Basic Information

Symbol
VWF
RNA class
mRNA
Alias
Von Willebrand Factor F8VWF Factor VIII Related Antigen Coagulation Factor VIII VWF VWD VWF
Location (GRCh38)
12:5948877-6124770
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Tissue/body fluid identification
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_000552.5
Sequence length
8830.0 nt
GC content
0.5847

Transcripts

ID Sequence Length GC content
NM_000552.5 NCBI
AGCUCACAGCUAUUGUGGUGGGAAAGGGAGGGUGGUUGGUGGAUGUCAC… 8830 nt 0.5847
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]

Forensic Context

A study in human corpus cavernosum tissue demonstrated that the VWF is a highly expressed protein marker used to identify endothelial cells [Zhao et al. DOI:10.1038/s41467-022-31950-9]. Another single-cell RNA sequencing study of human erectile dysfunction tissue confirmed its expression in endothelial cells and noted specifically high expression in a fibroblast subcluster exhibiting endothelial signatures [Fang et al. DOI:10.3389/fendo.2022.874915].