VANGL2 VANGL planar cell polarity protein 2 [Homo sapiens (human)] - Gene

Summary

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Official Symbol: VANGL2provided by HGNC
Official Full Name: VANGL planar cell polarity protein 2provided by HGNC
Primary source: HGNC:15511
See related: Ensembl:ENSG00000162738; HPRD:02758; MIM:600533; Vega:OTTHUMG00000033122
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LPP1; LTAP; STB1; STBM; STBM1
Summary: The protein encoded by this gene is a membrane protein involved in the regulation of planar cell polarity, especially in the stereociliary bundles of the cochlea. The encoded protein transmits directional signals to individual cells or groups of cells in epithelial sheets. This protein is also involved in the development of the neural plate. [provided by RefSeq, Sep 2011]

Genomic context

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Location :: 1q22-q23

Sequence :: Chromosome: 1; NC_000001.10 (160370364..160398468)

See VANGL2 in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

these findings strongly implicate VANGL2 in the genetic causation of spinal NTDs in a subset of patients and provide additional evidence for a pathogenic role of PCP signaling in these malformations.
Title: Contribution of VANGL2 mutations to isolated neural tube defects.
Loss of membrane targeting of Vangl1 and Vangl2 proteins causes neural tube defects.
Title: Loss of membrane targeting of Vangl proteins causes neural tube defects.
The planar cell polarity genes Celsr1 and Vangl2 are required for normal lung branching morphogenesis.
Title: The PCP genes Celsr1 and Vangl2 are required for normal lung branching morphogenesis.
Observational study of gene-disease association. (HuGE Navigator)
Title: VANGL2 mutations in human cranial neural-tube defects.
identified 3 novel missense mutations in fetuses with neural-tube defects
Title: VANGL2 mutations in human cranial neural-tube defects.
Van Gogh-Like 2 regulates tumor cell migration and matrix metalloproteinase-dependent invasion.
Title: The planar cell polarity protein Van Gogh-Like 2 regulates tumor cell migration and matrix metalloproteinase-dependent invasion.
Results suggest that there is no specific mutation responsible for the Tetralogy of Fallot phenotype in the Vangl2 gene [Vangl2].
Title: Mutation analysis of the Vangl2 coding region revealed no common cause for Tetralogy of Fallot.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

NHGRI GWAS Catalog

A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
Q9ULK5	O14640	DVL1	HPRD	PubMed
Q9ULK5	MAGI-3	MAGI3	HPRD	PubMed
BioGRID:121454	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Pathways from BioSystems

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Wnt Signaling Pathway NetPath, organism-specific biosystem (from WikiPathways)
Wnt Signaling Pathway NetPath, organism-specific biosystemWnt family of proteins are a large family of cysteine-rich secreted glycoproteins that regulate cell-cell interactions. They bind to members of the Frizzled family of 7 transmembrane receptors. Bindi...
Wnt signaling pathway, organism-specific biosystem (from KEGG)
Wnt signaling pathway, organism-specific biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...
Wnt signaling pathway, conserved biosystem (from KEGG)
Wnt signaling pathway, conserved biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...

General gene information

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Markers

RH92930 (e-PCR)
- UniSTS:88648

AL009375 (e-PCR)
- UniSTS:54485

Genotypes

See VANGL2 SNP Geneview Report
See VANGL2 SNP Genotype Report
See VANGL2 SNP Variation Viewer Report

Homology

Homologs of the VANGL2 gene: The VANGL2 gene is conserved in Rhesus monkey, cow, mouse, rat, chicken, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
Rho protein signal transduction	IEA Inferred from Electronic Annotation more info
anterior/posterior pattern specification	IEA Inferred from Electronic Annotation more info
apical protein localization	ISS Inferred from Sequence or Structural Similarity more info
cell migration involved in kidney development	ISS Inferred from Sequence or Structural Similarity more info
cochlea morphogenesis	IEA Inferred from Electronic Annotation more info
convergent extension involved in axis elongation	IEA Inferred from Electronic Annotation more info
convergent extension involved in neural plate elongation	IEA Inferred from Electronic Annotation more info
digestive tract morphogenesis	IEA Inferred from Electronic Annotation more info
establishment of body hair planar orientation	IEA Inferred from Electronic Annotation more info
establishment of planar polarity	ISS Inferred from Sequence or Structural Similarity more info
establishment of planar polarity involved in neural tube closure	IEA Inferred from Electronic Annotation more info
establishment or maintenance of epithelial cell apical/basal polarity	IEA Inferred from Electronic Annotation more info
hair follicle development	IEA Inferred from Electronic Annotation more info
heart looping	ISS Inferred from Sequence or Structural Similarity more info
inner ear receptor stereocilium organization	IEA Inferred from Electronic Annotation more info
lateral sprouting involved in lung morphogenesis	IEA Inferred from Electronic Annotation more info
membranous septum morphogenesis	IEA Inferred from Electronic Annotation more info
muscular septum morphogenesis	IEA Inferred from Electronic Annotation more info
neural tube closure	ISS Inferred from Sequence or Structural Similarity more info
nonmotile primary cilium assembly	ISS Inferred from Sequence or Structural Similarity more info
orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis	IEA Inferred from Electronic Annotation more info
planar cell polarity pathway involved in axis elongation	IEA Inferred from Electronic Annotation more info
planar cell polarity pathway involved in neural tube closure	IEA Inferred from Electronic Annotation more info
planar dichotomous subdivision of terminal units involved in lung branching morphogenesis	IEA Inferred from Electronic Annotation more info
positive regulation of JUN kinase activity	IEA Inferred from Electronic Annotation more info
regulation of actin cytoskeleton organization	IEA Inferred from Electronic Annotation more info
somatic stem cell division	IEA Inferred from Electronic Annotation more info
somatic stem cell maintenance	IEA Inferred from Electronic Annotation more info
wound healing	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
basolateral plasma membrane	IEA Inferred from Electronic Annotation more info
cell pole	IEA Inferred from Electronic Annotation more info
cell-cell junction	ISS Inferred from Sequence or Structural Similarity more info
integral to membrane	IEA Inferred from Electronic Annotation more info
lateral plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: vang-like protein 2

Names: vang-like protein 2; strabismus 1; van Gogh-like protein 2; loop-tail protein 1 homolog; loop-tail-associated protein; vang-like 2 (van gogh, Drosophila)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_023420.1 RefSeqGene

Range

5001..33105

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_020335.2 → NP_065068.1 vang-like protein 2

Status: REVIEWED

Source sequence(s)

AB033041, AK290981, AL445230, BG059541

Consensus CDS

CCDS30915.1

UniProtKB/TrEMBL

A8K4L6

UniProtKB/Swiss-Prot

Q9ULK5

Related

ENSP00000357040, OTTHUMP00000031861, ENST00000368061, OTTHUMT00000080677

Conserved Domains (1) summary

pfam06638
Location:44 – 521
Blast Score: 1696

Strabismus; Strabismus protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p10 Primary Assembly

Range

160370364..160398468

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

131726520..131754628

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018912.1 Alternate CHM1_1.0

Range

166866368..166894475

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01016612.1 (261804..289912)	None
genomic	AL445230.11 (61582..89686)	None
genomic	AMYH01001453.1 (24..28131)	None
genomic	CH471121.2	EAW52717.1
		EAW52718.1
mRNA	AB033041.1	BAA86529.1
mRNA	AK290981.1	BAF83670.1
mRNA	AL137558.1	None
mRNA	BC103920.2	None
mRNA	BG059541.1	None
mRNA	BU162175.1	None
mRNA	BX420618.2	None
other-genetic	BC166628.1	AAI66628.1