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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
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:171828527-171856011 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 79.54 cM
  • Mapping Data
    32 experiments
Strain
Comparison
more
  • SNPs within 2kb
    629 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 Chr1:171828527-171856532 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    VANGL2, VANGL planar cell polarity protein 2
  • Synonyms
    LPP1, LTAP, STB1, STBM, STBM1
  • Links
    NCBI Gene ID: 57216
    neXtProt AC: NX_Q9ULK5
    UniProt: Q9ULK5

  • Chr Location
    1q23.2; chr1:160400564-160428670 (+)  GRCh38
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
less
  • Phenotype Summary
    155 phenotypes from 11 alleles in 29 genetic backgrounds
    84 phenotypes from multigenic genotypes
    7 images
    206 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
less
  • All GO Annotations
    114
  • GO References
    46
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
    1157
  • Tissues
    230
  • cDNA Data
    7
  • Literature Summary
    150
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000026556 Ensembl Gene Model | MGI Sequence Detail 27485 C57BL/6J ±  kb
    transcript ENSMUST00000247845 Ensembl | MGI Sequence Detail 5698 Not Applicable  
    polypeptide ENSMUSP00000159531 Ensembl | MGI Sequence Detail 569 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 27
      Genomic 2
      cDNA 10
      Primer pair 10
      Other 5

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-11867, MGI:1924856, MGI:3038451, MGI:4460159, MGI:96818
    References
    more
    • Summaries
      All 331
      Developmental Gene Expression 150
      Diseases 3
      Gene Ontology 46
      Phenotypes 206
    • 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(12):329-334
    • Latest
      J:357898 Feng X, et al., Core planar cell polarity genes VANGL1 and VANGL2 in predisposition to congenital vertebral malformations. Proc Natl Acad Sci U S A. 2024 Apr 30;121(18):e2310283121
    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