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Gene Review

VANGL2  -  VANGL planar cell polarity protein 2

Homo sapiens

Synonyms: KIAA1215, LPP1, LTAP, Loop-tail protein 1 homolog, MGC119403, ...
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Disease relevance of VANGL2

  • STB1 is moderately expressed in K-562 (leukemia), G-361 (melanoma), and MKN7 (gastric cancer) cells [1].
  • To understand the underlying binding mechanism, binding behaviors of phage particles harboring the STB1 (a high-frequency heptapeptide exhibiting dual binding affinity to both metal oxides) were investigated in a wide pH range using quartz crystal microbalance with energy dissipation measurement (QCM-D) [2].
  • On the other hand, STB1 mRNA was almost undetectable in several human cancer cell lines, and was down-regulated in 4 out of 14 cases of primary kidney tumors, and in 2 out of 3 cases of primary lung cancer [3].
  • STB1 mRNA was moderately expressed in K-562 (chronic myelogenous leukemia), G-361 (melanoma), and MKN7 (gastric cancer) [3].
  • Congenital fibrosis of the extraocular muscles type 1 (CFEOM1; OMIM #135700) is an autosomal dominant strabismus disorder associated with defects of the oculomotor nerve [4].

Psychiatry related information on VANGL2

  • The role of ocular muscle proprioception in the localization of visual targets has been investigated in normal humans by deviating one eye to create an experimental strabismus [5].
  • Yet they all showed mild mental retardation, hypotonia, cerebellar hypoplasia, and strabismus [6].
  • In this study, we investigated how brief periods of ocular misalignment (strabismus) at the height of the critical period alter the cortical circuits that support binocular vision [7].
  • Dissociations found between the presence and severity of strabismus, stereopsis, amblyopia and optokinetic abnormalities point to these features being relatively independent although associated in typical clusterings [8].
  • PURPOSE: The authors showed earlier that animals reared with certain types of visual sensory deprivation during their first few months of life develop large horizontal strabismus, A/V patterns, and dissociated vertical deviation (DVD) [9].

High impact information on VANGL2


Chemical compound and disease context of VANGL2


Biological context of VANGL2


Anatomical context of VANGL2


Associations of VANGL2 with chemical compounds


Physical interactions of VANGL2

  • Further, this report demonstrates that the membrane protein Vangl2 binds selectively to specific PDZ domains in Scrib [28].
  • Congenital fibrosis of the extraocular muscles type 2 (CFEOM2) is a complex strabismus syndrome that results from mutations in the homeodomain transcription factor PHOX2A [29].

Regulatory relationships of VANGL2

  • Therefore these three more relevant acupoints, BL-10, BL-11 and GB-34 were stimulated to evaluate the antiemetic effect in children undergoing strabismus surgery [30].

Other interactions of VANGL2


Analytical, diagnostic and therapeutic context of VANGL2

  • STB1 and STB2 might be suitable targets for tissue engineering in the field of re-generative medicine and for chemoprevention and treatment in the field of clinical oncology [1].
  • Her main clinical features are developmental delay, protruding tongue, strabismus, slightly unusual facies, slight micrognathia, and speech delay [36].
  • METHODS: For 262 eyes of 131 children with strabismus (age range, 6 months to 11 years), the radius of the corneal curvature was measured with an auto-keratometer and the anterior chamber depth with an A-scan ultrasound unit under general anesthesia before the surgery [37].
  • Presurgery measurements of egocenter location in the people with strabismus were the same as those found in the other control group of 12 normal children [38].
  • Other procedures, including tonsillectomy, circumcision, and strabismus repair, resulted in about one-half the children experiencing clinically significant pain (> or = 30 mm on a 100 mm VAS) [39].


  1. Strabismus (STB)/Vang-like (VANGL) gene family (Review). Katoh, M. Int. J. Mol. Med. (2002) [Pubmed]
  2. QCM-D analysis of binding mechanism of phage particles displaying a constrained heptapeptide with specific affinity to SiO2 and TiO2. Chen, H., Su, X., Neoh, K.G., Choe, W.S. Anal. Chem. (2006) [Pubmed]
  3. Structure and expression of Strabismus 1 gene on human chromosome 1q21-q23. Katoh, M. Int. J. Oncol. (2002) [Pubmed]
  4. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Yamada, K., Andrews, C., Chan, W.M., McKeown, C.A., Magli, A., de Berardinis, T., Loewenstein, A., Lazar, M., O'Keefe, M., Letson, R., London, A., Ruttum, M., Matsumoto, N., Saito, N., Morris, L., Del Monte, M., Johnson, R.H., Uyama, E., Houtman, W.A., de Vries, B., Carlow, T.J., Hart, B.L., Krawiecki, N., Shoffner, J., Vogel, M.C., Katowitz, J., Goldstein, S.M., Levin, A.V., Sener, E.C., Ozturk, B.T., Akarsu, A.N., Brodsky, M.C., Hanisch, F., Cruse, R.P., Zubcov, A.A., Robb, R.M., Roggenkäemper, P., Gottlob, I., Kowal, L., Battu, R., Traboulsi, E.I., Franceschini, P., Newlin, A., Demer, J.L., Engle, E.C. Nat. Genet. (2003) [Pubmed]
  5. The role of ocular muscle proprioception in visual localization of targets. Gauthier, G.M., Nommay, D., Vercher, J.L. Science (1990) [Pubmed]
  6. High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency). Grünewald, S., Schollen, E., Van Schaftingen, E., Jaeken, J., Matthijs, G. Am. J. Hum. Genet. (2001) [Pubmed]
  7. Rapid plasticity of binocular connections in developing monkey visual cortex (V1). Zhang, B., Bi, H., Sakai, E., Maruko, I., Zheng, J., Smith, E.L., Chino, Y.M. Proc. Natl. Acad. Sci. U.S.A. (2005) [Pubmed]
  8. Neurology of latent nystagmus. Gresty, M.A., Metcalfe, T., Timms, C., Elston, J., Lee, J., Liu, C. Brain (1992) [Pubmed]
  9. Correlation of cross-axis eye movements and motoneuron activity in non-human primates with "a" pattern strabismus. Das, V.E., Mustari, M.J. Invest. Ophthalmol. Vis. Sci. (2007) [Pubmed]
  10. Identification of the gene causing mucolipidosis type IV. Bargal, R., Avidan, N., Ben-Asher, E., Olender, Z., Zeigler, M., Frumkin, A., Raas-Rothschild, A., Glusman, G., Lancet, D., Bach, G. Nat. Genet. (2000) [Pubmed]
  11. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. Bech-Hansen, N.T., Naylor, M.J., Maybaum, T.A., Pearce, W.G., Koop, B., Fishman, G.A., Mets, M., Musarella, M.A., Boycott, K.M. Nat. Genet. (1998) [Pubmed]
  12. Abnormalities of the central visual pathways in Prader-Willi syndrome associated with hypopigmentation. Creel, D.J., Bendel, C.M., Wiesner, G.L., Wirtschafter, J.D., Arthur, D.C., King, R.A. N. Engl. J. Med. (1986) [Pubmed]
  13. Current concepts in ophthalmology. Strabismus. Reinecke, R.D. N. Engl. J. Med. (1979) [Pubmed]
  14. A double-blinded comparison of metoclopramide and droperidol for prevention of emesis following strabismus surgery. Lin, D.M., Furst, S.R., Rodarte, A. Anesthesiology (1992) [Pubmed]
  15. Inspired oxygen fraction of 0.8 does not attenuate postoperative nausea and vomiting after strabismus surgery. Treschan, T.A., Zimmer, C., Nass, C., Stegen, B., Esser, J., Peters, J. Anesthesiology (2005) [Pubmed]
  16. Effect of propofol on the incidence of postoperative vomiting after strabismus surgery in pediatric outpatients. Watcha, M.F., Simeon, R.M., White, P.F., Stevens, J.L. Anesthesiology (1991) [Pubmed]
  17. Preoperative oral granisetron for the prevention of vomiting after strabismus surgery in children. Fujii, Y., Tanaka, H., Ito, M. Ophthalmology (1999) [Pubmed]
  18. Ketorolac versus acetaminophen or ibuprofen in controlling postoperative pain in patients with strabismus. Morrison, N.A., Repka, M.X. Ophthalmology (1994) [Pubmed]
  19. A strabismus susceptibility locus on chromosome 7p. Parikh, V., Shugart, Y.Y., Doheny, K.F., Zhang, J., Li, L., Williams, J., Hayden, D., Craig, B., Capo, H., Chamblee, D., Chen, C., Collins, M., Dankner, S., Fiergang, D., Guyton, D., Hunter, D., Hutcheon, M., Keys, M., Morrison, N., Munoz, M., Parks, M., Plotsky, D., Protzko, E., Repka, M.X., Sarubbi, M., Schnall, B., Siatkowski, R.M., Traboulsi, E., Waeltermann, J., Nathans, J. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  20. Association between schizophrenia with ocular misalignment and polyalanine length variation in PMX2B. Toyota, T., Yoshitsugu, K., Ebihara, M., Yamada, K., Ohba, H., Fukasawa, M., Minabe, Y., Nakamura, K., Sekine, Y., Takei, N., Suzuki, K., Itokawa, M., Meerabux, J.M., Iwayama-Shigeno, Y., Tomaru, Y., Shimizu, H., Hattori, E., Mori, N., Yoshikawa, T. Hum. Mol. Genet. (2004) [Pubmed]
  21. Candidate loci for Zimmermann-Laband syndrome at 3p14.3. Kim, H.G., Higgins, A.W., Herrick, S.R., Kishikawa, S., Nicholson, L., Kutsche, K., Ligon, A.H., Harris, D.J., Macdonald, M.E., Bruns, G.A., Morton, C.C., Quade, B.J., Gusella, J.F. Am. J. Med. Genet. A (2007) [Pubmed]
  22. Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. Newton, J.M., Cohen-Barak, O., Hagiwara, N., Gardner, J.M., Davisson, M.T., King, R.A., Brilliant, M.H. Am. J. Hum. Genet. (2001) [Pubmed]
  23. Lipid Phosphate Phosphatase-1 Regulates Lysophosphatidate-induced Fibroblast Migration by Controlling Phospholipase D2-dependent Phosphatidate Generation. Pilquil, C., Dewald, J., Cherney, A., Gorshkova, I., Tigyi, G., English, D., Natarajan, V., Brindley, D.N. J. Biol. Chem. (2006) [Pubmed]
  24. Effect of droperidol pretreatment on postanesthetic vomiting in children undergoing strabismus surgery. Lerman, J., Eustis, S., Smith, D.R. Anesthesiology (1986) [Pubmed]
  25. Low-dose ondansetron with dexamethasone more effectively decreases vomiting after strabismus surgery in children than does high-dose ondansetron. Splinter, W.M., Rhine, E.J. Anesthesiology (1998) [Pubmed]
  26. The use of propofol and mivacurium anesthetic technique for the immediate postoperative adjustment of sutures in strabismus surgery. Ward, J.B., Niffenegger, A.S., Lavin, C.W., Acquadro, M.A., Ahern, D.K., Smith, P.V., McKeown, C.A. Ophthalmology (1995) [Pubmed]
  27. Ocular hypertensive response to topical dexamethasone in children: a dose-dependent phenomenon. Ng, J.S., Fan, D.S., Young, A.L., Yip, N.K., Tam, K., Kwok, A.K., Lam, D.S. Ophthalmology (2000) [Pubmed]
  28. Scribble associates with two polarity proteins, lgl2 and vangl2, via distinct molecular domains. Kallay, L.M., McNickle, A., Brennwald, P.J., Hubbard, A.L., Braiterman, L.T. J. Cell. Biochem. (2006) [Pubmed]
  29. Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A. Bosley, T.M., Oystreck, D.T., Robertson, R.L., al Awad, A., Abu-Amero, K., Engle, E.C. Brain (2006) [Pubmed]
  30. Effect of BL-10 (tianzhu), BL-11 (dazhu) and GB-34 (yanglinquan) acuplaster for prevention of vomiting after strabismus surgery in children. Chu, Y.C., Lin, S.M., Hsieh, Y.C., Peng, G.C., Lin, Y.H., Tsai, S.K., Lee, T.Y. Acta Anaesthesiol. Sin. (1998) [Pubmed]
  31. Molecular cloning and characterization of Strabismus 2 (STB2). Katoh, M. Int. J. Oncol. (2002) [Pubmed]
  32. Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation. Okajima, K., Robinson, L.K., Hart, M.A., Abuelo, D.N., Cowan, L.S., Hasegawa, T., Maumenee, I.H., Jabs, E.W. Am. J. Med. Genet. (1999) [Pubmed]
  33. Ocular findings in the Hermansky-Pudlak syndrome. Izquierdo, N.J., Townsend, W., Hussels, I.E. Transactions of the American Ophthalmological Society. (1995) [Pubmed]
  34. New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene. Oetting, W.S. Hum. Mutat. (2002) [Pubmed]
  35. Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia. Bergmann, C., Zerres, K., Senderek, J., Rudnik-Schoneborn, S., Eggermann, T., Häusler, M., Mull, M., Ramaekers, V.T. Brain (2003) [Pubmed]
  36. Partial monosomy 12p13.1----13.3. Romain, D.R., Goldsmith, J., Columbano-Green, L.M., Chapman, C.J., Smythe, R.H., Parfitt, R.G. J. Med. Genet. (1987) [Pubmed]
  37. Biometric confirmation of the Hirschberg ratio in strabismic children. Hasebe, S., Ohtsuki, H., Kono, R., Nakahira, Y. Invest. Ophthalmol. Vis. Sci. (1998) [Pubmed]
  38. Egocenter location in children with strabismus: in the median plane and unchanged by surgery. Dengis, C.A., Steinbach, M.J., Ono, H., Kraft, S.P., Smith, D.R., Graham, J.E. Invest. Ophthalmol. Vis. Sci. (1993) [Pubmed]
  39. Parents' management of children's pain following 'minor' surgery. Finley, G.A., McGrath, P.J., Forward, S.P., McNeill, G., Fitzgerald, P. Pain (1996) [Pubmed]
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