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Vangl1 Gene Detail
Summary
  • Symbol
    Vangl1
  • Name
    VANGL planar cell polarity 1
  • Synonyms
    KITENIN, Lpp2, mStbm, stbm
  • Feature Type
    protein coding gene
  • IDs
    MGI:2159344
    NCBI Gene: 229658
  • Alliance
    gene page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:102060899-102112009 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 44.30 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1457 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2159344
 protein coding gene Chr3:102060899-102112012 (-)
129S1/SvImJ MGP_129S1SvImJ_G0027681
 protein coding gene Chr3:103379123-103433709 (-)
A/J MGP_AJ_G0027640
 protein coding gene Chr3:100086341-100132933 (-)
AKR/J MGP_AKRJ_G0027606
 protein coding gene Chr3:102572561-102618164 (-)
BALB/cJ MGP_BALBcJ_G0027653
 protein coding gene Chr3:99848839-99896565 (-)
C3H/HeJ MGP_C3HHeJ_G0027382
 protein coding gene Chr3:102854465-102911418 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028096
 protein coding gene Chr3:107183572-107234234 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0025437
 protein coding gene Chr3:96270753-96323877 (-)
CAST/EiJ MGP_CASTEiJ_G0026838
 protein coding gene Chr3:101976147-102031945 (-)
CBA/J MGP_CBAJ_G0027357
 protein coding gene Chr3:110868128-110921496 (-)
DBA/2J MGP_DBA2J_G0027500
 protein coding gene Chr3:99331863-99378986 (-)
FVB/NJ MGP_FVBNJ_G0027468
 protein coding gene Chr3:97270774-97316671 (-)
LP/J MGP_LPJ_G0027607
 protein coding gene Chr3:104723465-104779330 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0027498
 protein coding gene Chr3:117003591-117052807 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028151
 protein coding gene Chr3:102065353-102123182 (-)
PWK/PhJ MGP_PWKPhJ_G0026565
 protein coding gene Chr3:99092204-99143687 (-)
SPRET/EiJ MGP_SPRETEiJ_G0026387
 protein coding gene Chr3:100151331-100203132 (-)
WSB/EiJ MGP_WSBEiJ_G0026918
 protein coding gene Chr3:102619185-102673188 (-)



Homology
more
  • Human Ortholog
    VANGL1, VANGL planar cell polarity protein 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    VANGL1, VANGL planar cell polarity protein 1
  • Synonyms
    KITENIN, LPP2, STB2, STBM2
  • Links
    NCBI Gene ID: 81839
    neXtProt AC: NX_Q8TAA9
    UniProt: Q8TAA9

  • Chr Location
    1p13.1; chr1:115641970-115698224 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with human VANGL1 associations

Human Disease Mouse Models
      
IDs
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    10 phenotypes from 3 alleles in 3 genetic backgrounds
    24 phenotypes from multigenic genotypes
    4 images
    41 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.
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
less
  • All GO Annotations
    13
  • GO References
    7
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
    826
  • Tissues
    68
  • cDNA Data
    39
  • Literature Summary
    38
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000027860 Ensembl Gene Model | MGI Sequence Detail 51111 C57BL/6J ±  kb
    transcript ENSMUST00000029453 Ensembl | MGI Sequence Detail 6531 Not Applicable  
    polypeptide ENSMUSP00000029453 Ensembl | MGI Sequence Detail 526 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 43
      cDNA 39
      Primer pair 3
      Other 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 105
      Developmental Gene Expression 38
      Diseases 2
      Gene Ontology 7
      Phenotypes 41
    • 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: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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory