Vangl1 MGI Mouse Gene Detail - MGI:2159344 - VANGL planar cell polarity 1

Vangl1 Gene Detail

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

Sequence Map

Chr3:102153583-102204693 bp, - strand
From VEGA annotation of GRCm38

Mouse Genome Browser
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Sequence

51111 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 3, 44.30 cM
Mapping Data

2 experiments

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

HGNC:15512

NCBI Gene ID: 81839

neXtProt AC: NX_Q8TAA9

UniProt: Q8TAA9
Chr Location

1p13.1; chr1:115641953-115698224 (+) GRCh38.p7

HomoloGene

Vertebrate Homology Class 44540
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish
HCOP

human homology predictions: VANGL1
Protein SuperFamily

Vang-like protein
Gene Tree

Vangl1

Diseases

1 with human VANGL1 associations

Human Disease

Mouse Models

neural tube defect

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

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Phenotype Summary

6 phenotypes from 3 alleles in 3 genetic backgrounds
24 phenotypes from multigenic genotypes
4 images
24 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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.

All Mutations and Alleles

89
Chemically induced (other)

1
Gene trapped

81
Radiation induced

1
Targeted

6
Genomic Mutations

2 involving Vangl1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

76 strains or lines available

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.

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All GO Annotations

8
GO References

6

External Resources

FuncBase

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.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

38
Literature Summary

20

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

ZFIN vangl1

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Vangl1 interacts with 249 markers (Mir1a-1, Mir1a-2, Mir1b, ...) View All

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All Sequences

51
RefSeq

6
UniProt

6
CCDS

CCDS17686.1, CCDS51024.1
UniGene

118004

			Length	Strain/Species	Flank
genomic	OTTMUSG00000031053	VEGA Gene Model \| MGI Sequence Detail	51111	C57BL/6J	± kb
transcript	OTTMUST00000076931	VEGA \| MGI Sequence Detail	6531	Not Applicable
polypeptide	OTTMUSP00000040562	VEGA \| MGI Sequence Detail	526	Not Applicable

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SNPs within 2kb

356 from dbSNP Build 142

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UniProt

6 Sequences
Protein Ontology

PR:000017255 Vang-like protein 1

(term hierarchy)
InterPro Domains

IPR009539 Vang-like protein

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All nucleic 40

cDNA 38

Primer pair 2

Microarray probesets 3

Summaries

All 69

Developmental Gene Expression 20

Diseases 2

Gene Ontology 6

Phenotypes 24
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:240403 Duncan JS, et al., Celsr1 coordinates the planar polarity of vestibular hair cells during inner ear development. Dev Biol. 2017 Mar 15;423(2):126-137

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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