CCDC50

Coiled-coil domain-containing protein 50 is a protein that in humans is encoded by the CCDC50 gene.

CCDC50
Identifiers
Aliases	CCDC50, C3orf6, DFNA44, YMER, coiled-coil domain containing 50
External IDs	OMIM: 611051; MGI: 1914751; HomoloGene: 32655; GeneCards: CCDC50; OMA:CCDC50 - orthologs
Gene location (Human) Chr. Chromosome 3 (human) Band 3q28 Start 191,329,085 bp End 191,398,659 bp
Gene location (Mouse) Chr. Chromosome 16 (mouse) Band 16 B2|16 18.98 cM Start 27,207,619 bp End 27,270,968 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of ileum Achilles tendon skin of arm smooth muscle tissue tibialis anterior muscle cardiac muscle tissue of right atrium sperm adipose tissue myocardium of left ventricle pancreatic epithelial cell Top expressed in tail of embryo genital tubercle molar renal corpuscle medullary collecting duct vestibular sensory epithelium extensor digitorum longus muscle aortic valve ascending aorta vestibular membrane of cochlear duct More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding ubiquitin protein ligase binding Cellular component cytoplasm cytosol Biological process hearing Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 152137 67501 Ensembl ENSG00000152492 ENSMUSG00000038127 UniProt Q8IVM0 Q810U5 RefSeq (mRNA) NM_174908 NM_178335 NM_001025615 NM_001289436 NM_026202 RefSeq (protein) NP_777568 NP_848018 NP_001020786 NP_001276365 NP_080478 Location (UCSC) Chr 3: 191.33 – 191.4 Mb Chr 16: 27.21 – 27.27 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

External links

• Human CCDC50 genome location and CCDC50 gene details page in the UCSC Genome Browser.

Further reading

• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Modamio-Høybjør S, Moreno-Pelayo MA, Mencía A, et al. (2003). "A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29". Hum. Genet. 112 (1): 24–8. doi:10.1007/s00439-002-0836-x. PMID 12483295. S2CID 8152410.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Blagoev B, Ong SE, Kratchmarova I, Mann M (2005). "Temporal analysis of phosphotyrosine-dependent signaling networks by quantitative proteomics". Nat. Biotechnol. 22 (9): 1139–45. doi:10.1038/nbt1005. PMID 15314609. S2CID 11707801.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Zhang Y, Wolf-Yadlin A, Ross PL, et al. (2005). "Time-resolved mass spectrometry of tyrosine phosphorylation sites in the epidermal growth factor receptor signaling network reveals dynamic modules". Mol. Cell. Proteomics. 4 (9): 1240–50. doi:10.1074/mcp.M500089-MCP200. PMID 15951569.
• Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.
• Modamio-Hoybjor S, Mencia A, Goodyear R, et al. (2007). "A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss". Am. J. Hum. Genet. 80 (6): 1076–89. doi:10.1086/518311. PMC 1867096. PMID 17503326.