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Vwf
Gene Detail
Symbol

Name
ID
Vwf
Von Willebrand factor homolog
MGI:98941
Synonyms
6820430P06Rik, B130011O06Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 6
59.32 cM
Detailed Genetic Map ± 1 cM


Mapping data(8)
Sequence Map
Chr6:125546774-125686679 bp, + strand
From VEGA annotation of GRCm38

  139906 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:466  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: VWF
Protein SuperFamily: von Willebrand factor
Gene Tree: Vwf

Human
homologs
VWF, von Willebrand factor
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 7450
neXtProt AC: NX_P04275

Human Synonyms: F8VWF, VWD

Human Chr (Location): 12p13.3; chr12:5948874-6124670 (-)  GRCh38.p2

Disease Associations: (3) Diseases Associated with Human VWF

Mutations,
alleles, and
phenotypes
All mutations/alleles(39) : Gene trapped(28) Targeted(11)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygous null mutants exhibit hemostatic and thrombotic defects similar to human von Willebrand disease. Mutants have prolonged bleeding time, newborns occasionally show fatal intra-abdominal bleeding and some adults have detectable fecal occult blood.
 
Human Diseases Modeled in Mice Using Vwf (1)    Mutations Annotated to Human Diseases (1)    Phenotype Images(2)
Interactions
Vwf interacts with 116 markers (Mir28b, Mir29b-1, Mir134, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (33 annotations)
Process blood coagulation, cell adhesion, ...
Component endoplasmic reticulum, external side of plasma membrane, ...
Function chaperone binding, collagen binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (87 records)
Data Summary: Results (121)    Tissues (52)    Images (48)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 37
RNA in situ 73
RT-PCR 11
cDNA source data(35)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase vwf ; ZFIN vwf    NEW 
Molecular
reagents
All nucleic(52) Genomic(12) cDNA(35) Primer pair(5)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000022190 (Evidence)
Ensembl Gene Model ENSMUSG00000001930 (Evidence)
Entrez Gene 22371 (Evidence)
UniGene 22339
DoTS DT.101257242, DT.101282326, DT.101347465, DT.101707069, DT.527845, DT.91430003, DT.91435531, DT.91442105, DT.94177313
NIA Mouse Gene Index U007424
PDB 1U0O
Consensus CDS Project CCDS20552.1
International Mouse Phenotyping Consortium Status Vwf
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000022190 VEGA Gene Model | MGI Sequence Detail 139906 C57BL/6J ±  kb
transcript OTTMUST00000052714 VEGA | MGI Sequence Detail 8834 Not Applicable 
polypeptide OTTMUSP00000025031 VEGA | MGI Sequence Detail 2816 Not Applicable 

For the selected sequences
All sequences(86) RefSeq(6) UniProt(9)
Polymorphisms
PCR(4) : SNPs within 2kb(823 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006208 Cystine knot
InterPro IPR006207 Cystine knot, C-terminal
InterPro IPR002919 Trypsin Inhibitor-like, cysteine rich domain
InterPro IPR014853 Uncharacterised domain, cysteine-rich
InterPro IPR012011 von Willebrand factor
InterPro IPR002035 von Willebrand factor, type A
InterPro IPR001007 von Willebrand factor, type C
InterPro IPR001846 von Willebrand factor, type D domain
Protein Ontology PR:000017364 von Willebrand factor
References
(Earliest) J:35223 Coffin JD, et al., Angioblast differentiation and morphogenesis of the vascular endothelium in the mouse embryo. Dev Biol. 1991 Nov;148(1):51-62
(Latest) J:222931 Bauer AT, et al., von Willebrand factor fibers promote cancer-associated platelet aggregation in malignant melanoma of mice and humans. Blood. 2015 May 14;125(20):3153-63
All references(197)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-15419, MGI:2141444, MGI:2443130

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory