VWF Gene - Von Willebrand Factor
Essential glycoprotein in hemostasis and thrombosis
Gene Information Card
| Symbol | VWF |
|---|---|
| Full Name | von Willebrand factor |
| Gene Type | protein-coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 7450 ncbi.nlm.nih.gov/gene/7450 |
| Ensembl ID | ENSG00000110799 |
| UniProt ID | P04275 |
| OMIM ID | 193400 |
| HGNC ID | 12726 |
| Aliases | F8VWF, VWD, von Willebrand antigen 2 |
Description
The VWF gene encodes von Willebrand factor (VWF), a large multimeric glycoprotein essential for hemostasis. VWF mediates platelet adhesion to subendothelial collagen at sites of vascular injury and serves as a carrier for coagulation factor VIII, protecting it from proteolytic degradation. Mutations in VWF cause von Willebrand disease (VWD), the most common inherited bleeding disorder. VWF is primarily synthesized in endothelial cells and megakaryocytes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| von Willebrand disease (VWD) | Deficient or defective VWF leads to impaired platelet adhesion and reduced factor VIII half-life | ClinVar, OMIM |
| Thrombotic thrombocytopenic purpura (TTP) | ADAMTS13 deficiency results in uncleaved ultra-large VWF multimers causing microvascular thrombosis | OMIM |
| Hemophilia A (carrier effect) | VWF mutations can indirectly reduce factor VIII levels mimicking mild hemophilia A | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Blood | 123.4 | High |
| Artery | 89.2 | Medium |
| Lung | 45.6 | Medium |
| Liver | 12.3 | Low |
| Brain | 5.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (endothelial) | 256.7 | High expression |
| Meg-01 (megakaryocytic) | 198.3 | High expression |
| HEK293 | 2.1 | Low expression |
| K562 | 1.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2561G>A (p.Arg854Gln) | Missense | Common in type 2A VWD | Dominant negative, impaired multimerization |
| c.3614G>A (p.Arg1205His) | Missense | Common in type 2B VWD | Gain-of-function, increased platelet binding |
| c.841_843del (p.Phe281del) | Deletion | Rare | Loss-of-function, severe type 3 VWD |
| c.4781C>T (p.Thr1594Met) | Missense | Found in type 2N VWD | Reduced factor VIII binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and large deletions cause quantitative deficiency (type 3 VWD) or qualitative defects (type 1, 2A, 2M).
Gain of Function (GOF)
Type 2B mutations enhance binding to platelet glycoprotein Ib, causing spontaneous platelet aggregation and thrombocytopenia.
Dominant Negative (DN)
Type 2A missense mutations disrupt multimer assembly, interfering with wild-type VWF function.
View complete mutation data：
Gene Ontology (GO)
| • integrin binding (GO:0005178) | • protein binding (GO:0005515) |
| • blood coagulation (GO:0007596) | • platelet activation (GO:0030168) |
| • regulation of coagulation (GO:0050818) |
Pathways
• Platelet adhesion to exposed collagen
• Formation of platelet plug
• Factor VIII transport and stabilization
Protein Summary
Von Willebrand factor (UniProt P04275) is a large, multimeric glycoprotein synthesized as a pre-pro-polypeptide of 2813 amino acids. It undergoes extensive post-translational processing including dimerization, multimerization, and proteolytic cleavage. The mature protein contains multiple domains: D'D3 (factor VIII binding), A1 (platelet glycoprotein Ib binding), A2 (ADAMTS13 cleavage site), A3 (collagen binding), and C domains (integrin binding). VWF circulates as a series of multimers ranging from 500 to 20,000 kDa. Its primary functions are platelet adhesion and factor VIII stabilization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VWF Knockout HEK293 Cell Line | EDJ-KQ878 | Human | 7450 | Details Get a Quote |
| VWF Knockout HeLa Cell Line | EDJ-KQ54743 | Human | 7450 | Details Get a Quote |
| VWF Knockout A-549 Cell Line | EDJ-KQ63237 | Human | 7450 | Details Get a Quote |
| VWF Knockout HCT 116 Cell Line | EDJ-KQ71701 | Human | 7450 | Details Get a Quote |
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