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

Gene ID: 57216, updated on 15-Apr-2019

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
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

Genomic context

See VANGL2 in Genome Data Viewer
Location:
1q23.2
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (160400574..160428678)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (160370364..160398468)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371466 Neighboring gene nescient helix-loop-helix 1 Neighboring gene RNA, U4 small nuclear 42, pseudogene Neighboring gene uncharacterized LOC105371467 Neighboring gene SLAM family member 6

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Neural tube defect
MedGen: C3891448 OMIM: 182940 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Asymmetric localization of PCP proteins, organism-specific biosystem (from REACTOME)
    Asymmetric localization of PCP proteins, organism-specific biosystemOne of the hallmarks of the Planar Cell Polarity pathway is the asymmetric distribution of proteins on opposite membranes of a single cell. In Drosophila, Stbm and Pk (homologues to the human VANGL1/...
  • Beta-catenin independent WNT signaling, organism-specific biosystem (from REACTOME)
    Beta-catenin independent WNT signaling, organism-specific biosystemHumans and mice have 19 identified WNT proteins that were originally classified as either 'canonical' or 'non-canonical' depending upon whether they were able to transform the mouse mammary epithelia...
  • PCP/CE pathway, organism-specific biosystem (from REACTOME)
    PCP/CE pathway, organism-specific biosystemThe planar cell polarity (PCP) pathway controls the establishment of polarity within the plane of a sheet of cells. PCP was initially characterized in Drosophila, where it controls the arrangement o...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Wnt, organism-specific biosystem (from REACTOME)
    Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1215, MGC119403, MGC119404

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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
 
dopaminergic neuron axon guidance 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
 
glomerulus development 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
 
heparan sulfate proteoglycan biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
inner ear receptor cell stereocilium organization IEA
Inferred from Electronic Annotation
more info
 
kidney morphogenesis 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
 
non-motile 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 axon guidance IEA
Inferred from Electronic Annotation
more info
 
planar cell polarity pathway involved in heart morphogenesis 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
 
post-anal tail morphogenesis IEA
Inferred from Electronic Annotation
more info
 
regulation of Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
regulation of actin cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
serotonergic neuron axon guidance IEA
Inferred from Electronic Annotation
more info
 
somatic stem cell division IEA
Inferred from Electronic Annotation
more info
 
somatic stem cell population maintenance IEA
Inferred from Electronic Annotation
more info
 
wound healing IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
COPII-coated ER to Golgi transport vesicle IEA
Inferred from Electronic Annotation
more info
 
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 component of membrane IEA
Inferred from Electronic Annotation
more info
 
lateral plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
stress fiber IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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

  1. NG_023420.1 RefSeqGene

    Range
    5001..33105
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_020335.3NP_065068.1  vang-like protein 2

    See identical proteins and their annotated locations for NP_065068.1

    Status: REVIEWED

    Source sequence(s)
    AB033041, AK290981, AL445230, BG059541
    Consensus CDS
    CCDS30915.1
    UniProtKB/Swiss-Prot
    Q9ULK5
    UniProtKB/TrEMBL
    A8K4L6
    Related
    ENSP00000357040.2, ENST00000368061.3
    Conserved Domains (1) summary
    pfam06638
    Location:34521
    Strabismus; Strabismus protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    160400574..160428678
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509804.1XP_011508106.1  vang-like protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011508106.1

    UniProtKB/Swiss-Prot
    Q9ULK5
    Conserved Domains (1) summary
    pfam06638
    Location:34521
    Strabismus; Strabismus protein
  2. XM_005245357.1XP_005245414.1  vang-like protein 2 isoform X1

    See identical proteins and their annotated locations for XP_005245414.1

    UniProtKB/Swiss-Prot
    Q9ULK5
    Conserved Domains (1) summary
    pfam06638
    Location:34521
    Strabismus; Strabismus protein
  3. XM_011509805.3XP_011508107.1  vang-like protein 2 isoform X2

    Conserved Domains (1) summary
    pfam06638
    Location:34267
    Strabismus; Strabismus protein
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