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VWF von Willebrand factor [ Homo sapiens (human) ]

Gene ID: 7450, updated on 5-Jul-2020

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

Genomic context

See VWF in Genome Data Viewer
Location:
12p13.31
Exon count:
52
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (5948877..6124670, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (6058040..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

NHGRI GWAS Catalog

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

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
chaperone binding IDA
Inferred from Direct Assay
more info
PubMed 
collagen binding IDA
Inferred from Direct Assay
more info
PubMed 
extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
immunoglobulin binding IDA
Inferred from Direct Assay
more info
PubMed 
integrin binding IPI
Inferred from Physical Interaction
more info
PubMed 
protease binding IDA
Inferred from Direct Assay
more info
PubMed 
protease binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein N-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
blood coagulation IMP
Inferred from Mutant Phenotype
more info
PubMed 
blood coagulation TAS
Traceable Author Statement
more info
 
blood coagulation, intrinsic pathway TAS
Traceable Author Statement
more info
 
cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
cell-substrate adhesion IDA
Inferred from Direct Assay
more info
PubMed 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
hemostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
platelet activation IDA
Inferred from Direct Assay
more info
PubMed 
platelet activation NAS
Non-traceable Author Statement
more info
PubMed 
platelet activation TAS
Traceable Author Statement
more info
 
platelet degranulation TAS
Traceable Author Statement
more info
 
response to wounding TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
von Willebrand factor
Names
coagulation factor VIII VWF

NCBI Reference Sequences (RefSeq)

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)

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, ENST00000261405.9

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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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