ENSG00000162738


Homo sapiens

Features
Gene ID: ENSG00000162738
  
Biological name :VANGL2
  
Synonyms : Q9ULK5 / VANGL2 / VANGL planar cell polarity protein 2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: q23.2
Gene start: 160400586
Gene end: 160428678
  
Corresponding Affymetrix probe sets: 226029_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000357040
NCBI entrez gene - 57216     See in Manteia.
OMIM - 600533
RefSeq - XM_011509804
RefSeq - NM_020335
RefSeq - XM_005245357
RefSeq Peptide - NP_065068
swissprot - Q9ULK5
Ensembl - ENSG00000162738
  
Related genetic diseases (OMIM): 182940 - Neural tube defects, 182940
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 Q8UVJ6ENSDARG00000027397Danio rerio
 VANGL2ENSGALG00000030643Gallus gallus
 Q91ZD4ENSMUSG00000026556Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q8TAA9 / VANGL1 / VANGL planar cell polarity protein 1ENSG0000017321873


Protein motifs (from Interpro)
Interpro ID Name
 IPR009539  Vang-like protein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001736 establishment of planar polarity IEA
 biological_processGO:0001843 neural tube closure IEA
 biological_processGO:0001942 hair follicle development IEA
 biological_processGO:0001947 heart looping IEA
 biological_processGO:0003149 membranous septum morphogenesis IEA
 biological_processGO:0003150 muscular septum morphogenesis IEA
 biological_processGO:0003402 planar cell polarity pathway involved in axis elongation IEA
 biological_processGO:0007266 Rho protein signal transduction IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0009952 anterior/posterior pattern specification IEA
 biological_processGO:0015012 heparan sulfate proteoglycan biosynthetic process IEA
 biological_processGO:0022007 convergent extension involved in neural plate elongation IEA
 biological_processGO:0030111 regulation of Wnt signaling pathway IEA
 biological_processGO:0032835 glomerulus development IEA
 biological_processGO:0032956 regulation of actin cytoskeleton organization IEA
 biological_processGO:0035019 somatic stem cell population maintenance IEA
 biological_processGO:0035567 non-canonical Wnt signaling pathway IEA
 biological_processGO:0035787 cell migration involved in kidney development IEA
 biological_processGO:0036342 post-anal tail morphogenesis IEA
 biological_processGO:0036514 dopaminergic neuron axon guidance IEA
 biological_processGO:0036515 serotonergic neuron axon guidance IEA
 biological_processGO:0042060 wound healing IEA
 biological_processGO:0043507 positive regulation of JUN kinase activity IEA
 biological_processGO:0045176 apical protein localization IEA
 biological_processGO:0045197 establishment or maintenance of epithelial cell apical/basal polarity IEA
 biological_processGO:0048103 somatic stem cell division IEA
 biological_processGO:0048105 establishment of body hair planar orientation IEA
 biological_processGO:0048546 digestive tract morphogenesis IEA
 biological_processGO:0060028 convergent extension involved in axis elongation IEA
 biological_processGO:0060029 convergent extension involved in organogenesis IEA
 biological_processGO:0060071 Wnt signaling pathway, planar cell polarity pathway IEA
 biological_processGO:0060119 inner ear receptor cell development IEA
 biological_processGO:0060122 inner ear receptor cell stereocilium organization IEA
 biological_processGO:0060488 orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis IEA
 biological_processGO:0060489 planar dichotomous subdivision of terminal units involved in lung branching morphogenesis IEA
 biological_processGO:0060490 lateral sprouting involved in lung morphogenesis IEA
 biological_processGO:0060993 kidney morphogenesis IEA
 biological_processGO:0061346 planar cell polarity pathway involved in heart morphogenesis IEA
 biological_processGO:0090102 cochlea development IEA
 biological_processGO:0090103 cochlea morphogenesis IEA
 biological_processGO:0090175 regulation of establishment of planar polarity IEA
 biological_processGO:0090177 establishment of planar polarity involved in neural tube closure IEA
 biological_processGO:0090179 planar cell polarity pathway involved in neural tube closure IEA
 biological_processGO:1904938 planar cell polarity pathway involved in axon guidance IEA
 biological_processGO:1905515 non-motile cilium assembly IEA
 cellular_componentGO:0001725 stress fiber IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005911 cell-cell junction IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016323 basolateral plasma membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0016328 lateral plasma membrane IEA
 cellular_componentGO:0030134 COPII-coated ER to Golgi transport vesicle IEA
 cellular_componentGO:0060187 cell pole IEA
 cellular_componentGO:0071944 cell periphery IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
PCP/CE pathway
Asymmetric localization of PCP proteins


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000020 Urinary incontinence "Loss of the ability to control the urinary bladder leading to involuntary urination." [HPO:sdoelken]
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 HP:0000238 Hydrocephalus 
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 HP:0001012 Lipomas "The presence of multiple lipomas (a type of benign tissue made of fatty tissue)." [HPO:curators]
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 HP:0002323 Anencephaly 
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 HP:0002475 Meningomyelocele 
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 HP:0003298 Spina bifida occulta "The closed form of spina bifida." [HPO:curators]
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 HP:0008207 Primary adrenal insufficiency 
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 HP:0008482 Asymmetry of spinal facet joints 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000114251 WNT5A / P41221 / Wnt family member 5A  / complex / reaction
 ENSG00000104290 FZD3 / Q9NPG1 / frizzled class receptor 3  / reaction / complex
 ENSG00000180900 SCRIB / Q14160 / scribbled planar cell polarity protein  / complex / reaction
 ENSG00000169071 ROR2 / Q01974 / receptor tyrosine kinase like orphan receptor 2  / reaction / complex






 

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