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Aliases for VWF Gene

Aliases for VWF Gene

  • Von Willebrand Factor 2 3
  • F8VWF 3 4
  • Coagulation Factor VIII VWF 3
  • VWD 3
  • VWF 4
  • F8 6

External Ids for VWF Gene

Previous HGNC Symbols for VWF Gene

  • F8VWF

Previous GeneCards Identifiers for VWF Gene

  • GC12M005930
  • GC12M005928
  • GC12M006058

Summaries for VWF Gene

Entrez Gene Summary for VWF Gene

  • The glycoprotein encoded by this gene functions as both an antihemophilic factor carrier and a platelet-vessel wall mediator in the blood coagulation system. It is crucial to the hemostasis process. Mutations in this gene or deficiencies in this protein result in von Willebrand's disease. An unprocessed pseudogene has been found on chromosome 22. [provided by RefSeq, Jul 2008]

GeneCards Summary for VWF Gene

VWF (Von Willebrand Factor) is a Protein Coding gene. Diseases associated with VWF include von willebrand's disease and von willebrand disease, type 1. Among its related pathways are PI3K-Akt signaling pathway and Signaling by GPCR. GO annotations related to this gene include protein homodimerization activity and protein N-terminus binding. An important paralog of this gene is OTOGL.

UniProtKB/Swiss-Prot for VWF Gene

  • Important in the maintenance of hemostasis, it promotes adhesion of platelets to the sites of vascular injury by forming a molecular bridge between sub-endothelial collagen matrix and platelet-surface receptor complex GPIb-IX-V. Also acts as a chaperone for coagulation factor VIII, delivering it to the site of injury, stabilizing its heterodimeric structure and protecting it from premature clearance from plasma

Gene Wiki entry for VWF Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VWF Gene

Genomics for VWF Gene

Regulatory Elements for VWF Gene

Genomic Location for VWF Gene

Start:
5,948,874 bp from pter
End:
6,124,770 bp from pter
Size:
175,897 bases
Orientation:
Minus strand

Genomic View for VWF Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for VWF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VWF Gene

Proteins for VWF Gene

  • Protein details for VWF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04275-VWF_HUMAN
    Recommended name:
    von Willebrand factor
    Protein Accession:
    P04275
    Secondary Accessions:
    • Q8TCE8
    • Q99806

    Protein attributes for VWF Gene

    Size:
    2813 amino acids
    Molecular mass:
    309265 Da
    Quaternary structure:
    • Multimeric. Interacts with F8.
    SequenceCaution:
    • Sequence=AAB59512.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for VWF Gene

    Alternative splice isoforms for VWF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VWF Gene

Proteomics data for VWF Gene at MOPED

Post-translational modifications for VWF Gene

  • All cysteine residues are involved in intrachain or interchain disulfide bonds
  • N- and O-glycosylated.
  • Ubiquitination at Lys1720
  • Glycosylation at Asn99, Asn156, Asn211, Asn666, Asn857, Asn1147, Asn1231, Thr1248, Thr1255, Thr1256, Ser1263, Thr1468, Thr1477, Ser1486, Thr1487, Asn1515, Asn1574, Thr1679, Asn2223, Asn2290, Thr2298, Asn2357, Asn2400, Asn2546, Asn2585, and Asn2790
  • Modification sites at PhosphoSitePlus

Other Protein References for VWF Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for VWF Gene

Domains for VWF Gene

Gene Families for VWF Gene

HGNC:

Suggested Antigen Peptide Sequences for VWF Gene

Graphical View of Domain Structure for InterPro Entry

P04275

UniProtKB/Swiss-Prot:

VWF_HUMAN :
  • P04275
Domain:
  • The von Willebrand antigen 2 is required for multimerization of vWF and for its targeting to storage granules
  • Contains 1 CTCK (C-terminal cystine knot-like) domain.
  • Contains 4 TIL (trypsin inhibitory-like) domains.
  • Contains 3 VWFA domains.
  • Contains 3 VWFC domains.
  • Contains 4 VWFD domains.
genes like me logo Genes that share domains with VWF: view

Function for VWF Gene

Molecular function for VWF Gene

GENATLAS Biochemistry: coagulation factor VIII (von Willebrand factor),expressed in endothelial megakaryocytes,stored in platelets alpha-granules and within the Weibel-Palade bodies of epitheliall cells and released into the plasma forming disulfide-linked multimeric structure,assembled from dimers
UniProtKB/Swiss-Prot Function: Important in the maintenance of hemostasis, it promotes adhesion of platelets to the sites of vascular injury by forming a molecular bridge between sub-endothelial collagen matrix and platelet-surface receptor complex GPIb-IX-V. Also acts as a chaperone for coagulation factor VIII, delivering it to the site of injury, stabilizing its heterodimeric structure and protecting it from premature clearance from plasma

Gene Ontology (GO) - Molecular Function for VWF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001948 glycoprotein binding IDA 16409464
GO:0002020 protease binding IPI 12775718
GO:0005178 integrin binding IPI 9079671
GO:0005515 protein binding IPI 11943773
GO:0005518 collagen binding IDA 2056120
genes like me logo Genes that share ontologies with VWF: view
genes like me logo Genes that share phenotypes with VWF: view

Animal Models for VWF Gene

MGI Knock Outs for VWF:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for VWF Gene

Localization for VWF Gene

Subcellular locations from UniProtKB/Swiss-Prot for VWF Gene

Secreted. Secreted, extracellular space, extracellular matrix. Note=Localized to storage granules.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for VWF Gene COMPARTMENTS Subcellular localization image for VWF gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
cytoskeleton 3
golgi apparatus 2
nucleus 2
plasma membrane 2
lysosome 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for VWF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005783 endoplasmic reticulum IDA 6754744
GO:0009897 external side of plasma membrane IEA --
GO:0031012 extracellular matrix IDA 6754744
genes like me logo Genes that share ontologies with VWF: view

Pathways for VWF Gene

genes like me logo Genes that share pathways with VWF: view

Gene Ontology (GO) - Biological Process for VWF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001889 liver development IEA --
GO:0001890 placenta development IEA --
GO:0002576 platelet degranulation TAS --
GO:0007155 cell adhesion IDA 10764791
GO:0007596 blood coagulation TAS --
genes like me logo Genes that share ontologies with VWF: view

Compounds for VWF Gene

(1) Drugbank Compounds for VWF Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Antihemophilic Factor
  • AHF
target binder

(135) Novoseek inferred chemical compound relationships for VWF Gene

Compound -log(P) Hits PubMed IDs
ristocetin 97.1 200
desmopressin 91.1 261
fibrinogen 87.2 341
crotalin 72.1 2
calin 66 4
genes like me logo Genes that share compounds with VWF: view

Transcripts for VWF Gene

Unigene Clusters for VWF Gene

Von Willebrand factor:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for VWF Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: - - -
SP2:
SP3:
SP4:
SP5:
SP6:

ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38a · 38b ^ 39a · 39b ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47a ·
SP1: - -
SP2:
SP3:
SP4:
SP5:
SP6:

ExUns: 47b ^ 48 ^ 49a · 49b ^ 50a · 50b ^ 51 ^ 52 ^ 53
SP1: - -
SP2:
SP3: -
SP4:
SP5:
SP6:

Relevant External Links for VWF Gene

GeneLoc Exon Structure for
VWF
ECgene alternative splicing isoforms for
VWF

Expression for VWF Gene

mRNA expression in normal human tissues for VWF Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for VWF Gene

This gene is overexpressed in Adipose - Visceral (Omentum) (4.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for VWF Gene

SOURCE GeneReport for Unigene cluster for VWF Gene Hs.440848

mRNA Expression by UniProt/SwissProt for VWF Gene

P04275-VWF_HUMAN
Tissue specificity: Plasma
genes like me logo Genes that share expressions with VWF: view

Orthologs for VWF Gene

This gene was present in the common ancestor of animals.

Orthologs for VWF Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia VWF 35
  • 99.16 (n)
  • 99.04 (a)
VWF 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia VWF 35
  • 83.61 (n)
  • 81.33 (a)
VWF 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia VWF 35
  • 87.2 (n)
  • 86.21 (a)
VWF 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Vwf 35
  • 83.68 (n)
  • 83.4 (a)
Vwf 16
Vwf 36
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia VWF 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 25 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Vwf 35
  • 83.1 (n)
  • 82.25 (a)
chicken
(Gallus gallus)
Aves VWF 35
  • 61.71 (n)
  • 56.63 (a)
VWF 36
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia VWF 36
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia vwf 35
  • 60.41 (n)
  • 55.42 (a)
zebrafish
(Danio rerio)
Actinopterygii vwf 35
  • 56.17 (n)
  • 47.62 (a)
vwf 36
  • 46 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Hml 36
  • 16 (a)
OneToMany
Hml 37
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 29 (a)
OneToMany
CSA.4002 36
  • 29 (a)
OneToMany
Species with no ortholog for VWF:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for VWF Gene

ENSEMBL:
Gene Tree for VWF (if available)
TreeFam:
Gene Tree for VWF (if available)

Paralogs for VWF Gene

Paralogs for VWF Gene

Selected SIMAP similar genes for VWF Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for VWF Gene

genes like me logo Genes that share paralogs with VWF: view

Variants for VWF Gene

Sequence variations from dbSNP and Humsavar for VWF Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs24177 -- 5,984,916(+) ATCCA(A/G)TCGGT intron-variant
rs170048 -- 6,041,598(+) cgccc(A/G)ccacc intron-variant
rs177702 -- 5,985,679(+) AAAGC(A/G)AGGTT intron-variant
rs183356 -- 6,041,658(+) ttacc(A/G)ggatg intron-variant
rs188616 -- 6,041,592(+) tacag(A/G)cgccc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for VWF Gene

Variant ID Type Subtype PubMed ID
nsv470262 CNV Gain 18288195
nsv468988 CNV Gain 19166990
nsv898628 CNV Gain 21882294
esv269412 CNV Insertion 20981092
esv2549788 CNV Deletion 19546169
esv26513 CNV Gain 19812545
dgv1350n71 CNV Loss 21882294
nsv509451 CNV Insertion 20534489
nsv898631 CNV Loss 21882294
nsv832320 CNV Loss 17160897

Relevant External Links for VWF Gene

HapMap Linkage Disequilibrium report
VWF
Human Gene Mutation Database (HGMD)
VWF
Locus Specific Mutation Databases (LSDB)
VWF

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VWF Gene

Disorders for VWF Gene

(3) OMIM Diseases for VWF Gene (613160)

UniProtKB/Swiss-Prot

VWF_HUMAN
  • von Willebrand disease 1 (VWD1) [MIM:193400]: A common hemorrhagic disorder due to defects in von Willebrand factor protein and resulting in impaired platelet aggregation. Von Willebrand disease type 1 is characterized by partial quantitative deficiency of circulating von Willebrand factor, that is otherwise structurally and functionally normal. Clinical manifestations are mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma. {ECO:0000269 PubMed:10887119, ECO:0000269 PubMed:11698279}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • von Willebrand disease 2 (VWD2) [MIM:613554]: A hemorrhagic disorder due to defects in von Willebrand factor protein and resulting in altered platelet aggregation. Von Willebrand disease type 2 is characterized by qualitative deficiency and functional anomalies of von Willebrand factor. It is divided in different subtypes including 2A, 2B, 2M and 2N (Normandy variant). The mutant VWF protein in types 2A, 2B and 2M are defective in their platelet-dependent function, whereas the mutant protein in type 2N is defective in its ability to bind factor VIII. Clinical manifestations are mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma. {ECO:0000269 PubMed:12406074, ECO:0000269 PubMed:1409710, ECO:0000269 PubMed:1419803, ECO:0000269 PubMed:1419804, ECO:0000269 PubMed:1420817, ECO:0000269 PubMed:1429668, ECO:0000269 PubMed:1672694, ECO:0000269 PubMed:1673047, ECO:0000269 PubMed:1729889, ECO:0000269 PubMed:1761120, ECO:0000269 PubMed:1832934, ECO:0000269 PubMed:1906179, ECO:0000269 PubMed:2010538, ECO:0000269 PubMed:2011604, ECO:0000269 PubMed:21592258, ECO:0000269 PubMed:2786201, ECO:0000269 PubMed:7620154, ECO:0000269 PubMed:7734373, ECO:0000269 PubMed:7789955, ECO:0000269 PubMed:8011991, ECO:0000269 PubMed:8123843, ECO:0000269 PubMed:8123844, ECO:0000269 PubMed:8338947, ECO:0000269 PubMed:8348943, ECO:0000269 PubMed:8376405, ECO:0000269 PubMed:8435341, ECO:0000269 PubMed:8486782, ECO:0000269 PubMed:8547152, ECO:0000269 PubMed:8622978}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • von Willebrand disease 3 (VWD3) [MIM:277480]: A severe hemorrhagic disorder due to a total or near total absence of von Willebrand factor in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII. Bleeding usually starts in infancy and can include epistaxis, recurrent mucocutaneous bleeding, excessive bleeding after minor trauma, and hemarthroses. {ECO:0000269 PubMed:10887119, ECO:0000269 PubMed:7989040, ECO:0000269 PubMed:8088787}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(96) Novoseek inferred disease relationships for VWF Gene

Disease -log(P) Hits PubMed IDs
von willebrand disease 97.8 135
purpura thrombotic thrombocytopenic 87.5 81
prolonged bleeding time 82.7 39
von willebrand disease, platelet-type 82.2 8
coagulopathy 81 102

Genatlas disease for VWF Gene

Willebrand disease,types I,II A and II B and recessive form

Relevant External Links for VWF

GeneTests
VWF
GeneReviews
VWF
Genetic Association Database (GAD)
VWF
Human Genome Epidemiology (HuGE) Navigator
VWF
genes like me logo Genes that share disorders with VWF: view

Publications for VWF Gene

  1. Molecular study of von Willebrand disease: identification of potential mutations in patients with type IIA and type IIB. (PMID: 1420817) Pietu G. … Meyer D. (Blood Coagul. Fibrinolysis 1992) 3 4 23
  2. Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease. (PMID: 1729889) Murray E.W. … Lillicrap D. (Am. J. Hum. Genet. 1992) 3 4 23
  3. Molecular basis of von Willebrand disease type IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences. (PMID: 2010538) Randi A.M. … Sadler J.E. (J. Clin. Invest. 1991) 3 4 23
  4. Analysis of the relationship of von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia and identification of a potential type IIA vWD mutation (IIe865 to Thr). (PMID: 1673047) Iannuzzi M.C. … Ginsburg D. (Am. J. Hum. Genet. 1991) 3 4 23
  5. Identification of a candidate missense mutation in a family with von Willebrand disease type IIC. (PMID: 7789955) Schneppenheim R. … Zeiger B. (Hum. Genet. 1995) 3 4 23

Products for VWF Gene

Sources for VWF Gene

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