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

Gene ID: 57216, updated on 4-Jul-2021

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
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Genomic context

See VANGL2 in Genome Data Viewer
Location:
1q23.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (160400564..160428674)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (160370354..160398460)

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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
GeneReviews: Not available
Neural tube defect
MedGen: C0027794 OMIM: 182940 GeneReviews: Not available
Compare labs

Pathways from PubChem

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
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
PubMed 
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 establishment of planar polarity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
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 integral component of membrane IEA
Inferred from Electronic Annotation
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
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
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)

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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

  1. NG_023420.1 RefSeqGene

    Range
    4991..33097
    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 Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    160400564..160428674
    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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