VANGL2

VANGL planar cell polarity protein 2 is a protein that in humans is encoded by the VANGL2 gene.

VANGL2
Identifiers
Aliases	VANGL2, LPP1, LTAP, STB1, STBM, STBM1, VANGL planar cell polarity protein 2
External IDs	OMIM: 600533; MGI: 2135272; HomoloGene: 62161; GeneCards: VANGL2; OMA:VANGL2 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) Band 1q23.2 Start 160,400,564 bp End 160,428,670 bp
Gene location (Mouse) Chr. Chromosome 1 (mouse) Band 1 H3|1 79.54 cM Start 171,828,527 bp End 171,856,011 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence buccal mucosa cell ventricular zone skin of arm skin of abdomen skin of leg skin of thigh vagina minor salivary glands cerebellar hemisphere Top expressed in ventricular zone molar ganglionic eminence tail of embryo neural plate genital tubercle neural groove lip neural fold medial ganglionic eminence More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component integral component of membrane lateral plasma membrane membrane cell-cell junction plasma membrane cell pole stress fiber basolateral plasma membrane apical plasma membrane COPII-coated ER to Golgi transport vesicle cell periphery Biological process hair follicle development dopaminergic neuron axon guidance cochlea development planar dichotomous subdivision of terminal units involved in lung branching morphogenesis non-canonical Wnt signaling pathway regulation of establishment of planar polarity lateral sprouting involved in lung morphogenesis inner ear receptor cell stereocilium organization regulation of actin cytoskeleton organization somatic stem cell population maintenance convergent extension involved in axis elongation orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis positive regulation of JUN kinase activity muscular septum morphogenesis serotonergic neuron axon guidance establishment of planar polarity membranous septum morphogenesis somatic stem cell division planar cell polarity pathway involved in heart morphogenesis heparan sulfate proteoglycan biosynthetic process wound healing glomerulus development establishment of body hair planar orientation planar cell polarity pathway involved in axis elongation establishment of planar polarity involved in neural tube closure planar cell polarity pathway involved in neural tube closure multicellular organism development heart looping Wnt signaling pathway, planar cell polarity pathway regulation of Wnt signaling pathway neural tube closure inner ear receptor cell development cochlea morphogenesis apical protein localization Rho protein signal transduction establishment or maintenance of epithelial cell apical/basal polarity kidney morphogenesis cell migration involved in kidney development post-anal tail morphogenesis convergent extension involved in neural plate elongation convergent extension involved in organogenesis anterior/posterior pattern specification digestive tract morphogenesis planar cell polarity pathway involved in axon guidance non-motile cilium assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 57216 93840 Ensembl ENSG00000162738 ENSMUSG00000026556 UniProt Q9ULK5 Q91ZD4 RefSeq (mRNA) NM_020335 NM_033509 RefSeq (protein) NP_065068 NP_277044 Location (UCSC) Chr 1: 160.4 – 160.43 Mb Chr 1: 171.83 – 171.86 Mb PubMed search
Wikidata
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Function

The protein encoded by the VANGL2 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].

Further reading

• Erdal E, Erdal C, Bulut G, Kunter I, Kir M, Atabey N, Açikel U (2007). "Mutation analysis of the Vangl2 coding region revealed no common cause for Tetralogy of Fallot". J. Int. Med. Res. 35 (6): 867–72. doi:10.1177/147323000703500614. PMID 18034999. S2CID 28747920.
• Cantrell VA, Jessen JR (January 2010). "The planar cell polarity protein Van Gogh-Like 2 regulates tumor cell migration and matrix metalloproteinase-dependent invasion". Cancer Lett. 287 (1): 54–61. doi:10.1016/j.canlet.2009.05.041. PMID 19577357.
• Yates LL, Schnatwinkel C, Murdoch JN, Bogani D, Formstone CJ, Townsend S, Greenfield A, Niswander LA, Dean CH (June 2010). "The PCP genes Celsr1 and Vangl2 are required for normal lung branching morphogenesis". Hum. Mol. Genet. 19 (11): 2251–67. doi:10.1093/hmg/ddq104. PMC 2865378. PMID 20223754.
• Lei YP, Zhang T, Li H, Wu BL, Jin L, Wang HY (June 2010). "VANGL2 mutations in human cranial neural-tube defects". N. Engl. J. Med. 362 (23): 2232–5. doi:10.1056/NEJMc0910820. PMID 20558380.
• Lei YP, Zhang T, Li H, Wu BL, Jin L, Wang HY (June 2010). "VANGL2 mutations in human cranial neural-tube defects". N. Engl. J. Med. 362 (23): 2232–5. doi:10.1056/NEJMc0910820. PMID 20558380.
• Kibar Z, Salem S, Bosoi CM, Pauwels E, De Marco P, Merello E, Bassuk AG, Capra V, Gros P (July 2011). "Contribution of VANGL2 mutations to isolated neural tube defects". Clin. Genet. 80 (1): 76–82. doi:10.1111/j.1399-0004.2010.01515.x. PMC 3000889. PMID 20738329.
• Iliescu A, Gravel M, Horth C, Kibar Z, Gros P (February 2011). "Loss of membrane targeting of Vangl proteins causes neural tube defects". Biochemistry. 50 (5): 795–804. doi:10.1021/bi101286d. PMID 21142127.
• Guo Y, Zanetti G, Schekman R (January 2013). "A novel GTP-binding protein-adaptor protein complex responsible for export of Vangl2 from the trans Golgi network". eLife. 2: e00160. doi:10.7554/eLife.00160. PMC 3539332. PMID 23326640.
• Piazzi G, Selgrad M, Garcia M, Ceccarelli C, Fini L, Bianchi P, Laghi L, D'Angelo L, Paterini P, Malfertheiner P, Chieco P, Boland CR, Bazzoli F, Ricciardiello L (April 2013). "Van-Gogh-like 2 antagonises the canonical WNT pathway and is methylated in colorectal cancers". Br. J. Cancer. 108 (8): 1750–6. doi:10.1038/bjc.2013.142. PMC 3668461. PMID 23579212.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.