Symbol: Name: ID: |
CCDC50 coiled-coil domain containing 50 GFS:7001 |
Gene name: | CCDC50 |
Chromosome: | 3q28 |
Previous Symbols: | C3orf6, DFNA44 |
Previous Names: | deafness, autosomal dominant 44 |
Aliases: | Ymer |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1914751 | Rat Genome Database ID: | RGD:727841 |
HGNC ID: | HGNC:18111 | RefSeq IDs: | NM_174908 |
Entrez Gene ID: | 152137 | Ensembl Gene ID: | ENSG00000152492 |
VEGA IDs: | OTTHUMG00000156177 | UniProt ID: | Q8IVM0 |
UCSC ID: | uc003fsv.2 | OMIM ID: | 611051 |
Pubmed: | PMID16803894 PMID 17503326 | ||
CCDS IDs: | CCDSCCDS33912.1 CCDS CCDS33913.1 |
Coiled-coil domain-containing protein 50 is a protein that in humans is encoded by the CCDC50 gene.
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].
Function: Involved in EGFR signaling.
Products for CCDC50 gene
Catalog | Product Name | Application | Company |
GFS:E07001 | coiled-coil domain containing 50; ELISA kit | ELISA | n/a |
GFS:A07001 | coiled-coil domain containing 50; Anti | ANTIBODIES | n/a |
GFS:P07001 | coiled-coil domain containing 50; Protien | Protien | n/a |