Vwf Von Willebrand factor [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Vwfprovided by MGI
Official Full Name: Von Willebrand factorprovided by MGI
Primary source: MGI:MGI:98941
See related: Ensembl:ENSMUSG00000001930 AllianceGenome:MGI:98941
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: VWD; F8VWF; C630030D09; 6820430P06Rik; B130011O06Rik
Summary: Predicted to enable several functions, including identical protein binding activity; integrin binding activity; and protein-folding chaperone binding activity. Acts upstream of or within several processes, including activation of blood coagulation via clotting cascade; liver development; and platelet activation. Located in Weibel-Palade body; external side of plasma membrane; and extracellular space. Is expressed in several structures, including cardiovascular system; extraembryonic component; genitourinary system; immune system; and pancreas vasculature. Used to study von Willebrand's disease and von Willebrand's disease 2. 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). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in lung adult (RPKM 49.3), heart adult (RPKM 9.7) and 9 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 F3; 6 59.32 cM

Exon count:: 53

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (125529911..125663642)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (125552948..125686679)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Role of Platelets and von Willebrand Factor in the Procoagulant Phenotype of Inflammatory Bowel Disease.
Title: The Role of Platelets and von Willebrand Factor in the Procoagulant Phenotype of Inflammatory Bowel Disease.
Neutrophil NLRP3 promotes cardiac injury following acute myocardial infarction through IL-1beta production, VWF release and NET deposition in the myocardium.
Title: Neutrophil NLRP3 promotes cardiac injury following acute myocardial infarction through IL-1β production, VWF release and NET deposition in the myocardium.
Microvesicles from stored red blood cells induce P-selectin and von Willebrand factor release from endothelial cells via a protein kinase C-dependent mechanism.
Title: Microvesicles from stored red blood cells induce P-selectin and von Willebrand factor release from endothelial cells via a protein kinase C-dependent mechanism.
Impact of allele-selective silencing of von Willebrand factor in mice based on a single nucleotide allelic difference in von Willebrand factor.
Title: Impact of allele-selective silencing of von Willebrand factor in mice based on a single nucleotide allelic difference in von Willebrand factor.
Regulation of von Willebrand factor by ADAMTS13 ameliorates lipopolysaccharide-induced lung injury in mice.
Title: Regulation of von Willebrand factor by ADAMTS13 ameliorates lipopolysaccharide-induced lung injury in mice.
von Willebrand factor modulates immune complexes and the recall response against factor VIII in a murine hemophilia A model.
Title: von Willebrand factor modulates immune complexes and the recall response against factor VIII in a murine hemophilia A model.
von Willebrand Factor: A Central Regulator of Arteriovenous Fistula Maturation Through Smooth Muscle Cell Proliferation and Outward Remodeling.
Title: von Willebrand Factor: A Central Regulator of Arteriovenous Fistula Maturation Through Smooth Muscle Cell Proliferation and Outward Remodeling.
Dual Targeting of Angipoietin-1 and von Willebrand Factor by microRNA-671-5p Attenuates Liver Angiogenesis and Fibrosis.
Title: Dual Targeting of Angipoietin-1 and von Willebrand Factor by microRNA-671-5p Attenuates Liver Angiogenesis and Fibrosis.
Von Willebrand factor exerts hepatoprotective effects in acute but not chronic cholestatic liver injury in mice.
Title: Von Willebrand factor exerts hepatoprotective effects in acute but not chronic cholestatic liver injury in mice.
Involvement of von Willebrand factor and botrocetin in the thrombocytopenia induced by Bothrops jararaca snake venom.
Title: Involvement of von Willebrand factor and botrocetin in the thrombocytopenia induced by Bothrops jararaca snake venom.

Submit: New GeneRIF Correction See all GeneRIFs (125)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4) 1 citation
Targeted (14) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI551257 (e-PCR)
- UniSTS:179465

D6Mit334 (e-PCR), detects polymorphism
- UniSTS:130888

Vwf (e-PCR), detects polymorphism
- UniSTS:144762

Vwf (e-PCR), detects polymorphism
- UniSTS:144763

Vwf (e-PCR), detects polymorphism
- UniSTS:144764

Vwf (e-PCR), detects polymorphism
- UniSTS:525954

PMC26753P2 (e-PCR)
- UniSTS:272351

PMC15073P1 (e-PCR)
- UniSTS:271099

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables collagen binding	ISO Inferred from Sequence Orthology more info
enables collagen binding	ISS Inferred from Sequence or Structural Similarity more info
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables immunoglobulin binding	ISO Inferred from Sequence Orthology more info
enables immunoglobulin binding	ISS Inferred from Sequence or Structural Similarity more info
enables integrin binding	ISO Inferred from Sequence Orthology more info
enables integrin binding	ISS Inferred from Sequence or Structural Similarity more info
enables protease binding	ISO Inferred from Sequence Orthology more info
enables protease binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein-folding chaperone binding	ISO Inferred from Sequence Orthology more info
enables protein-folding chaperone binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within activation of blood coagulation via clotting cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in blood coagulation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within blood coagulation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in blood coagulation	ISO Inferred from Sequence Orthology more info
involved_in blood coagulation	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell adhesion	ISO Inferred from Sequence Orthology more info
involved_in cell adhesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell-substrate adhesion	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cell-substrate adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-substrate adhesion	ISO Inferred from Sequence Orthology more info
involved_in cell-substrate adhesion	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within hemostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hemostasis	ISO Inferred from Sequence Orthology more info
involved_in hemostasis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within hemostasis	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within inflammatory response	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within liver development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within placenta development	IMP Inferred from Mutant Phenotype more info	PubMed
NOT acts_upstream_of_or_within platelet activation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within platelet activation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in platelet activation	ISO Inferred from Sequence Orthology more info
involved_in platelet activation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of intracellular signal transduction	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Weibel-Palade body	IDA Inferred from Direct Assay more info	PubMed
located_in Weibel-Palade body	ISO Inferred from Sequence Orthology more info
located_in Weibel-Palade body	ISS Inferred from Sequence or Structural Similarity more info
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	ISO Inferred from Sequence Orthology more info
located_in collagen-containing extracellular matrix	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	ISO Inferred from Sequence Orthology more info
located_in extracellular region	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: von Willebrand factor

Names: Von Willebrand factor homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_011708.4 → NP_035838.3 von Willebrand factor precursor

See identical proteins and their annotated locations for NP_035838.3

Status: VALIDATED

Source sequence(s)

AC153580, AY208897, BF662502, BI133662

Consensus CDS

CCDS20552.1

UniProtKB/TrEMBL

E9QPU1, Q2I0J8

Related

ENSMUSP00000107873.3, ENSMUST00000112254.8

Conserved Domains (11) summary

smart00041
Location:2727 → 2808

CT; C-terminal cystine knot-like domain (CTCK)

smart00214
Location:2431 → 2494

VWC; von Willebrand factor (vWF) type C domain

smart00216
Location:377 → 540

VWD; von Willebrand factor (vWF) type D domain

smart00327
Location:1277 → 1449

VWA; von Willebrand factor (vWF) type A domain

smart00832
Location:1053 → 1127

C8; This domain contains 8 conserved cysteine residues

pfam00092
Location:1498 → 1658

VWA; von Willebrand factor type A domain

pfam00094
Location:35 → 179

VWD; von Willebrand factor type D domain

pfam01826
Location:295 → 348

TIL; Trypsin Inhibitor like cysteine rich domain

pfam08742
Location:580 → 648

C8; C8 domain

pfam16164
Location:1198 → 1276

VWA_N2; VWA N-terminal

cl17735
Location:2582 → 2644

VWC; von Willebrand factor type C domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000072.7 Reference GRCm39 C57BL/6J

Range

125529911..125663642

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006505918.5 → XP_006505981.1 von Willebrand factor isoform X1

UniProtKB/TrEMBL

Q2I0J8

Conserved Domains (12) summary

smart00041
Location:2663 → 2744

CT; C-terminal cystine knot-like domain (CTCK)

smart00214
Location:2367 → 2430

VWC; von Willebrand factor (vWF) type C domain

smart00216
Location:313 → 476

VWD; von Willebrand factor (vWF) type D domain

smart00327
Location:1213 → 1385

VWA; von Willebrand factor (vWF) type A domain

smart00832
Location:989 → 1063

C8; This domain contains 8 conserved cysteine residues

cl17735
Location:2518 → 2580

VWC; von Willebrand factor type C domain

pfam00092
Location:1434 → 1594

VWA; von Willebrand factor type A domain

pfam00094
Location:803 → 947

VWD; von Willebrand factor type D domain

pfam01826
Location:231 → 284

TIL; Trypsin Inhibitor like cysteine rich domain

pfam08742
Location:520 → 584

C8; C8 domain

pfam16164
Location:1134 → 1212

VWA_N2; VWA N-terminal

cl02516
Location:19 → 113

VWD; von Willebrand factor type D domain