Gene Symbol: TMEM87B
Description: transmembrane protein 87B
Alias: transmembrane protein 87B
Hirata T, Fujita M, Nakamura S, Gotoh K, Motooka D, Murakami Y, et al
. Post-Golgi anterograde transport requires GARP-dependent endosome-to-TGN retrograde transport. Mol Biol Cell. 2015;26:3071-84 pubmed publisher
..Overexpression of TMEM87A or its close homologue TMEM87B in VPS54-KO cells partially restored endosome-to-TGN retrograde transport and anterograde transport...
Hladilkova E, BarÃ¸y T, Fannemel M, Vallova V, Misceo D, Bryn V, et al
. A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms. Mol Cytogenet. 2015;8:57 pubmed publisher
Yu H, Coughlin C, Geiger E, Salvador B, Elias E, Cavanaugh J, et al
. Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. Cold Spring Harb Mol Case Stud. 2016;2:a000844 pubmed publisher
..Whole-exome sequencing (WES) with trio-based analysis was performed and identified a paternally inherited TMEM87B mutation (c.1366A>G, p.Asn456Asp) in the patient...
Russell M, Raeker M, Geisler S, Thomas P, Simmons T, Bernat J, et al
. Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations. Hum Mol Genet. 2014;23:4272-84 pubmed publisher
..b>TMEM87B depletion likewise resulted in cardiac hypoplasia but with preserved branchial arch development...
Li S, Liu P, Xi L, Jiang X, Wu M, Deng D, et al
. Expression of TMEM87B interacting with the human papillomavirus type 18 E6 oncogene in the Hela cDNA library by a yeast two-hybrid system. Oncol Rep. 2008;20:421-7 pubmed
..This study was conducted in order to identify the transmembrane protein 87B (TMEM87B) as a novel binding protein interacting with the HPV18 E6 oncoprotein and to perform an initial ..
Riley K, Catalano L, Bernat J, Adams S, Martin D, Lalani S, et al
. Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes. Am J Med Genet A. 2015;167A:2664-73 pubmed publisher
..However, the reduced penetrance and variable expressivity associated with these recurrent CNVs makes genetic counseling and prediction of outcomes challenging. Â© 2015 Wiley Periodicals, Inc. ..