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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
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:102153583-102204693 bp, - strand
  • From Ensembl annotation of GRCm38

    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
    356 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 Chr3:102153583-102205017 (-)
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
    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
    UniProt: Q8TAA9

  • Chr Location
    1p13.1; chr1:115641953-115698224 (+)  GRCh38.p7
Human Diseases
more
  • Diseases
    1 with human VANGL1 associations

Human Disease Mouse Models
      
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
    7 phenotypes from 3 alleles in 3 genetic backgrounds
    24 phenotypes from multigenic genotypes
    4 images
    28 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.
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
    8
  • GO References
    6
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 population 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
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
    39
  • Literature Summary
    21
Interactions
less
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 41
    cDNA 39
    Primer pair 2

    Microarray probesets 3
References
more
  • Summaries
    All 74
    Developmental Gene Expression 21
    Diseases 2
    Gene Ontology 6
    Phenotypes 28
  • 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:266389 Yin W, et al., The potassium channel KCNJ13 is essential for smooth muscle cytoskeletal organization during mouse tracheal tubulogenesis. Nat Commun. 2018 Jul 19;9(1):2815
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
01/08/2019
MGI 6.13 		The Jackson Laboratory