Gene
vwf
- ID
- ZDB-GENE-070103-1
- Name
- von Willebrand factor
- Symbol
- vwf Nomenclature History
- Previous Names
-
- si:ch1073-474e24.1
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to be an extracellular matrix structural constituent. Acts upstream of or within hemostasis. Predicted to be located in extracellular region. Predicted to be active in extracellular matrix and extracellular space. Is expressed in several structures, including ball; head; intestinal epithelium; post-vent vasculature; and thrombocyte. Human ortholog(s) of this gene implicated in several diseases, including Behcet's disease; Bernard-Soulier syndrome; end stage renal disease; essential thrombocythemia; and von Willebrand's disease (multiple). Orthologous to human VWF (von Willebrand factor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Carrillo et al., 2010
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
von Willebrand's disease 1 | Alliance | von Willebrand disease, type 1 | 193400 |
von Willebrand's disease 2 | Alliance | von Willebrand disease, types 2A, 2B, 2M, and 2N | 613554 |
von Willebrand's disease 3 | Alliance | von Willebrand disease, type 3 | 277480 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR001007 | VWFC domain |
Domain | IPR001846 | von Willebrand factor, type D domain |
Domain | IPR002035 | von Willebrand factor, type A |
Domain | IPR002919 | Trypsin Inhibitor-like, cysteine rich domain |
Domain | IPR006207 | Cystine knot, C-terminal |
Domain | IPR014853 | VWF/SSPO/Zonadhesin-like, cysteine-rich domain |
Family | IPR050780 | Mucin/von Willebrand/Thrombospondin superfamily |
Homologous_superfamily | IPR036084 | Serine protease inhibitor-like superfamily |
Homologous_superfamily | IPR036465 | von Willebrand factor A-like domain superfamily |
Domain Details Per Protein
Protein | Additional Resources | Length | Cystine knot, C-terminal | Mucin/von Willebrand/Thrombospondin superfamily | Serine protease inhibitor-like superfamily | Trypsin Inhibitor-like, cysteine rich domain | von Willebrand factor A-like domain superfamily | von Willebrand factor, type A | von Willebrand factor, type D domain | VWFC domain | VWF/SSPO/Zonadhesin-like, cysteine-rich domain |
---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:E7F9Z1 | InterPro | 2812 |
Interactions and Pathways
No data available
Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
---|---|---|---|---|---|---|---|
Ab1-vwf | polyclonal |
|
Sigma-Aldrich
|
1 |
Plasmids
No data available