EVC2 Gene

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1		Vivi Li	+ 419 word(s)	419	2020-12-15 07:52:11

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Li, V. EVC2 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5447 (accessed on 21 September 2026).

Li V. EVC2 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5447. Accessed September 21, 2026.

Li, Vivi. "EVC2 Gene" Encyclopedia, https://encyclopedia.pub/entry/5447 (accessed September 21, 2026).

Li, V. (2020, December 24). EVC2 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5447

Li, Vivi. "EVC2 Gene." Encyclopedia. Web. 24 December, 2020.

EVC2 Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/evc2

EvC ciliary complex subunit 2

genes

References

Blair HJ, Tompson S, Liu YN, Campbell J, MacArthur K, Ponting CP, Ruiz-PerezVL, Goodship JA. Evc2 is a positive modulator of Hedgehog signalling thatinteracts with Evc at the cilia membrane and is also found in the nucleus. BMCBiol. 2011 Feb 28;9:14. doi: 10.1186/1741-7007-9-14.
Dorn KV, Hughes CE, Rohatgi R. A Smoothened-Evc2 complex transduces theHedgehog signal at primary cilia. Dev Cell. 2012 Oct 16;23(4):823-35. doi:10.1016/j.devcel.2012.07.004.
Galdzicka M, Patnala S, Hirshman MG, Cai JF, Nitowsky H, Egeland JA, Ginns EI.A new gene, EVC2, is mutated in Ellis-van Creveld syndrome. Mol Genet Metab. 2002Dec;77(4):291-5.
Morrell CH, Brant LJ. Modelling hearing thresholds in the elderly. Stat Med.1991 Sep;10(9):1453-64.
Ruiz-Perez VL, Goodship JA. Ellis-van Creveld syndrome and Weyers acrodentaldysostosis are caused by cilia-mediated diminished response to hedgehog ligands. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):341-51. doi:10.1002/ajmg.c.30226. Review.
Ruiz-Perez VL, Tompson SW, Blair HJ, Espinoza-Valdez C, Lapunzina P, Silva EO,Hamel B, Gibbs JL, Young ID, Wright MJ, Goodship JA. Mutations in twononhomologous genes in a head-to-head configuration cause Ellis-van Creveldsyndrome. Am J Hum Genet. 2003 Mar;72(3):728-32.
Sund KL, Roelker S, Ramachandran V, Durbin L, Benson DW. Analysis of Ellis vanCreveld syndrome gene products: implications for cardiovascular development anddisease. Hum Mol Genet. 2009 May 15;18(10):1813-24. doi: 10.1093/hmg/ddp098.
Tompson SW, Ruiz-Perez VL, Blair HJ, Barton S, Navarro V, Robson JL, WrightMJ, Goodship JA. Sequencing EVC and EVC2 identifies mutations in two-thirds ofEllis-van Creveld syndrome patients. Hum Genet. 2007 Jan;120(5):663-70.
Valencia M, Lapunzina P, Lim D, Zannolli R, Bartholdi D, Wollnik B, Al-AjlouniO, Eid SS, Cox H, Buoni S, Hayek J, Martinez-Frias ML, Antonio PA, Temtamy S,Aglan M, Goodship JA, Ruiz-Perez VL. Widening the mutation spectrum of EVC andEVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disruptsHedgehog signaling. Hum Mutat. 2009 Dec;30(12):1667-75. doi: 10.1002/humu.21117.
Ye X, Song G, Fan M, Shi L, Jabs EW, Huang S, Guo R, Bian Z. A novelheterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis. HumGenet. 2006 Mar;119(1-2):199-205.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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