VWF Gene Summary
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]
Details
| Type | Protein Coding |
| Official Symbol | VWF |
| Official Name | von Willebrand factor [Source:HGNC Symbol;Acc:HGNC:12726] |
| Ensembl ID | ENSG00000110799 |
| Bio databases IDs | |
| Aliases | von Willebrand factor, Factor VIII related antigen |
| Synonyms | 6820430P06Rik,AI843063,B130011O06Rik,C630030D09,FVIIIRA,Von Willebrand factor,VWD |
| Species | Human, Homo sapiens |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Glycoprotein hormone beta chain homologues
- von Willebrand factor (vWF) type A domain
- C domain
- von Willebrand factor type D domain
- A2 domain
- von Willebrand factor type A domain
- cleavage site
- identical protein binding
- D4 domain
- von Willebrand factor type C domain
- trypsin inhibitor-like cysteine rich domain
- vWFA
- von Willebrand factor (vWF) type D domain
- chaperone binding
- VWA N-terminal
- A domain
- D4CK domain
- GP Ib alpha domain
- collagen binding domain
- protease binding
- RGD motif
- protein binding
- C8 domain
- immunoglobulin binding
- integrin binding domain
- Trypsin Inhibitor like cysteine rich domain
- integrin binding
- collagen binding
- pro domain
Pathways
Biological processes and signaling networks where the VWF gene plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- pruritus
- Crohn disease
- ulcerative colitis
- COVID-19
- thrombocytopenia
- ischemic stroke
- epithelial cancer
- depressive disorder
- heart failure
role in cell
- binding
- migration
- expression in
- cell viability
- apoptosis
- morphology
- formation
- formation in
- quantity
- phosphorylation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- membrane fraction
- pseudo Weibel-Palade body
- Cytoplasm
- cell surface
- cell borders
- perinuclear region
- pericentriolar regions
- vesicles
- Endoplasmic Reticulum
- demarcation membrane systems
- granules
- cytosol
- plasma membrane extracellular face
- alpha granules
- Weibel-Palade bodies
- cytoplasmic vesicles
- secretory granules
- extracellular matrix
- clathrin-coated vesicles
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the VWF gene, providing context for its role in the cell.
biological PROCESS
Functions and activities the gene product is involved in
- response to wounding
- cell adhesion
- blood coagulation
- cell-substrate adhesion
- platelet activation
- hemostasis
cellular COMPONENT
Where in the cell the gene product is active
- platelet alpha granule lumen
- platelet alpha granule
- extracellular space
- Weibel-Palade body
- extracellular vesicular exosome
- endoplasmic reticulum
- extracellular matrix
- extracellular region
molecular FUNCTION
What the gene product does at the molecular level
- identical protein binding
- protein binding
- collagen binding
- chaperone binding
- protease binding
- integrin binding
- immunoglobulin binding
- extracellular matrix structural constituent