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Vangl1 Gene Detail
Summary
  • Symbol
    Vangl1
  • Name
    vang-like 1 (van gogh, Drosophila)
  • Synonyms
    KITENIN, Lpp2, mStbm, stbm
  • Feature Type
    protein coding gene
  • IDs
    MGI:2159344
    NCBI Gene: 229658
Location & Maps
more
  • Sequence Map
    Chr3:102153583-102204693 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      51111 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 44.30 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    VANGL1, VANGL planar cell polarity protein 1
  • Vertebrate Orthologs
    8
  • Human Ortholog
    VANGL1, VANGL planar cell polarity protein 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    KITENIN, LPP2, STB2, STBM2
  • Links
    NCBI Gene ID: 81839
    neXtProt AC: NX_Q8TAA9

  • Chr Location
    1p13.1; chr1:115641953-115698224 (+)  GRCh38.p2
Human Diseases
more
  • Diseases
    1 with Vangl1 mouse models; 2 with human VANGL1 associations

Human Disease Mouse Models
       Neural Tube Defects, Susceptibility To; NTD   OMIM: 182940 View 1 model
       Sacral Defect with Anterior Meningocele   OMIM: 600145
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    6 phenotypes from 3 alleles in 3 genetic backgrounds
    24 phenotypes from multigenic genotypes
    4 images
    20 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.
  • All Mutations and Alleles
    88
  • Chemically induced (other)
    1
  • Gene trapped
    81
  • Radiation induced
    1
  • Targeted
    5
  • Genomic Mutations
    2 involving Vangl1
  • Incidental Mutations
    Mutagenetix , APF , CvDC
Mice homozygous for a gene trapped allele display abnormal orientation of cochlear hair cell stereociliary bundles but do not develop neural tube or cardiac outflow tract abnormalities.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    7
  • GO References
    5
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
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
    94
  • Tissues
    63
  • cDNA Data
    38
  • Literature Summary
    19
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000031053 VEGA Gene Model | MGI Sequence Detail 51111 C57BL/6J ±  kb
transcript OTTMUST00000076931 VEGA | MGI Sequence Detail 6531 Not Applicable  
polypeptide OTTMUSP00000040562 VEGA | MGI Sequence Detail 526 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    356 from dbSNP Build 142
Protein
Information
less
  • UniProt
    7 Sequences
  • Protein Ontology
    PR:000017255 Vang-like protein 1
  • InterPro Domains
    IPR009539 Vang-like protein
Molecular
Reagents
less
  • All nucleic 40
    cDNA 38
    Primer pair 2

    Microarray probesets 3
References
more
  • Summaries
    All 62
    Developmental Gene Expression 19
    Diseases 1
    Gene Ontology 5
    Phenotypes 20
  • Earliest
    J:70272 Kibar Z, et al., Ltap, a mammalian homolog of Drosophila Strabismus/Van Gogh, is altered in the mouse neural tube mutant Loop-tail. Nat Genet. 2001 Jul;28(3):251-5
  • Latest
    J:228792 Chang H, et al., The spatio-temporal domains of Frizzled6 action in planar polarity control of hair follicle orientation. Dev Biol. 2016 Jan 1;409(1):181-93
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
09/13/2016
MGI 6.05 		The Jackson Laboratory