Free for academic non-profit institutions. Other users need a Commercial license

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 Willibrand Disease, Type 3. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and RET signaling. GO annotations related to this gene include protein homodimerization activity and integrin binding. An important paralog of this gene is MUC5B.

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

Additional gene information for VWF Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12H006166 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.8 -43.3 -43320 3 PKNOX1 ATF1 ARNT TCF12 ZNF766 ZNF207 ZNF143 ATF7 FOS RUNX3 CD9 VWF ATN1 NTF3 TNFRSF1A TAPBPL VAMP1 PIR38862 PIR39839
GH12H006213 2 FANTOM5 Ensembl ENCODE dbSUPER 10.3 -100.0 -100024 23 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZBTB7B SLC30A9 CD9 PLEKHG6 VWF LPAR5 PIANP ING4 TAPBPL VAMP1 SCNN1A IFFO1
GH12H006195 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.3 -71.2 -71232 1 ARID4B SIN3A ZNF2 YY1 ZNF766 ZNF143 DEK REST ZNF592 SREBF1 VWF CD9 LOC105369623
GH12H006065 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +57.9 57885 2 CTCF PKNOX1 RAD21 YY1 ZFHX2 SCRT2 SMC3 MAFK EGR2 SCRT1 CD9 VWF PLEKHG6 TNFRSF1A VAMP1 RN7SL69P GC12M006024
GH12H006088 1.3 Ensembl ENCODE dbSUPER 12 +35.7 35728 1 SOX13 ESRRA FOXA2 MAX RARA ZFHX2 GLIS2 POLR2A ZNF366 FOS VWF CD9 LAG3 VAMP1 RN7SL69P GC12M006024
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers 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

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 posLast=9999, posLast=156156, Asn211, Asn666, Asn857, Asn1147, posLast=12311231, posLast=12481248, posLast=12551255, posLast=12561256, Ser1263, posLast=14681468, Thr1477, posLast=14861486, Thr1487, posLast=15151515, posLast=15741574, Thr1679, Asn2223, Asn2290, Thr2298, posLast=23572357, posLast=24002400, Asn2546, Asn2585, and posLast=27902790
  • Modification sites at PhosphoSitePlus

Other Protein References for VWF Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for VWF (VWF)

Assay 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

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.
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.

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:0005515 protein binding IPI 2839553
GO:0005518 collagen binding IDA 2056120
GO:0019865 immunoglobulin binding IDA 3121636
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for VWF
  • Applied Biological Materials Clones for VWF
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 3
nucleus 3
cytosol 3
cytoskeleton 2
lysosome 2
golgi apparatus 2
mitochondrion 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:0031012 extracellular matrix IDA 6754744
GO:0031091 platelet alpha granule NAS 9759493
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

SuperPathway Contained pathways
1 RET signaling
2 Signaling by moderate kinase activity BRAF mutants
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

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 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

No data available for SIGNOR curated interactions for VWF Gene

Drugs & Compounds for VWF Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Antihemophilic factor, human recombinant Approved, Investigational Pharma Target, binder 0
Egaptivon pegol Investigational Pharma Target 0
ALX-0081 Pharma binder 0
ALX-0681 Pharma 0
ANTIHEMOPHILIC FACTOR Pharma 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

Unigene Clusters for VWF Gene

Von Willebrand factor:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for VWF
  • Applied Biological Materials Clones for VWF
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for VWF Gene



Protein tissue co-expression partners for VWF Gene

NURSA nuclear receptor signaling pathways regulating expression of VWF Gene:

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
Organs:
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

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
chimpanzee
(Pan troglodytes)
Mammalia VWF 33 34
  • 99.16 (n)
dog
(Canis familiaris)
Mammalia VWF 33 34
  • 87.2 (n)
mouse
(Mus musculus)
Mammalia Vwf 33 16 34
  • 83.68 (n)
cow
(Bos Taurus)
Mammalia VWF 33 34
  • 83.61 (n)
rat
(Rattus norvegicus)
Mammalia Vwf 33
  • 83.1 (n)
oppossum
(Monodelphis domestica)
Mammalia VWF 34
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 25 (a)
ManyToMany
chicken
(Gallus gallus)
Aves VWF 33 34
  • 61.71 (n)
lizard
(Anolis carolinensis)
Reptilia VWF 34
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia vwf 33
  • 60.41 (n)
zebrafish
(Danio rerio)
Actinopterygii vwf 33 34
  • 56.17 (n)
fruit fly
(Drosophila melanogaster)
Insecta Hml 35 34
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 29 (a)
OneToMany
CSA.4002 34
  • 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)

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
rs121964894 Pathogenic, Von Willebrand disease 2 (VWD2) [MIM:613554] 6,036,488(-) AGGTC(C/T)GGCAT reference, missense
rs267607342 untested, Von Willebrand disease 2 (VWD2) [MIM:613554] 6,018,799(-) GGTGC(C/T)GCAGT reference, missense
rs41276738 Pathogenic, Von Willebrand disease 2 (VWD2) [MIM:613554] 6,034,812(+) ACTTC(C/T)GGTCC reference, missense
rs61748476 untested, Von Willebrand disease 2 (VWD2) [MIM:613554] 6,044,370(-) CGAGT(A/G)TACCA reference, missense
rs61748477 Pathogenic, Von Willebrand disease 2 (VWD2) [MIM:613554] 6,044,361(-) CAAAA(C/T)GTGCC reference, missense

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)

Relevant External Links for VWF Gene

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

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

Disorders for VWF Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
von willebrand disease, type 1
  • von willebrand's disease 1
von willebrand disease, types 2a, 2b, 2m, and 2n
  • von willebrand's disease 2
von willibrand disease, type 3
  • von willebrand's disease 3
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. Effect of von Willebrand factor Y/C1584 on in vivo protein level and function and interaction with ABO blood group. (PMID: 17119126) Davies JA … Bowen DJ (Blood 2007) 3 22 45 60
  2. 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 ME (Blood 2000) 3 4 22 60
  3. von Willebrand factor storage and multimerization: 2 independent intracellular processes. (PMID: 10961880) Haberichter SL … Montgomery RR (Blood 2000) 3 4 22 60
  4. Activation of human platelets by the membrane-expressed A1 domain of von Willebrand factor. (PMID: 9373253) Schulte am Esch J … Robson SC (Blood 1997) 3 4 22 60
  5. Substitution of cysteine for phenylalanine 751 in mature von Willebrand factor is a novel candidate mutation in a family with type IIA von Willebrand disease. (PMID: 8435341) Gaucher C … Mazurier C (British journal of haematology 1993) 3 4 22 60

Products for VWF Gene

Sources for VWF Gene

Content
Loading form....