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VWF von Willebrand factor [ Homo sapiens (human) ]

Gene ID: 7450, updated on 17-Jan-2022

Summary

Official Symbol
VWFprovided by HGNC
Official Full Name
von Willebrand factorprovided by HGNC
Primary source
HGNC:HGNC:12726
See related
Ensembl:ENSG00000110799 MIM:613160
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

See VWF in Genome Data Viewer
Location:
12p13.31
Exon count:
52
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (5948877..6124670, complement)
105.20201022 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 anoctamin 2 Neighboring gene meiotic recombination hotspot 12D Neighboring gene uncharacterized LOC105369621 Neighboring gene Sharpr-MPRA regulatory region 3083 Neighboring gene small nucleolar RNA, H/ACA box 120 Neighboring gene RNA, 7SL, cytoplasmic 69, pseudogene Neighboring gene Sharpr-MPRA regulatory region 14257 Neighboring gene uncharacterized LOC105369623 Neighboring gene uncharacterized LOC105369622

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.
GeneReviews: Not available
New gene functions in megakaryopoiesis and platelet formation.
GeneReviews: Not available
von Willebrand disease type 1
MedGen: C1264039 OMIM: 193400 GeneReviews: von Willebrand Disease
Compare labs
von Willebrand disease type 2
MedGen: C1264040 OMIM: 613554 GeneReviews: von Willebrand Disease
Compare labs
von Willebrand disease type 3
MedGen: C1264041 OMIM: 277480 GeneReviews: von Willebrand Disease
Compare labs
von Willebrand disorder
MedGen: C0042974 GeneReviews: von Willebrand Disease
Compare labs

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables chaperone binding IDA
Inferred from Direct Assay
more info
PubMed 
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 N-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in blood coagulation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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 

General protein information

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_000552.5NP_000543.3  von Willebrand factor preproprotein

    Status: REVIEWED

    Source sequence(s)
    AC005846, AW015780, BQ898017, CD690980, DB293903, M10321, X04385
    Consensus CDS
    CCDS8539.1
    Related
    ENSP00000261405.5, ENST00000261405.10
    Conserved Domains (12) summary
    smart00041
    Location:27272808
    CT; C-terminal cystine knot-like domain (CTCK)
    smart00214
    Location:22612321
    VWC; von Willebrand factor (vWF) type C domain
    smart00216
    Location:377540
    VWD; von Willebrand factor (vWF) type D domain
    smart00327
    Location:12771449
    VWA; von Willebrand factor (vWF) type A domain
    smart00832
    Location:10531127
    C8; This domain contains 8 conserved cysteine residues
    pfam00093
    Location:25822644
    VWC; von Willebrand factor type C domain
    cl17735
    Location:350394
    VWC; von Willebrand factor type C domain
    pfam00092
    Location:14981658
    VWA; von Willebrand factor type A domain
    pfam00094
    Location:19502102
    VWD; von Willebrand factor type D domain
    pfam08742
    Location:21382199
    C8; C8 domain
    pfam16164
    Location:11981276
    VWA_N2; VWA N-terminal
    cd19941
    Location:652707
    TIL; trypsin inhibitor-like cysteine rich domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

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