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VANGL2 (VANGL planar cell polarity protein 2)

Identity

Alias_namesvang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)
vang-like 2 (van gogh, Drosophila)
Alias_symbol (synonym)KIAA1215
LTAP
LPP1
STBM
STB1
STBM1
MGC119403
MGC119404
Other alias
HGNC (Hugo) VANGL2
LocusID (NCBI) 57216
Atlas_Id 52810
Location 1q23.2  [Link to chromosome band 1q23]
Location_base_pair Starts at 160400574 and ends at 160428678 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
VANGL2 (1q23.2) / PDE4DIP (1q21.1)VANGL2 (1q23.2) / VANGL2 (1q23.2)VANGL2 1q23.2 / PDE4DIP 1q21.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)VANGL2   15511
Cards
Entrez_Gene (NCBI)VANGL2  57216  VANGL planar cell polarity protein 2
AliasesLPP1; LTAP; STB1; STBM; 
STBM1
GeneCards (Weizmann)VANGL2
Ensembl hg19 (Hinxton)ENSG00000162738 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000162738 [Gene_View]  chr1:160400574-160428678 [Contig_View]  VANGL2 [Vega]
ICGC DataPortalENSG00000162738
TCGA cBioPortalVANGL2
AceView (NCBI)VANGL2
Genatlas (Paris)VANGL2
WikiGenes57216
SOURCE (Princeton)VANGL2
Genetics Home Reference (NIH)VANGL2
Genomic and cartography
GoldenPath hg38 (UCSC)VANGL2  -     chr1:160400574-160428678 +  1q23.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)VANGL2  -     1q23.2   [Description]    (hg19-Feb_2009)
EnsemblVANGL2 - 1q23.2 [CytoView hg19]  VANGL2 - 1q23.2 [CytoView hg38]
Mapping of homologs : NCBIVANGL2 [Mapview hg19]  VANGL2 [Mapview hg38]
OMIM182940   600533   
Gene and transcription
Genbank (Entrez)AB033041 AK290981 AL137558 BC103920 BC166628
RefSeq transcript (Entrez)NM_020335
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)VANGL2
Cluster EST : UnigeneHs.99477 [ NCBI ]
CGAP (NCI)Hs.99477
Alternative Splicing GalleryENSG00000162738
Gene ExpressionVANGL2 [ NCBI-GEO ]   VANGL2 [ EBI - ARRAY_EXPRESS ]   VANGL2 [ SEEK ]   VANGL2 [ MEM ]
Gene Expression Viewer (FireBrowse)VANGL2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57216
GTEX Portal (Tissue expression)VANGL2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9ULK5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9ULK5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9ULK5
Splice isoforms : SwissVarQ9ULK5
PhosPhoSitePlusQ9ULK5
Domains : Interpro (EBI)VANGL   
Domain families : Pfam (Sanger)Strabismus (PF06638)   
Domain families : Pfam (NCBI)pfam06638   
Conserved Domain (NCBI)VANGL2
DMDM Disease mutations57216
Blocks (Seattle)VANGL2
SuperfamilyQ9ULK5
Human Protein AtlasENSG00000162738
Peptide AtlasQ9ULK5
HPRD02758
IPIIPI00029449   
Protein Interaction databases
DIP (DOE-UCLA)Q9ULK5
IntAct (EBI)Q9ULK5
FunCoupENSG00000162738
BioGRIDVANGL2
STRING (EMBL)VANGL2
ZODIACVANGL2
Ontologies - Pathways
QuickGOQ9ULK5
Ontology : AmiGOstress fiber  establishment of planar polarity  neural tube closure  hair follicle development  heart looping  membranous septum morphogenesis  muscular septum morphogenesis  planar cell polarity pathway involved in axis elongation  protein binding  plasma membrane  cell-cell junction  Rho protein signal transduction  anterior/posterior pattern specification  heparan sulfate proteoglycan biosynthetic process  integral component of membrane  basolateral plasma membrane  apical plasma membrane  lateral plasma membrane  convergent extension involved in neural plate elongation  regulation of Wnt signaling pathway  ER to Golgi transport vesicle  glomerulus development  regulation of actin cytoskeleton organization  somatic stem cell population maintenance  cell migration involved in kidney development  post-anal tail morphogenesis  dopaminergic neuron axon guidance  serotonergic neuron axon guidance  wound healing  positive regulation of JUN kinase activity  apical protein localization  establishment or maintenance of epithelial cell apical/basal polarity  somatic stem cell division  establishment of body hair planar orientation  digestive tract morphogenesis  convergent extension involved in axis elongation  inner ear receptor stereocilium organization  cell pole  orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis  planar dichotomous subdivision of terminal units involved in lung branching morphogenesis  lateral sprouting involved in lung morphogenesis  kidney morphogenesis  planar cell polarity pathway involved in heart morphogenesis  cochlea morphogenesis  establishment of planar polarity involved in neural tube closure  planar cell polarity pathway involved in neural tube closure  planar cell polarity pathway involved in axon guidance  non-motile cilium assembly  
Ontology : EGO-EBIstress fiber  establishment of planar polarity  neural tube closure  hair follicle development  heart looping  membranous septum morphogenesis  muscular septum morphogenesis  planar cell polarity pathway involved in axis elongation  protein binding  plasma membrane  cell-cell junction  Rho protein signal transduction  anterior/posterior pattern specification  heparan sulfate proteoglycan biosynthetic process  integral component of membrane  basolateral plasma membrane  apical plasma membrane  lateral plasma membrane  convergent extension involved in neural plate elongation  regulation of Wnt signaling pathway  ER to Golgi transport vesicle  glomerulus development  regulation of actin cytoskeleton organization  somatic stem cell population maintenance  cell migration involved in kidney development  post-anal tail morphogenesis  dopaminergic neuron axon guidance  serotonergic neuron axon guidance  wound healing  positive regulation of JUN kinase activity  apical protein localization  establishment or maintenance of epithelial cell apical/basal polarity  somatic stem cell division  establishment of body hair planar orientation  digestive tract morphogenesis  convergent extension involved in axis elongation  inner ear receptor stereocilium organization  cell pole  orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis  planar dichotomous subdivision of terminal units involved in lung branching morphogenesis  lateral sprouting involved in lung morphogenesis  kidney morphogenesis  planar cell polarity pathway involved in heart morphogenesis  cochlea morphogenesis  establishment of planar polarity involved in neural tube closure  planar cell polarity pathway involved in neural tube closure  planar cell polarity pathway involved in axon guidance  non-motile cilium assembly  
Pathways : KEGGWnt signaling pathway   
NDEx NetworkVANGL2
Atlas of Cancer Signalling NetworkVANGL2
Wikipedia pathwaysVANGL2
Orthology - Evolution
OrthoDB57216
GeneTree (enSembl)ENSG00000162738
Phylogenetic Trees/Animal Genes : TreeFamVANGL2
HOVERGENQ9ULK5
HOGENOMQ9ULK5
Homologs : HomoloGeneVANGL2
Homology/Alignments : Family Browser (UCSC)VANGL2
Gene fusions - Rearrangements
Fusion : MitelmanVANGL2/PDE4DIP [1q23.2/1q21.1]  
Fusion: TCGAVANGL2 1q23.2 PDE4DIP 1q21.1 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerVANGL2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)VANGL2
dbVarVANGL2
ClinVarVANGL2
1000_GenomesVANGL2 
Exome Variant ServerVANGL2
ExAC (Exome Aggregation Consortium)VANGL2 (select the gene name)
Genetic variants : HAPMAP57216
Genomic Variants (DGV)VANGL2 [DGVbeta]
DECIPHERVANGL2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisVANGL2 
Mutations
ICGC Data PortalVANGL2 
TCGA Data PortalVANGL2 
Broad Tumor PortalVANGL2
OASIS PortalVANGL2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICVANGL2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDVANGL2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch VANGL2
DgiDB (Drug Gene Interaction Database)VANGL2
DoCM (Curated mutations)VANGL2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)VANGL2 (select a term)
intoGenVANGL2
Cancer3DVANGL2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM182940    600533   
Orphanet20199    20198    20197    20196    20195    20194    20192    20188    20189    20190    20191    20187    5014   
MedgenVANGL2
Genetic Testing Registry VANGL2
NextProtQ9ULK5 [Medical]
TSGene57216
GENETestsVANGL2
Target ValidationVANGL2
Huge Navigator VANGL2 [HugePedia]
snp3D : Map Gene to Disease57216
BioCentury BCIQVANGL2
ClinGenVANGL2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57216
Chemical/Pharm GKB GenePA37970
Clinical trialVANGL2
Miscellaneous
canSAR (ICR)VANGL2 (select the gene name)
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineVANGL2
EVEXVANGL2
GoPubMedVANGL2
iHOPVANGL2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 14:11:26 CEST 2017

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