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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
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:172000960-172027314 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 79.54 cM
  • Mapping Data
    32 experiments
Strain
Comparison
more
  • SNPs within 2kb
    190 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2135272
protein coding gene Chr1:172000960-172028444 (-)
129S1/SvImJ MGP_129S1SvImJ_G0016774
protein coding gene Chr1:177843801-177872610 (-)
A/J MGP_AJ_G0016753
protein coding gene Chr1:170567219-170595071 (-)
AKR/J MGP_AKRJ_G0016719
protein coding gene Chr1:175722382-175749590 (-)
BALB/cJ MGP_BALBcJ_G0016714
protein coding gene Chr1:171114802-171143042 (-)
C3H/HeJ MGP_C3HHeJ_G0016538
protein coding gene Chr1:176298531-176325862 (-)
C57BL/6NJ MGP_C57BL6NJ_G0017176
protein coding gene Chr1:183748070-183776359 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014882
protein coding gene Chr1:162268373-162296091 (-)
CAST/EiJ MGP_CASTEiJ_G0016118
protein coding gene Chr1:175646203-175680978 (-)
CBA/J MGP_CBAJ_G0016512
protein coding gene Chr1:190279170-190309026 (-)
DBA/2J MGP_DBA2J_G0016619
protein coding gene Chr1:169507313-169534578 (-)
FVB/NJ MGP_FVBNJ_G0016616
protein coding gene Chr1:167762093-167789017 (-)
LP/J MGP_LPJ_G0016690
protein coding gene Chr1:178925670-178955289 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0016643
protein coding gene Chr1:197551604-197579921 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0017212
protein coding gene Chr1:175586524-175615996 (-)
PWK/PhJ MGP_PWKPhJ_G0015904
protein coding gene Chr1:168876264-168904035 (-)
SPRET/EiJ MGP_SPRETEiJ_G0015686
protein coding gene Chr1:174509251-174536697 (-)
WSB/EiJ MGP_WSBEiJ_G0016180
protein coding gene Chr1:175743450-175772206 (-)



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
    150 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 93840 NCBI Gene Model | MGI Sequence Detail 26355 C57BL/6J ±  kb
    transcript NM_033509 RefSeq | MGI Sequence Detail 5714 Not Specified  
    polypeptide Q91ZD4 UniProt | EBI | MGI Sequence Detail 521 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • InterPro Domains
      IPR009539 Vang-like protein
    Molecular
    Reagents
    less
    • All nucleic 18
      Genomic 2
      cDNA 9
      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 244
      Developmental Gene Expression 94
      Diseases 3
      Gene Ontology 47
      Phenotypes 150
    • 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:264113 Lopez-Escobar B, et al., The non-canonical Wnt-PCP pathway shapes the mouse caudal neural plate. Development. 2018 May 8;145(9)

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory