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 matrix and extracellular space. Is expressed in 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
Expression
All Expression Data
5 figures from 2 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from Carrillo et al., 2010
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With vwf Human Ortholog
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 Willibrand disease, type 3 277480
Associated With vwf Via Experimental Models
No data available
Gene Ontology
Protein Domains
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 Uncharacterised domain, cysteine-rich
Domain IPR032361 von Willebrand factor, VWA N-terminal domain
Family IPR037578 Von Willebrand factor
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 Serine protease inhibitor-like superfamily Trypsin Inhibitor-like, cysteine rich domain Uncharacterised domain, cysteine-rich Von Willebrand factor von Willebrand factor A-like domain superfamily von Willebrand factor, type A von Willebrand factor, type D domain von Willebrand factor, VWA N-terminal domain VWFC domain
UniProtKB:E7F9Z1 2812
UniProtKB:F1QHS6 2059
UniProtKB:F1R1J2 444
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-vwf polyclonal
  • IHC
Sigma-Aldrich
1
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations