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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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VWF
von Willebrand factor
Chromosome 12 Β· 12p13.31
NCBI Gene: 7450Ensembl: ENSG00000110799.15HGNC: HGNC:12726UniProt: P04275
1,033PubMed Papers
23Diseases
4Drugs
454Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Highly StudiedVariant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protease bindingintegrin bindingcell-substrate adhesionpositive regulation of intracellular signal transductionVon Willebrand diseasevon Willebrand disease 3von Willebrand disease 2von Willebrand disease (hereditary or acquired)
✦AI Summary

Von Willebrand factor (VWF) is a multifunctional plasma glycoprotein essential for hemostasis and vascular biology. VWF's primary function is promoting platelet adhesion at sites of vascular injury by forming a molecular bridge between subendothelial collagen and platelet-surface receptor complex GPIb-IX-V 1. Additionally, VWF serves as a chaperone for coagulation factor VIII (FVIII), protecting it from premature clearance and delivering it to injury sites 1 2. In von Willebrand disease patients, VWF absence leads to premature loss of endogenous FVIII, creating a dual hemostatic defect 2. VWF expression varies significantly among different endothelial cell types, with particularly high levels in lymphatic endothelial cells where it co-localizes with FVIII in Weibel-Palade bodies 3. Beyond hemostasis, VWF plays important roles in inflammation by directing Weibel-Palade body biogenesis and recruiting leukocytes either directly or through platelet-mediated interactions 1. VWF mutations cause three types of von Willebrand disease, with type 1 being most common and associated with reduced VWF levels 4. The protein's activity is regulated by ADAMTS13 protease, which cleaves VWF multimers under physiological conditions 5.

Sources cited
1
VWF promotes platelet adhesion by bridging collagen and GPIb-IX-V, serves as FVIII chaperone, and plays roles in inflammation
PMID: 28671350
2
VWF deficiency leads to premature FVIII loss and dual hemostatic defect in von Willebrand disease
PMID: 25605439
3
VWF expression varies among endothelial cell types, with high levels in lymphatic endothelial cells where it co-localizes with FVIII
PMID: 35950488
4
Type 1 von Willebrand disease is most common and associated with reduced VWF levels
PMID: 17635702
5
ADAMTS13 protease regulates VWF activity by cleaving VWF multimers
PMID: 14727258
Disease Associationsβ“˜23
Von Willebrand diseaseOpen Targets
0.83Strong
von Willebrand disease 3Open Targets
0.80Strong
von Willebrand disease 2Open Targets
0.76Strong
von Willebrand disease (hereditary or acquired)Open Targets
0.74Strong
Von Willebrand disease type 1Open Targets
0.74Strong
Von Willebrand disease type 2Open Targets
0.70Strong
von Willebrand disease type 2BOpen Targets
0.70Moderate
hereditary von Willebrand diseaseOpen Targets
0.68Moderate
von Willebrand disease type 2AOpen Targets
0.67Moderate
von Willebrand disease 1Open Targets
0.65Moderate
von Willebrand disease type 2NOpen Targets
0.65Moderate
von Willebrand disease type 2MOpen Targets
0.64Moderate
cancerOpen Targets
0.62Moderate
hemophilia AOpen Targets
0.57Moderate
blood coagulation diseaseOpen Targets
0.56Moderate
thrombotic thrombocytopenic purpuraOpen Targets
0.56Moderate
venous thromboembolismOpen Targets
0.56Moderate
ThrombocytopeniaOpen Targets
0.55Moderate
hemorrhageOpen Targets
0.54Moderate
deep vein thrombosisOpen Targets
0.53Moderate
von Willebrand disease 1UniProt
von Willebrand disease 2UniProt
von Willebrand disease 3UniProt
Pathogenic Variants454
NM_000552.5(VWF):c.4082T>C (p.Leu1361Ser)Likely pathogenic
not provided|not specified|Hereditary von Willebrand disease|von Willebrand disease type 2M
β˜…β˜…β˜…β˜†2025β†’ Residue 1361
NM_000552.5(VWF):c.4541T>G (p.Phe1514Cys)Likely pathogenic
Von Willebrand disease type 2A|not provided
β˜…β˜…β˜…β˜†2025β†’ Residue 1514
NM_000552.5(VWF):c.4213AAG[3] (p.Lys1408del)Pathogenic
not provided|von Willebrand disease type 2M|von Willebrand disease type 2|Hereditary von Willebrand disease|von Willebrand disease type 1|VWF-related disorder
β˜…β˜…β˜…β˜†2025β†’ Residue 1408
NM_000552.5(VWF):c.4021C>T (p.Arg1341Trp)Pathogenic
not provided|von Willebrand disease type 2|von Willebrand disease type 1|Hereditary von Willebrand disease|Von Willebrand disease type 2B
β˜…β˜…β˜…β˜†2025β†’ Residue 1341
NM_000552.5(VWF):c.5347T>G (p.Ser1783Ala)Likely pathogenic
von Willebrand disease type 2|not provided|not specified|von Willebrand disease type 2M
β˜…β˜…β˜…β˜†2025β†’ Residue 1783
NM_000552.5(VWF):c.4010C>T (p.Pro1337Leu)Likely pathogenic
not provided|von Willebrand disease type 2|von Willebrand disease type 1|Von Willebrand disease type 2B
β˜…β˜…β˜…β˜†2025β†’ Residue 1337
NM_000552.5(VWF):c.4825G>A (p.Gly1609Arg)Pathogenic
not provided|von Willebrand disease type 2|Hereditary von Willebrand disease|Von Willebrand disease type 2A
β˜…β˜…β˜…β˜†2025β†’ Residue 1609
NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys)Pathogenic
not provided|Hereditary von Willebrand disease|von Willebrand disease type 2|von Willebrand disorder|von Willebrand disease type 2M
β˜…β˜…β˜…β˜†2025β†’ Residue 1399
NM_000552.5(VWF):c.4885G>A (p.Gly1629Arg)Pathogenic
not provided|Von Willebrand disease type 2A
β˜…β˜…β˜…β˜†2025β†’ Residue 1629
NM_000552.5(VWF):c.3568T>C (p.Cys1190Arg)Pathogenic
not provided|Hereditary von Willebrand disease|von Willebrand disease type 3|von Willebrand disease type 1|Von Willebrand disease type 2A
β˜…β˜…β˜…β˜†2025β†’ Residue 1190
NM_000552.5(VWF):c.3926T>A (p.Ile1309Asn)Likely pathogenic
Hereditary von Willebrand disease|Von Willebrand disease type 2B
β˜…β˜…β˜…β˜†2025β†’ Residue 1309
NM_000552.5(VWF):c.4885G>C (p.Gly1629Arg)Pathogenic
von Willebrand disease type 2|Von Willebrand disease type 2A
β˜…β˜…β˜…β˜†2025β†’ Residue 1629
NM_000552.5(VWF):c.3569G>A (p.Cys1190Tyr)Pathogenic
von Willebrand disease type 2|Reduced von Willebrand factor activity|von Willebrand disease type 1|not specified|Von Willebrand disease type 2A
β˜…β˜…β˜…β˜†2025β†’ Residue 1190
NM_000552.5(VWF):c.4606_4611del (p.His1536_Val1537del)Likely pathogenic
von Willebrand disease type 2|Von Willebrand disease type 2A
β˜…β˜…β˜…β˜†2025β†’ Residue 1536
NM_000552.5(VWF):c.3569G>T (p.Cys1190Phe)Likely pathogenic
von Willebrand disease type 2|Von Willebrand disease type 2A
β˜…β˜…β˜…β˜†2025β†’ Residue 1190
NM_000552.5(VWF):c.3944G>T (p.Arg1315Leu)Likely pathogenic
not provided|von Willebrand disease type 2
β˜…β˜…β˜…β˜†2025β†’ Residue 1315
NM_000552.5(VWF):c.3939G>C (p.Trp1313Cys)Likely pathogenic
Von Willebrand disease type 2B|not provided
β˜…β˜…β˜…β˜†2025β†’ Residue 1313
NM_000552.5(VWF):c.3831_3833del (p.Asp1277_Leu1278delinsGlu)Likely pathogenic
not provided|von Willebrand disease type 2
β˜…β˜…β˜…β˜†2025β†’ Residue 1277
NM_000552.5(VWF):c.3925A>G (p.Ile1309Val)Pathogenic
not provided|Hereditary von Willebrand disease|von Willebrand disease type 2|Von Willebrand disease type 2B
β˜…β˜…β˜…β˜†2025β†’ Residue 1309
NM_000552.5(VWF):c.2411G>T (p.Cys804Phe)Likely pathogenic
von Willebrand disease type 2N|not provided
β˜…β˜…β˜…β˜†2025β†’ Residue 804
View on ClinVar β†—
Drug Targets4
CAPLACIZUMABApproved
von Willebrand factor inhibitor
Recurrent thrombophlebitis
EGAPTIVON PEGOLPhase II
von Willebrand factor inhibitor
thrombotic disease
VONICOG ALFAApproved
von Willebrand factor exogenous protein
Von Willebrand disease
VON WILLEBRAND FACTOR HUMANApproved
von Willebrand factor exogenous protein
hemorrhage
Related Genes
ADAMTS13Protein interaction100%GP5Protein interaction100%ITGB1Protein interaction98%FGGProtein interaction97%LGALS3Protein interaction97%SPP1Protein interaction97%
Tissue Expression6 tissues
Heart
100%
Lung
67%
Brain
33%
Ovary
15%
Bone Marrow
2%
Liver
2%
Gene Interaction Network
Click a node to explore
VWFADAMTS13GP5ITGB1FGGLGALS3SPP1
PROTEIN STRUCTURE
Preparing viewer…
PDB5BV8 Β· 1.59 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.64LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.56 [0.50–0.64]
RankingsWhere VWF stands among ~20K protein-coding genes
  • #150of 20,598
    Most Researched1,033 Β· top 1%
  • #440of 1,025
    FDA-Approved Drug Targets3
  • #117of 5,498
    Most Pathogenic Variants454 Β· top 5%
  • #4,559of 17,882
    Most Constrained (LOEUF)0.64
Genes detectedVWF
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
Immunohistochemical expression of endothelial markers CD31, CD34, von Willebrand factor, and Fli-1 in normal human tissues.
PMID: 16234507
J Histochem Cytochem Β· 2006
1.00
2
von Willebrand factor and inflammation.
PMID: 28671350
J Thromb Haemost Β· 2017
0.90
3
Endothelial-derived von Willebrand factor accelerates fibrin clotting within engineered microvessels.
PMID: 35343037
J Thromb Haemost Β· 2022
0.88
4
Constitutive interaction between neutrophils and von Willebrand factor in peripheral blood.
PMID: 40640566
Sci Rep Β· 2025
0.84
5
Heterogeneity and reciprocity of FVIII and VWF expression, and the response to shear stress in cultured human endothelial cells.
PMID: 35950488
J Thromb Haemost Β· 2022
0.80