count:
    53
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (5948877..6124670, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (5956421..6132275, complement)
    105.20220307 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. Vascular endothelial-derived Von Willebrand factor inhibits lung cancer progression through the αvβ3/ERK1/2 axis. Lu Y, et al. Toxicol Appl Pharmacol, 2023 Jun 1. PMID 37068611
    2. Missense Variants of von Willebrand Factor in the Background of COVID-19 Associated Coagulopathy. Elek Z, et al. Genes (Basel), 2023 Feb 28. PMID 36980889, Free PMC Article
    3. Hidden behind thromboinflammation: revealing the roles of von Willebrand factor in sickle cell disease pathophysiology. Vital EF, et al. Curr Opin Hematol, 2023 May 1. PMID 36853830, Free PMC Article
    4. von Willebrand factor: from figurant to main character in the scene of inflammation. Lenting PJ, et al. J Thromb Haemost, 2023 Apr. PMID 36754680
    5. Changes in von Willebrand Factor Multimers, Concentration, and Function During Pediatric Extracorporeal Membrane Oxygenation. Van Den Helm S, et al. Pediatr Crit Care Med, 2023 Apr 1. PMID 36602314

    See all (1016) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. Coagulation factor VIII regulates von Willebrand factor homeostasis invivo.
      Title: Coagulation factor VIII regulates von Willebrand factor homeostasis invivo.
    5. 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.
    6. Evaluating von Willebrand factor and ADAMTS13 levels in thalassemia major patients and assessing a possible association with Thrombospondin-1.
      Title: Evaluating von Willebrand factor and ADAMTS13 levels in thalassemia major patients and assessing a possible association with Thrombospondin-1.
    7. Impact of the von Willebrand factor-ADAMTS-13 axis on the risk of future venous thromboembolism.
      Title: Impact of the von Willebrand factor-ADAMTS-13 axis on the risk of future venous thromboembolism.
    8. Small Extracellular Vesicle-Derived vWF Induces a Positive Feedback Loop between Tumor and Endothelial Cells to Promote Angiogenesis and Metastasis in Hepatocellular Carcinoma.
      Title: Small Extracellular Vesicle-Derived vWF Induces a Positive Feedback Loop between Tumor and Endothelial Cells to Promote Angiogenesis and Metastasis in Hepatocellular Carcinoma.
    9. ATF2 orchestrates macrophage differentiation and activation to promote antibacterial responses.
      Title: ATF2 orchestrates macrophage differentiation and activation to promote antibacterial responses.
    10. von Willebrand factor binds to angiopoietin-2 within endothelial cells and after release from Weibel-Palade bodies.
      Title: von Willebrand factor binds to angiopoietin-2 within endothelial cells and after release from Weibel-Palade bodies.
    Submit: New GeneRIF Correction See all GeneRIFs (859)

    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_2023_10

    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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