VWF (von Willebrand factor)

2007-02-01 Affiliation

Identity

HGNC

VWF

LOCATION

12p13.31

LOCUSID

7450

ALIAS

F8VWF,VWD

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 7450
MIM: 613160
HGNC: 12726
Ensembl: ENSG00000110799

Variants:

dbSNP: 7450
ClinVar: 7450
TCGA: ENSG00000110799
COSMIC: VWF

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000110799	ENST00000261405	P04275
ENSG00000110799	ENST00000321023	I3L4K4
ENSG00000110799	ENST00000538563	I3L4K4

Expression (GTEx)

100

150

200

250

300

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Focal adhesion	KEGG	ko04510
ECM-receptor interaction	KEGG	ko04512
Complement and coagulation cascades	KEGG	ko04610
Focal adhesion	KEGG	hsa04510
ECM-receptor interaction	KEGG	hsa04512
Complement and coagulation cascades	KEGG	hsa04610
PI3K-Akt signaling pathway	KEGG	hsa04151
PI3K-Akt signaling pathway	KEGG	ko04151
Platelet activation	KEGG	hsa04611
Disease	REACTOME	R-HSA-1643685
Diseases of signal transduction	REACTOME	R-HSA-5663202
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
DAP12 interactions	REACTOME	R-HSA-2172127
DAP12 signaling	REACTOME	R-HSA-2424491
RAF/MAP kinase cascade	REACTOME	R-HSA-5673001
MAP2K and MAPK activation	REACTOME	R-HSA-5674135
Fc epsilon receptor (FCERI) signaling	REACTOME	R-HSA-2454202
FCERI mediated MAPK activation	REACTOME	R-HSA-2871796
Cytokine Signaling in Immune system	REACTOME	R-HSA-1280215
Signaling by Interleukins	REACTOME	R-HSA-449147
Interleukin-2 signaling	REACTOME	R-HSA-451927
Interleukin receptor SHC signaling	REACTOME	R-HSA-912526
Interleukin-3, 5 and GM-CSF signaling	REACTOME	R-HSA-512988
Hemostasis	REACTOME	R-HSA-109582
Platelet Adhesion to exposed collagen	REACTOME	R-HSA-75892
Platelet activation, signaling and aggregation	REACTOME	R-HSA-76002
GP1b-IX-V activation signalling	REACTOME	R-HSA-430116
Platelet Aggregation (Plug Formation)	REACTOME	R-HSA-76009
Integrin alphaIIb beta3 signaling	REACTOME	R-HSA-354192
GRB2:SOS provides linkage to MAPK signaling for Integrins	REACTOME	R-HSA-354194
p130Cas linkage to MAPK signaling for integrins	REACTOME	R-HSA-372708
Response to elevated platelet cytosolic Ca2+	REACTOME	R-HSA-76005
Platelet degranulation	REACTOME	R-HSA-114608
Formation of Fibrin Clot (Clotting Cascade)	REACTOME	R-HSA-140877
Intrinsic Pathway of Fibrin Clot Formation	REACTOME	R-HSA-140837
Signal Transduction	REACTOME	R-HSA-162582
Signaling by EGFR	REACTOME	R-HSA-177929
GRB2 events in EGFR signaling	REACTOME	R-HSA-179812
SHC1 events in EGFR signaling	REACTOME	R-HSA-180336
Signaling by Insulin receptor	REACTOME	R-HSA-74752
Insulin receptor signalling cascade	REACTOME	R-HSA-74751
IRS-mediated signalling	REACTOME	R-HSA-112399
SOS-mediated signalling	REACTOME	R-HSA-112412
Signalling by NGF	REACTOME	R-HSA-166520
NGF signalling via TRKA from the plasma membrane	REACTOME	R-HSA-187037
Signalling to ERKs	REACTOME	R-HSA-187687
Signalling to RAS	REACTOME	R-HSA-167044
Signalling to p38 via RIT and RIN	REACTOME	R-HSA-187706
Prolonged ERK activation events	REACTOME	R-HSA-169893
Frs2-mediated activation	REACTOME	R-HSA-170968
ARMS-mediated activation	REACTOME	R-HSA-170984
Signaling by PDGF	REACTOME	R-HSA-186797
Downstream signal transduction	REACTOME	R-HSA-186763
Signaling by VEGF	REACTOME	R-HSA-194138
VEGFA-VEGFR2 Pathway	REACTOME	R-HSA-4420097
VEGFR2 mediated cell proliferation	REACTOME	R-HSA-5218921
Signaling by SCF-KIT	REACTOME	R-HSA-1433557
MAPK family signaling cascades	REACTOME	R-HSA-5683057
MAPK1/MAPK3 signaling	REACTOME	R-HSA-5684996
Signaling by GPCR	REACTOME	R-HSA-372790
Gastrin-CREB signalling pathway via PKC and MAPK	REACTOME	R-HSA-881907
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)	REACTOME	R-HSA-2404192
IGF1R signaling cascade	REACTOME	R-HSA-2428924
IRS-related events triggered by IGF1R	REACTOME	R-HSA-2428928
Signaling by Leptin	REACTOME	R-HSA-2586552
Developmental Biology	REACTOME	R-HSA-1266738
Axon guidance	REACTOME	R-HSA-422475
NCAM signaling for neurite out-growth	REACTOME	R-HSA-375165
RET signaling	REACTOME	R-HSA-8853659
Oncogenic MAPK signaling	REACTOME	R-HSA-6802957
Signaling by RAS mutants	REACTOME	R-HSA-6802949
Signaling by high-kinase activity BRAF mutants	REACTOME	R-HSA-6802948
Signaling by moderate kinase activity BRAF mutants	REACTOME	R-HSA-6802946
Paradoxical activation of RAF signaling by kinase inactive BRAF	REACTOME	R-HSA-6802955
Signaling by BRAF and RAF fusions	REACTOME	R-HSA-6802952

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
12183630	2002	Structures of glycoprotein Ibalpha and its complex with von Willebrand factor A1 domain.	159
19498171	2009	Mechanoenzymatic cleavage of the ultralarge vascular protein von Willebrand factor.	152
20231535	2010	Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium.	130
20231535	2010	Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium.	130
18725999	2008	Platelet glycoprotein Ibalpha forms catch bonds with human WT vWF but not with type 2B von Willebrand disease vWF.	129
18347221	2008	von Willebrand factor in cardiovascular disease: focus on acute coronary syndromes.	96
21048155	2011	Endothelial von Willebrand factor regulates angiogenesis.	96
16985174	2007	Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD).	91
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
20725043	2010	A mechanically stabilized receptor-ligand flex-bond important in the vasculature.	85

Citation

Dessen P

VWF (von Willebrand factor)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45529/vwf