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Coiled-coil domain containing 50

This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] (from NCBI)
Top mentioned proteins: NF-kappaB, IgE, FGF12, Epidermal Growth Factor, MEN
Papers on CCDC50
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.
Chen et al., Beijing, China. In Mol Genet Genomics, Jan 2016
With regard to splicing alterations, we identified nine highly recurrent differential splicing events belonging to eight genes USO1, RPS24, CCDC50, THNSL2, NUMB, FN1 (two events), SLC39A14 and NR1I3.
Genome-wide scan on total serum IgE levels identifies no common variants in a healthy Chinese male population.
Mo et al., Nanning, China. In Immunogenetics, 2013
Rs432085 from chromosome 3p28 is located in the gene CCDC50.
Ymer acts as a multifunctional regulator in nuclear factor-κB and Fas signaling pathways.
Hatakeyama et al., Sapporo, Japan. In Mol Med, 2011
Ymer acts as a regulator downstream of several receptors and that Ymer functions as a positive or negative regulator in a signaling pathway-dependent manner.
Gene knockdown studies revealed CCDC50 as a candidate gene in mantle cell lymphoma and chronic lymphocytic leukemia.
Pscherer et al., Heidelberg, Germany. In Leukemia, 2009
CCDC50 is required for survival in mantle cell lymphoma and chronic lymphocytic leukemia cells and controls NFkappaB signaling
A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb.
Renieri et al., Siena, Italy. In Eur J Med Genet, 2009
Two genes, OPA1 and CCDC50, responsible for autosomal dominant optic atrophy and deafness, respectively, may be important for the correct follow-up of the patient.
Inhibition of NF-kappaB signaling via tyrosine phosphorylation of Ymer.
Hatakeyama et al., Sapporo, Japan. In Biochem Biophys Res Commun, 2009
These findings demonstrate that Ymer is likely to be a negative regulator for the NF-kappaB signaling pathway.
A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss.
Moreno-Pelayo et al., Madrid, Spain. In Am J Hum Genet, 2007
CCDC50 encodes Ymer, an effector of epidermal growth factor (EGF)-mediated cell signaling that is ubiquitously expressed in different organs and has been suggested to inhibit down-regulation of the EGF receptor.
Suppression of the ligand-mediated down-regulation of epidermal growth factor receptor by Ymer, a novel tyrosine-phosphorylated and ubiquitinated protein.
Taniguchi et al., Tokushima, Japan. In J Biol Chem, 2006
Ymer functions as a novel inhibitor for the down-regulation of the EGF receptor and plays a crucial role for regulating the amount of the EGF receptor on the cell surface membrane
A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29.
Moreno et al., Madrid, Spain. In Hum Genet, 2003
identification of a novel DFNA locus on chromosome 3q28-29 in a Spanish family with postlingual and progressive hearing loss[DFNA44]
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