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Aliases for VWF Gene

Aliases for VWF Gene

  • Von Willebrand Factor 2 3 5
  • F8VWF 3 4
  • Coagulation Factor VIII VWF 3
  • VWD 3
  • VWF 4

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

  • 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]

GeneCards Summary for VWF Gene

VWF (Von Willebrand Factor) is a Protein Coding gene. Diseases associated with VWF include Von Willebrand Disease, Type 1 and Von Willebrand Disease, Types 2A, 2B, 2M, And 2N. Among its related pathways are Platelet activation and Formation of Fibrin Clot (Clotting Cascade). GO annotations related to this gene include protein homodimerization activity and integrin binding. An important paralog of this gene is OTOG.

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

Enhancers for VWF Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around VWF on UCSC Golden Path with GeneCards custom track

Promoters for VWF Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around VWF on UCSC Golden Path with GeneCards custom track

Genomic Location for VWF Gene

Chromosome:
12
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

Genes around VWF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VWF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 1720
  • Glycosylation at Asn 99, Asn 156, Asn 211, Asn 666, Asn 857, Asn 1147, Asn 1231, Thr 1248, Thr 1255, Thr 1256, Ser 1263, Thr 1468, Thr 1477, Ser 1486, Thr 1487, Asn 1515, Asn 1574, Thr 1679, Asn 2223, Asn 2290, Thr 2298, Asn 2357, Asn 2400, Asn 2546, Asn 2585, and Asn 2790
  • Modification sites at PhosphoSitePlus

Other Protein References for VWF Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for VWF Gene

Domains & Families for VWF Gene

Gene Families for VWF Gene

Suggested Antigen Peptide Sequences for VWF Gene

Graphical View of Domain Structure for InterPro Entry

P04275

UniProtKB/Swiss-Prot:

VWF_HUMAN :
  • The von Willebrand antigen 2 is required for multimerization of vWF and for its targeting to storage granules.
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:0005518 collagen binding IDA 2056120
GO:0047485 protein N-terminus binding IPI 7721887
genes like me logo Genes that share ontologies with VWF: view
genes like me logo Genes that share phenotypes with VWF: view

Human Phenotype Ontology for VWF Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for VWF Gene

MGI Knock Outs for VWF:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets 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
plasma membrane 4
cytosol 3
nucleus 3
cytoskeleton 2
golgi apparatus 2
lysosome 2
vacuole 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for VWF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031093 platelet alpha granule lumen TAS --
genes like me logo Genes that share ontologies with VWF: view

Pathways & Interactions for VWF Gene

SuperPathways for VWF Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 Formation of Fibrin Clot (Clotting Cascade)
3 Integrin alphaIIb beta3 signaling
4 Platelet activation, signaling and aggregation
5 Complement and coagulation cascades
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:0002576 platelet degranulation TAS --
GO:0009611 response to wounding TAS 15029268
GO:0051260 protein homooligomerization IDA 8874190
genes like me logo Genes that share ontologies with VWF: view

No data available for SIGNOR curated interactions for VWF Gene

Drugs & Compounds for VWF Gene

(72) Drugs for VWF Gene - From: DrugBank, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Antihemophilic Factor Approved, Investigational Pharma Target, binder 0
ARC1779 Investigational Pharma Target 0
ALX-0081 Pharma binder 0
ALX-0681 Pharma 0
Factor VIII Pharma 277

(69) Additional Compounds for VWF Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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) (x4.4).

Protein differential expression in normal tissues from HIPED for VWF Gene

This gene is overexpressed in Peripheral blood mononuclear cells (21.8), Platelet (14.4), and Monocytes (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with VWF: view

Protein tissue co-expression partners for VWF Gene

- Elite partner

Primer Products

Orthologs for VWF Gene

This gene was present in the common ancestor of animals.

Orthologs for VWF Gene

Organism Taxonomy Gene Similarity Type Details
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
chimpanzee
(Pan troglodytes)
Mammalia VWF 35
  • 99.16 (n)
  • 99.04 (a)
VWF 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Vwf 35
  • 83.1 (n)
  • 82.25 (a)
oppossum
(Monodelphis domestica)
Mammalia VWF 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 25 (a)
ManyToMany
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 37
  • 30 (a)
Hml 36
  • 16 (a)
OneToMany
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

(3) 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
VAR_005782 Von Willebrand disease 3 (VWD3)
VAR_005783 Von Willebrand disease 2 (VWD2)
VAR_005784 Von Willebrand disease 2 (VWD2)
rs1063856 - 6,044,368(-) AGTGT(A/C/G)CCAAA reference, missense
VAR_005786 Von Willebrand disease 2 (VWD2)

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

Variation tolerance for VWF Gene

Residual Variation Intolerance Score: 99% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 20.10; 99.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for VWF Gene

Human Gene Mutation Database (HGMD)
VWF

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

Disorders for VWF Gene

MalaCards: The human disease database

(97) MalaCards diseases for VWF Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
von willebrand disease, type 1
  • type 1 von willebrand disease
von willebrand disease, types 2a, 2b, 2m, and 2n
  • von willebrand disease type 2a
von willibrand disease, type 3
  • type 3 von willebrand disease
von willebrand's disease
  • vascular hemophilia
type 2b von willebrand disease
  • von willebrand disease type iib
- elite association - COSMIC cancer census association via MalaCards
Search VWF in MalaCards View complete list of genes associated with diseases

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.

Genatlas disease for VWF Gene

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

Relevant External Links for VWF

Genetic Association Database (GAD)
VWF
Human Genome Epidemiology (HuGE) Navigator
VWF
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
VWF
genes like me logo Genes that share disorders with VWF: view

Publications for VWF Gene

  1. A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion. (PMID: 10887119) Allen S. … Daly M.E. (Blood 2000) 3 4 23 67
  2. Expression of terminal alpha2-6-linked sialic acid on von Willebrand factor specifically enhances proteolysis by ADAMTS13. (PMID: 19965639) McGrath R.T. … O'Donnell J.S. (Blood 2010) 3 23
  3. Proteolytic resistance conferred to fibrinogen by von Willebrand factor. (PMID: 20024497) Tanka-Salamon A. … Komorowicz E. (Thromb. Haemost. 2010) 3 23
  4. 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. (PMID: 20156642) Daidone V. … Casonato A. (Thromb. Res. 2010) 3 23
  5. Type 1 von Willebrand disease due to reduced von Willebrand factor synthesis and/or survival: observations from a case series. (PMID: 20303469) Casonato A. … Pagnan A. (Transl Res 2010) 3 23

Products for VWF Gene

  • Addgene plasmids for VWF

Sources for VWF Gene

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