CCDC50

Also known as C3orf6, DFNA44, YMER, coiled-coil domain containing 50

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

In the Vinony graph

Vinony's link graph records 3 inbound references to CCDC50, and connects out to PubMed, human chromosome 3 and Ensembl genome database project.

It is catalogued under the topic Genes on human chromosome 3.

Vinony links it to 5 Wikipedia language editions.

Gene data

CCDC50

Name: coiled-coil domain containing 50
Type: protein-coding
Position: 191,329,022–191,398,659 (+)
Aliases: C3orf6, DFNA44, YMER
Ensembl: ENSG00000152492
RefSeq RNA: NM_174908.4, NM_178335.3, XM_011512460.2, XM_054345382.1
RefSeq protein: NP_777568.1, NP_848018.1, XP_011510762.1, XP_054201357.1

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].