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Vangl2 Gene Detail
Summary
  • Symbol
    Vangl2
  • Name
    VANGL planar cell polarity 2
  • Synonyms
    C530001F03Rik, loop-tail, Lootl, Lpp1, Ltap, mKIAA1215, ska17, skam17Jus, strabismus
  • Feature Type
    protein coding gene
  • IDs
    MGI:2135272
    NCBI Gene: 93840
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr1:172000960-172028444 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      27485 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 79.54 cM
  • Mapping Data
    32 experiments
Homology
more
  • Human Ortholog
    VANGL2, VANGL planar cell polarity protein 2
  • Vertebrate Orthologs
    9
  • Human Ortholog
    VANGL2, VANGL planar cell polarity protein 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    LPP1, LTAP, STB1, STBM, STBM1
  • Links
    NCBI Gene ID: 57216
    neXtProt AC: NX_Q9ULK5
    UniProt: Q9ULK5

  • Chr Location
    1q23.2; chr1:160400574-160428678 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Vangl2 mouse models; 1 with human VANGL2 associations

Human Disease Mouse Models
      
IDs
View 4 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    142 phenotypes from 10 alleles in 28 genetic backgrounds
    82 phenotypes from multigenic genotypes
    7 images
    144 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 animals do not survive past birth. Developmental defects are seen in the nervous, cardiovascular, skeletal, vestibular, and respiratory systems. Kinked or looped tails are noted in heterozygotes with partial penetrance, along with a head wobble and some nervous system deficits.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000021582 VEGA Gene Model | MGI Sequence Detail 27485 C57BL/6J ±  kb
    transcript OTTMUST00000051231 VEGA | MGI Sequence Detail 2349 Not Applicable  
    polypeptide OTTMUSP00000024061 VEGA | MGI Sequence Detail 561 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      195 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • InterPro Domains
      IPR009539 Vang-like protein
    Molecular
    Reagents
    less
    • All nucleic 17
      Genomic 2
      cDNA 8
      Primer pair 5
      Other 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-11867, MGI:1924856, MGI:3038451, MGI:4460159, MGI:96818
    References
    more
    • Summaries
      All 236
      Developmental Gene Expression 88
      Diseases 3
      Gene Ontology 47
      Phenotypes 144
    • Earliest
      J:13059 Strong LC, et al., Hereditary loop-tail in the house mouse accompanied by imperforate vagina and craniorachischisis when homozygous. J Hered. 1949;40:329-334
    • Latest
      J:261565 Stoller ML, et al., Domineering non-autonomy in Vangl1;Vangl2 double mutants demonstrates intercellular PCP signaling in the vertebrate inner ear. Dev Biol. 2018 May 1;437(1):17-26

    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
    06/12/2018
    MGI 6.12
    The Jackson Laboratory