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
- Involved in hemostasis. Predicted to localize to extracellular region. Human ortholog(s) of this gene implicated in several diseases, including Behcet's disease; atrial fibrillation; end stage renal failure; essential thrombocythemia; and inherited blood coagulation disease (multiple). Is expressed in ball; head; intestinal epithelium; post-vent vasculature; and thrombocyte. 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 | 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
|
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