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

Summary

Official Symbol: VANGL2provided by HGNC
Official Full Name: VANGL planar cell polarity protein 2provided by HGNC
Primary source: HGNC:HGNC:15511
See related: Ensembl:ENSG00000162738 MIM:600533; AllianceGenome:HGNC:15511
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]
Expression: Broad expression in skin (RPKM 17.0), brain (RPKM 6.7) and 20 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 1q23.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (160400564..160428670)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (159537640..159565747)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (160370354..160398460)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.
Title: Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.
Vangl2 promotes the formation of long cytonemes to enable distant Wnt/beta-catenin signaling.
Title: Vangl2 promotes the formation of long cytonemes to enable distant Wnt/β-catenin signaling.
integrin alphav regulates VANGL2 protein levels
Title: VANGL2 protein stability is regulated by integrin αv and the extracellular matrix.
Vangl2 modulates glomerular injury, at least in part by acting as a brake on MMP9, a potentially harmful endogenous enzyme.
Title: Vangl2, a planar cell polarity molecule, is implicated in irreversible and reversible kidney glomerular injury.
Expression of constitutively active and dominant-negative isoforms of RHOA revealed that it acts downstream of VANGL2.
Title: Vangl2/RhoA Signaling Pathway Regulates Stem Cell Self-Renewal Programs and Growth in Rhabdomyosarcoma.
VANGL2 interacts with Integrin alphaVbeta3 to regulate matrix metalloproteinase activity and cell adhesion to the extracellular matrix.
Title: VANGL2 interacts with integrin αv to regulate matrix metalloproteinase activity and cell adhesion to the extracellular matrix.
Our experimental data demonstrate that high expression of Prickle1 and Vangl2 reduce the growth of neuroblastoma cells and indicate different roles of PCP proteins in tumorigenic cells compared to normal cells.
Title: Planar cell polarity gene expression correlates with tumor cell viability and prognostic outcome in neuroblastoma.
VANGL2 is overexpressed in basal breast cancers. It is involved in the proliferative signal cascade of the VANGL2-SQSTM1-JNK pathway.
Title: Identification of p62/SQSTM1 as a component of non-canonical Wnt VANGL2-JNK signalling in breast cancer.
Propose that Arfrp1 exposes a binding site on AP-1 that recognizes the Vangl2 sorting motif for capture into a transport vesicle destined for the proximal surface of a polarized epithelial cell.
Title: A novel GTP-binding protein-adaptor protein complex responsible for export of Vangl2 from the trans Golgi network.
The aberrant VANGL2 promoter methylation and the decreased gene expression is associated with Tetralogy of Fallot.
Title: Promoter methylation and expression of the VANGL2 gene in the myocardium of pediatric patients with tetralogy of fallot.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Neural tube defect MedGen: C0027794 OMIM: 182940 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH92930 (e-PCR)
- UniSTS:88648

AL009375 (e-PCR)
- UniSTS:54485

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Wnt signaling pathway, planar cell polarity pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in Wnt signaling pathway, planar cell polarity pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in apical protein localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell migration involved in kidney development	ISS Inferred from Sequence or Structural Similarity more info
involved_in dopaminergic neuron axon guidance	ISS Inferred from Sequence or Structural Similarity more info
involved_in establishment of planar polarity	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment of planar polarity	ISS Inferred from Sequence or Structural Similarity more info
involved_in heart looping	ISS Inferred from Sequence or Structural Similarity more info
involved_in neural tube closure	ISS Inferred from Sequence or Structural Similarity more info
involved_in non-motile cilium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in serotonergic neuron axon guidance	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cell-cell junction	ISS Inferred from Sequence or Structural Similarity more info
located_in lateral plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

Go to the top of the page Help

Preferred Names: vang-like protein 2

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

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.