Gene Symbol: CCDC50
Description: coiled-coil domain containing 50
Alias: C3orf6, DFNA44, YMER, coiled-coil domain-containing protein 50, protein Ymer
Species: human
Products:     CCDC50

Top Publications

  1. Zhang L, Liu X, Zhang X, Chen R. Identification of important long non-coding RNAs and highly recurrent aberrant alternative splicing events in hepatocellular carcinoma through integrative analysis of multiple RNA-Seq datasets. Mol Genet Genomics. 2016;291:1035-51 pubmed publisher
    ..we identified nine highly recurrent differential splicing events belonging to eight genes USO1, RPS24, CCDC50, THNSL2, NUMB, FN1 (two events), SLC39A14 and NR1I3...
  2. Vazza G, Picelli S, Bozzato A, Mostacciuolo M. Identification and characterization of C3orf6, a new conserved human gene mapping to chromosome 3q28. Gene. 2003;314:113-20 pubmed
    This study reports the characterization of a novel human gene, chromosome 3 open reading frame 6 (C3orf6), mapped to chromosome 3q28, within the critical region of hereditary spastic paraplegia SPG14 locus...
  3. Tashiro K, Konishi H, Sano E, Nabeshi H, Yamauchi E, Taniguchi H. Suppression of the ligand-mediated down-regulation of epidermal growth factor receptor by Ymer, a novel tyrosine-phosphorylated and ubiquitinated protein. J Biol Chem. 2006;281:24612-22 pubmed
    ..Among these molecules, we focus on characterizing a novel protein, Ymer, which is a tyrosine-phosphorylated and ubiquitinated protein...
  4. Bohgaki M, Tsukiyama T, Nakajima A, Maruyama S, Watanabe M, Koike T, et al. Involvement of Ymer in suppression of NF-kappaB activation by regulated interaction with lysine-63-linked polyubiquitin chain. Biochim Biophys Acta. 2008;1783:826-37 pubmed
    ..a yeast two-hybrid system to search for proteins interacting with A20, we identified one novel binding protein, Ymer. Ymer, which has been reported to be highly phosphorylated on tyrosine residues via EGF stimulation, bound to ..
  5. Cruchaga C, Kauwe J, Harari O, Jin S, Cai Y, Karch C, et al. GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease. Neuron. 2013;78:256-68 pubmed publisher
    ..67 × 10⁻⁴, 0.039, 4.86 × 10⁻⁵, respectively) illustrating how this endophenotype-based approach can be used to identify new AD risk loci. ..
  6. Tsunematsu T, Yamauchi E, Shibata H, Maki M, Ohta T, Konishi H. Distinct functions of human MVB12A and MVB12B in the ESCRT-I dependent on their posttranslational modifications. Biochem Biophys Res Commun. 2010;399:232-7 pubmed publisher
    ..These results suggest that the expression of MVB12B may be normally suppressed through the ubiquitin-proteasome pathway that simultaneously regulates the fate of MVB12A and the functions of ESCRT-I. ..
  7. Modamio Høybjør S, Moreno Pelayo M, Mencia A, del Castillo I, Chardenoux S, Armenta D, et al. A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29. Hum Genet. 2003;112:24-8 pubmed
    ..36 at theta=0 was obtained for marker D3S1601. Haplotype analysis placed the novel locus, DFNA44, within a 3-cM genetic interval defined by markers D3S1314 and D3S2418...
  8. Farfsing A, Engel F, Seiffert M, Hartmann E, Ott G, Rosenwald A, et al. Gene knockdown studies revealed CCDC50 as a candidate gene in mantle cell lymphoma and chronic lymphocytic leukemia. Leukemia. 2009;23:2018-26 pubmed publisher
    ..CCDC50 (coiled coil domain containing protein 50), SERPINI2 and SMARCC2 mediated a reduction of cell viability in primary CLL cells as well as in ..
  9. Tsukiyama T, Matsuda Tsukiyama M, Bohgaki M, Terai S, Tanaka S, Hatakeyama S. Ymer acts as a multifunctional regulator in nuclear factor-?B and Fas signaling pathways. Mol Med. 2012;18:587-97 pubmed publisher
    ..Previously, we showed that Ymer interacts and collaborates with A20, followed by degradation of receptor-interacting protein (RIP) and attenuation ..

More Information


  1. Smith C, Berry D, McGlade C. The E3 ubiquitin ligases RNF126 and Rabring7 regulate endosomal sorting of the epidermal growth factor receptor. J Cell Sci. 2013;126:1366-80 pubmed publisher
    ..Together these data suggest that RNF126 and Rabring7 play a role in the ubiquitin-dependent sorting and downregulation of membrane receptors. ..
  2. Kim T, Kang Y, Park Z, Kim Y, Hong S, Oh S, et al. SH3RF2 functions as an oncogene by mediating PAK4 protein stability. Carcinogenesis. 2014;35:624-34 pubmed publisher
    ..Taken together, our results suggest that SH3RF2 is an oncogene that may be a definitive regulator of PAK4. Therefore, SH3RF2 may represent an effective therapeutic target for cancer treatment. ..
  3. Xia W, Liu F, Ma D. Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness. Front Med. 2016;10:137-42 pubmed publisher
    ..Only four genetic midfrequency deafness genes, namely, DFNA10 (EYA4), DFNA8/12 (TECTA), DFNA13 (COL11A2), DFNA44 (CCDC50), have been reported to date...
  4. Modamio Hoybjor S, Mencia A, Goodyear R, del Castillo I, Richardson G, Moreno F, et al. A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss. Am J Hum Genet. 2007;80:1076-89 pubmed
    ..We report here on the identification of a mutation in CCDC50 as the cause of hearing loss in the family...
  5. Kameda H, Watanabe M, Bohgaki M, Tsukiyama T, Hatakeyama S. Inhibition of NF-kappaB signaling via tyrosine phosphorylation of Ymer. Biochem Biophys Res Commun. 2009;378:744-9 pubmed publisher
    ..We have reported that Ymer interacts with A20 and lysine (K)-63-linked polyubiquitin chain and that Ymer inhibits NF-kappaB signaling in ..
  6. Blagoev B, Ong S, Kratchmarova I, Mann M. Temporal analysis of phosphotyrosine-dependent signaling networks by quantitative proteomics. Nat Biotechnol. 2004;22:1139-45 pubmed
    ..Global activation profiles provide an informative perspective on cell signaling and will be crucial to modeling signaling networks in a systems biology approach. ..