Version 5.4
Homo sapiens Protein: VANGL2
Summary
InnateDB Protein IDBP-104050.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol VANGL2
Protein Name vang-like 2 (van gogh, Drosophila)
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000357040
InnateDB Gene IDBG-104048 (VANGL2)
Protein Structure
UniProt Annotation
Function Involved in the control of early morphogenesis and patterning of both axial midline structures and the development of neural plate. Plays a role in the regulation of planar cell polarity, particularly in the orientation of stereociliary bundles in the cochlea. Required for polarization and movement of myocardializing cells in the outflow tract and seems to act via RHOA signaling to regulate this process (By similarity). {ECO:0000250}.
Subcellular Localization Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
Disease Associations Neural tube defects (NTD) [MIM:182940]: Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components. {ECO:0000269PubMed:20558380}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 12 interaction(s) predicted by orthology.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 12 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0001736 establishment of planar polarity
GO:0001843 neural tube closure
GO:0001942 hair follicle development
GO:0001947 heart looping
GO:0003149 membranous septum morphogenesis
GO:0003150 muscular septum morphogenesis
GO:0003402 planar cell polarity pathway involved in axis elongation
GO:0007266 Rho protein signal transduction
GO:0007275 multicellular organismal development
GO:0009952 anterior/posterior pattern specification
GO:0022007 convergent extension involved in neural plate elongation
GO:0030111 regulation of Wnt signaling pathway
GO:0032835 glomerulus development
GO:0032956 regulation of actin cytoskeleton organization
GO:0035019 somatic stem cell maintenance
GO:0035058 nonmotile primary cilium assembly
GO:0035567 non-canonical Wnt signaling pathway
GO:0035787 cell migration involved in kidney development
GO:0036342 post-anal tail morphogenesis
GO:0042060 wound healing
GO:0043507 positive regulation of JUN kinase activity
GO:0045176 apical protein localization
GO:0045197 establishment or maintenance of epithelial cell apical/basal polarity
GO:0048103 somatic stem cell division
GO:0048105 establishment of body hair planar orientation
GO:0048546 digestive tract morphogenesis
GO:0060028 convergent extension involved in axis elongation
GO:0060029 convergent extension involved in organogenesis
GO:0060071 Wnt signaling pathway, planar cell polarity pathway
GO:0060119 inner ear receptor cell development
GO:0060122 inner ear receptor stereocilium organization
GO:0060488 orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis
GO:0060489 planar dichotomous subdivision of terminal units involved in lung branching morphogenesis
GO:0060490 lateral sprouting involved in lung morphogenesis
GO:0060993 kidney morphogenesis
GO:0061346 planar cell polarity pathway involved in heart morphogenesis
GO:0090102 cochlea development
GO:0090103 cochlea morphogenesis
GO:0090175 regulation of establishment of planar polarity
GO:0090177 establishment of planar polarity involved in neural tube closure
GO:0090179 planar cell polarity pathway involved in neural tube closure
Cellular Component
GO:0001725 stress fiber
GO:0005886 plasma membrane
GO:0005911 cell-cell junction
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0016328 lateral plasma membrane
GO:0030134 ER to Golgi transport vesicle
GO:0060187 cell pole
GO:0071944 cell periphery
Protein Structure and Domains
PDB ID
InterPro IPR009539 Strabismus
PFAM PF06638
PRINTS
PIRSF PIRSF007991
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9ULK5
PhosphoSite PhosphoSite-Q9ULK5
TrEMBL
UniProt Splice Variant
Entrez Gene 57216
UniGene Hs.99477
RefSeq NP_065068
HUGO HGNC:15511
OMIM 600533
CCDS CCDS30915
HPRD 02758
IMGT
EMBL AB033041 AL445230 BC103920 CH471121
GenPept BAA86529 CAI15015 EAW52718

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

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Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca