VWF

Gene Information
 
Gene Symbol
VWF
 
Aliases
F8VWF, VWD
 
Entrez Gene ID
 
Gene Name
Von Willebrand factor
 
Chromosomal Location
12p13.3
 
HGNC ID
 
Summary
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)
 
GeneCards ID
 
UniGene
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0007155 Biological process Cell adhesion IDA 10764791
GO:0007599 Biological process Hemostasis IMP 10887119
GO:0009611 Biological process Response to wounding TAS 15029268
GO:0031589 Biological process Cell-substrate adhesion IDA 9079671
GO:0051260 Biological process Protein homooligomerization IDA 8874190
Protein Information
 
Protein Name
Von Willebrand antigen 2
 
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
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00092 VWA von Willebrand factor type A domain
PF00093 VWC von Willebrand factor type C domain
PF00094 VWD von Willebrand factor type D domain
PF01826 TIL Trypsin Inhibitor like cysteine rich domain
PF08742 C8 C8 domain
 
KEGG
 
OMIM
 
Phenotype MIM ID
 
Interactions

Associated Diseases

Diseases References
Arterial occlusive diseases 9920521, 9408014, 19151843, 7552524
Arterial thrombosis 11182627, 15382239, 15662616, 8598091, 15870546, 19706887, 11017197, 11755948, 9925990, 8948062, 12163004, 10233372, 17493665, 17075060, 15662611, 11843285, 11986216, 8490173, 9490916, 16568319, 19439298
Cancer (angiodysplasia) 16542710, 11554939
Cardiovascular diseases 19439298, 10648020, 11887976, 15755826, 16322530, 16449948, 20008188, 12370220, 12792699, 15380459, 16236894, 17507174, 9498659, 10580169, 12563218, 12921488, 19029465, 2142055, 17555832, 8118478, 16158039, 16095049, 15662616, 17598011, 16807651, 15562207, 12911589, 12399074, 11426020, 7491837, 12945874, 17132648, 19506354, 7972262, 11427638, 16458279
Cerebral infarction 11935674, 12536649, 19260323, 20135067, 1499407
   
References
 
Primary:

Plasma von Willebrand factor antigen levels are elevated in the classic phenotypes of polycystic ovary syndrome.

Koiou Ekaterini, Tziomalos Konstantinos, Katsikis Ilias, Dinas Konstantinos, Tsourdi Elena A, Kandaraki Eleni A, Delkos Dimitrios, Papadakis Efstathios, Panidis Dimitrios
Division of Endocrinology and Human Reproduction, Second Department of Obstetrics and Gynecology, Hippokration Hospital, Thessaloniki, Greece.
Hormones (Athens). 2012 Jan-Mar;11(1):77-85.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
Cardiovascular risks 
 
Rotterdam criteria 
Related 
 
Plasma vWF levels are elevated in women with PCOS. 
 
 
 
Rotterdam criteria 
Related 
140 PCOS, 40 controls 
Plasma VWF levels are elevated in women with PCOS 
 
 
 
 
Related 
32 PCOS, 20 controls  
Elevated levels of vWF:Ag and E selectin in PCOS women suggest endothelial dysfunction in this group of patients 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
26123797
Polycystic ovary syndrome: cardiovascular risk factors according to specific phenotypes. 
Clinical study 
24201678
Menorrhagia in patients with type I glycogen storage disease. 
Clinical study 
23585337, PMC3795423
Coagulation and fibrinolytic indices during the first trimester of pregnancy in women with polycystic ovary syndrome: a preliminary study. 
Clinical study 
21735693
[Effects of metformin therapy on markers of coagulation disorders in hyperinsulinemic women with polycystic ovary syndrome]. 
Effect of treatment 
21252248
Coagulation and fibrinolytic disturbances in women with polycystic ovary syndrome. 
Clinical study 

 

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