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 dis... See more...

Aliases for VWF Gene

Aliases for VWF Gene

  • Von Willebrand Factor 2 3 4 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, Type 2. Among its related pathways are RET signaling and Focal Adhesion. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and integrin binding. An important paralog of this gene is MUC5B.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for VWF Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for VWF Gene

Genomics for VWF Gene

GeneHancer (GH) Regulatory Elements for VWF Gene

Promoters and enhancers for VWF Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J006114 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 505.5 +4.7 4745 12.4 ZIC2 SKI NR2F2 FOXA2 MAFK NFE2 FOS GLIS1 GATA2 RARA VWF piR-35674-089 CD9 lnc-ANO2-7 piR-48209-104
GH12J006144 Promoter/Enhancer 1 EPDnew ENCODE dbSUPER 511.9 -21.1 -21116 2 ZNF623 NR2F2 FOS GATA2 JUN POLR2A ZNF316 VWF CD9 PLEKHG6 C1R lnc-CD9-5 piR-30449-034 lnc-CD9-6
GH12J006126 Enhancer 0.5 Ensembl dbSUPER 500.7 -1.8 -1831 0.4 ATF4 ATF3 VWF lnc-ANO2-7 HSALNG0088817
GH12J006166 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.8 -43.3 -43320 3.9 SP1 RBAK JUND FOS ZNF639 ZNF10 AFF1 TARDBP HES1 MEF2C piR-45863 CD9 VWF TNFRSF1A TAPBPL VAMP1 piR-46840 LOC105369623 lnc-CD9-5
GH12J006221 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.3 -104.1 -104104 15.2 ZNF217 ZSCAN5C POLR2G SP1 NCOR1 FOS ZFX ZNF10 EP300 ZIC2 CD9 PLEKHG6 VWF LPAR5 PIANP TAPBPL VAMP1 SCNN1A IFFO1 ENSG00000202318
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around VWF on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for VWF

Top Transcription factor binding sites by QIAGEN in the VWF gene promoter:
  • AML1a
  • Chx10
  • GATA-1
  • MyoD

Genomic Locations for VWF Gene

Genomic Locations for VWF Gene
chr12:5,948,874-6,124,770
(GRCh38/hg38)
Size:
175,897 bases
Orientation:
Minus strand
chr12:6,058,040-6,233,936
(GRCh37/hg19)
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

Post-translational modifications for VWF Gene

  • All cysteine residues are involved in intrachain or interchain disulfide bonds.
  • N- and O-glycosylated.
  • Glycosylation at Asn99, Asn156, Asn211, Asn368, 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
  • Glycosylation from GlyConnect
    • VWF_HUMAN (627)

Other Protein References for VWF Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for VWF Gene

Domains & Families for VWF Gene

Gene Families for VWF Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for VWF Gene

Blocks:
  • von Willebrand factor, type C
  • Transforming growth factor beta (TGFb)
  • Von Willebrand factor type A domain signature
  • Trypsin inhibitor-like, cysteine-rich TIL region
  • Cystine knot, C-terminal
  • Von Willebrand factor, type D
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for VWF Gene

GenScript: Design optimal peptide antigens:
  • von Willebrand factor, isoform CRA_d (Q8TCE8_HUMAN)
  • von Willebrand factor (VWF_HUMAN)

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.
genes like me logo Genes that share domains with VWF: view

Function for VWF Gene

Molecular function for VWF Gene

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.
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

Phenotypes From GWAS Catalog for VWF Gene

Gene Ontology (GO) - Molecular Function for VWF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 12775718
GO:0005178 integrin binding IPI 9079671
GO:0005201 extracellular matrix structural constituent RCA 23979707
GO:0005515 protein binding IPI,IEA 2839553
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

Human Phenotype Ontology for VWF Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for VWF Gene

MGI Knock Outs for VWF:
  • Vwf Vwf<tm1Wgr>
  • Vwf Vwf<tm3Aird>
  • Vwf Vwf<tm4Aird>
  • Vwf Vwf<tm2Aird>
  • Vwf Vwf<tm5Aird>
  • Vwf Vwf<tm1Aird>

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for VWF

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for VWF gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
plasma membrane 4
cytoskeleton 3
nucleus 3
cytosol 3
mitochondrion 2
endosome 2
lysosome 2
golgi apparatus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for VWF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS,HDA --
GO:0005783 endoplasmic reticulum IDA 6754744
GO:0031091 platelet alpha granule NAS 9759493
GO:0031093 platelet alpha granule lumen TAS --
GO:0033093 Weibel-Palade body IDA 3082891
genes like me logo Genes that share ontologies with VWF: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for VWF Gene

Pathways & Interactions for VWF Gene

PathCards logo

SuperPathways for VWF Gene

SuperPathway Contained pathways
1 RET signaling
2 Paradoxical activation of RAF signaling by kinase inactive BRAF
3 Formation of Fibrin Clot (Clotting Cascade)
4 Integrin alphaIIb beta3 signaling
5 Response to elevated platelet cytosolic Ca2+
genes like me logo Genes that share pathways with VWF: view

SIGNOR curated interactions for VWF Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for VWF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0007155 cell adhesion IEA,IDA 10764791
GO:0007596 blood coagulation TAS --
GO:0007597 blood coagulation, intrinsic pathway TAS --
GO:0007599 hemostasis IMP 10887119
genes like me logo Genes that share ontologies with VWF: view

Drugs & Compounds for VWF Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Antihemophilic Factor (Recombinant), PEGylated Approved, Investigational Pharma Target, Carrier, binder 0
Antihemophilic factor, human recombinant Approved, Investigational Pharma Target, binder 0
Caplacizumab Approved, Investigational Pharma Target 0
Efmoroctocog alfa Approved, Investigational Pharma Target, binding 0
Lonoctocog alfa Approved, Investigational Pharma Target, binder 0

(65) 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

mRNA/cDNA for VWF Gene

1 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for VWF

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

Expression for VWF Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for VWF Gene



Protein tissue co-expression partners for VWF Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for VWF

SOURCE GeneReport for Unigene cluster for VWF Gene:

Hs.440848

mRNA Expression by UniProt/SwissProt for VWF Gene:

P04275-VWF_HUMAN
Tissue specificity: Plasma.

Evidence on tissue expression from TISSUES for VWF Gene

  • Blood(4.9)
  • Heart(4.8)
  • Lung(4.7)
  • Bone marrow(4.5)
  • Liver(4.5)
  • Nervous system(4.2)
  • Muscle(3.4)
  • Kidney(2.6)
  • Eye(2.5)
  • Gall bladder(2.5)
  • Intestine(2.5)
  • Skin(2.5)
  • Spleen(2.5)
  • Lymph node(2.3)
  • Thyroid gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for VWF Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • face
  • head
  • nose
Thorax:
  • aorta
  • heart
  • heart valve
Abdomen:
  • intestine
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • uterus
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • skin
genes like me logo Genes that share expression patterns 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 31 30
  • 99.16 (n)
OneToOne
dog
(Canis familiaris)
Mammalia VWF 31 30
  • 87.2 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Vwf 17 31 30
  • 83.68 (n)
cow
(Bos Taurus)
Mammalia VWF 31 30
  • 83.61 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Vwf 30
  • 83.1 (n)
oppossum
(Monodelphis domestica)
Mammalia VWF 31
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 25 (a)
ManyToMany
chicken
(Gallus gallus)
Aves VWF 31 30
  • 61.71 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia VWF 31
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia vwf 30
  • 60.41 (n)
zebrafish
(Danio rerio)
Actinopterygii vwf 31 30
  • 56.17 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Hml 31 32
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 29 (a)
OneToMany
CSA.4002 31
  • 29 (a)
OneToMany
Species where no ortholog for VWF was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for VWF: view image

Paralogs for VWF Gene

(3) SIMAP similar genes for VWF Gene using alignment to 5 proteins:

  • VWF_HUMAN
  • H2DLA2_HUMAN
  • I3L4K4_HUMAN
  • L8E853_HUMAN
  • Q8TCE8_HUMAN

Pseudogenes.org Pseudogenes for VWF Gene

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

Variants for VWF Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for VWF Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
560630 Uncertain Significance: von Willebrand disorder 6,018,961(-) G/A MISSENSE_VARIANT
619934 Benign: not provided 6,022,792(-) TG/CA MISSENSE_VARIANT
626925 Likely Pathogenic: von Willebrand disorder 6,064,338(-) CG/C FRAMESHIFT_VARIANT
626928 Uncertain Significance: von Willebrand disorder 6,026,033(-) C/T MISSENSE_VARIANT
626931 Uncertain Significance: von Willebrand disorder 5,996,216(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for VWF Gene

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

Variant ID Type Subtype PubMed ID
dgv446e212 CNV loss 25503493
dgv447e212 CNV loss 25503493
esv2549788 CNV deletion 19546169
esv26513 CNV gain 19812545
esv3305134 CNV mobile element insertion 20981092
esv3323056 CNV insertion 20981092
esv3580088 CNV loss 25503493
esv3580383 CNV gain 25503493
nsv1043686 CNV loss 25217958
nsv1127244 CNV deletion 24896259
nsv468988 CNV gain 19166990
nsv470262 CNV gain 18288195
nsv509451 CNV insertion 20534489
nsv557155 CNV gain 21841781
nsv557191 CNV loss 21841781
nsv557192 CNV loss 21841781
nsv832320 CNV loss 17160897
nsv952788 CNV deletion 24416366

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)

Additional Variant Information for VWF Gene

Human Gene Mutation Database (HGMD)
VWF
SNPedia medical, phenotypic, and genealogical associations of SNPs for
VWF

SNP Genotyping and Copy Number Assay Products

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

Disorders for VWF Gene

MalaCards: The human disease database

(155) MalaCards diseases for VWF Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards