Gene Symbol: TMEM87B
Description: transmembrane protein 87B
Alias: transmembrane protein 87B
Species: human
Products:     TMEM87B

Top Publications

  1. 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...
  2. Hladilkova E, Barøy 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
  3. 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...
  4. 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...
  5. 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 ..
  6. 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. © 2015 Wiley Periodicals, Inc. ..