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Vwf Gene Detail
Summary
  • Symbol
    Vwf
  • Name
    Von Willebrand factor
  • Synonyms
    6820430P06Rik, B130011O06Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:98941
    NCBI Gene: 22371
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:125529911-125663642 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 59.32 cM
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    4128 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    4
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98941
 protein coding gene Chr6:125523737-125663642 (+)
129S1/SvImJ MGP_129S1SvImJ_G0031299
 protein coding gene Chr6:128919883-129068589 (+)
A/J MGP_AJ_G0031270
 protein coding gene Chr6:124038406-124181659 (+)
AKR/J MGP_AKRJ_G0031198
 protein coding gene Chr6:127428029-127579917 (+)
BALB/cJ MGP_BALBcJ_G0031277
 protein coding gene Chr6:123625724-123768381 (+)
C3H/HeJ MGP_C3HHeJ_G0031001
 protein coding gene Chr6:127511531-127668289 (+)
C57BL/6NJ MGP_C57BL6NJ_G0031734
 protein coding gene Chr6:132319499-132465263 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028882
 protein coding gene Chr6:121256828-121394778 (+)
CAST/EiJ MGP_CASTEiJ_G0030382
 protein coding gene Chr6:127716580-127863435 (+)
CBA/J MGP_CBAJ_G0030962
 protein coding gene Chr6:137390109-137553215 (+)
DBA/2J MGP_DBA2J_G0031118
 protein coding gene Chr6:122957799-123097844 (+)
FVB/NJ MGP_FVBNJ_G0031067
 protein coding gene Chr6:121875701-122016871 (+)
LP/J MGP_LPJ_G0031198
 protein coding gene Chr6:129063939-129211686 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0031106
 protein coding gene Chr6:141404224-141550498 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031769
 protein coding gene Chr6:127346780-127499277 (+)
PWK/PhJ MGP_PWKPhJ_G0030097
 protein coding gene Chr6:121206266-121351970 (+)
SPRET/EiJ MGP_SPRETEiJ_G0029926
 protein coding gene Chr6:125417677-125559963 (+)
WSB/EiJ MGP_WSBEiJ_G0030467
 protein coding gene Chr6:127711026-127851947 (+)



Homology
more
  • Human Ortholog
    VWF, von Willebrand factor
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    VWF, von Willebrand factor
  • Synonyms
    F8VWF, VWD
  • Links
    NCBI Gene ID: 7450
    neXtProt AC: NX_P04275
    UniProt: P04275

  • Chr Location
    12p13.31; chr12:5948877-6124770 (-)  GRCh38
  • MGI Vertebrate Homology
    Vwf stringent orthology
    1 human;1 mouse;1 rat;1 zebrafish
  • HCOP
    vertebrate homology predictions: VWF
  • Protein SuperFamily
    VWF
  • Gene Tree
    Vwf
Human Diseases
more
  • Diseases
    2 with Vwf mouse models; 10 with human VWF associations

Human Disease Mouse Models
      
IDs
 View 2 models
IDs
 View 2 models
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    22 phenotypes from 5 alleles in 6 genetic backgrounds
    12 phenotypes from multigenic genotypes
    2 images
    113 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    55
  • GO References
    18
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    959
  • Tissues
    117
  • cDNA Data
    38
  • Literature Summary
    125
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 22371 NCBI Gene Model | MGI Sequence Detail 133732 C57BL/6J ±  kb
    transcript NM_011708 RefSeq | MGI Sequence Detail 8834 ZRU/MplStud  
    polypeptide Q8CIZ8 UniProt | EBI | MGI Sequence Detail 2813 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      9 Sequences
    • Protein Ontology
      PR:000017364 von Willebrand factor
      (term hierarchy)
    • PDB
      1U0O
    • InterPro Domains
      IPR006207 Cystine knot, C-terminal
      IPR029034 Cystine-knot cytokine
      IPR006208 Glycoprotein hormone subunit beta
      IPR050780 Mucin/von Willebrand/Thrombospondin superfamily
      IPR036084 Serine protease inhibitor-like superfamily
      IPR002919 Trypsin Inhibitor-like, cysteine rich domain
      IPR037578 Von Willebrand factor
      IPR036465 von Willebrand factor A-like domain superfamily
      IPR002035 von Willebrand factor, type A
      IPR001846 von Willebrand factor, type D domain
      IPR032361 von Willebrand factor, VWA N-terminal domain
      IPR001007 VWFC domain
      IPR014853 VWF/SSPO/Zonadhesin-like, cysteine-rich domain
    • GlyGen
      Q8CIZ8 25 sites, 4 N-linked glycans (4 sites), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 61
      Genomic 12
      cDNA 39
      Primer pair 9
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-15419, MGI:2141444, MGI:2443130
    References
    more
    • Summaries
      All 315
      Developmental Gene Expression 125
      Diseases 2
      Gene Ontology 18
      Phenotypes 113
    • 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:345473 Lee JG, et al., PIBF1 regulates trophoblast syncytialization and promotes cardiovascular development. Nat Commun. 2024 Feb 19;15(1):1487
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory