LongevityMap Gene

Gene details

HGNC symbol
CCDC50 
Aliases
YMER; C3orf6; DFNA44 
Common name
coiled-coil domain containing 50 
Description
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]
Cytogenetic Location
3q28
UCSC Genome Browser
View 3q28 on the UCSC genome browser
OMIM
611051
Ensembl
ENSG00000152492
UniProt/Swiss-Prot
CCD50_HUMAN
Entrez Gene
152137
UniGene
478682
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
uncharacterized_F1R8
Mus musculus
Ccdc50
Rattus norvegicus
Ccdc50

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
Dutch
Study Design
Genome-wide association study in 403 unrelated nonagenarians from long-living families and 1670 younger controls. Strongest candidates were then investigated in a meta-analysis of 4149 nonagenarian cases and 7582 younger controls.
Conclusions
No SNP reached significance in the GWAS but 62 SNPs, many in genes, had an indicative association with survival into old age. Of these 62 SNPs then studied in the meta-analysis, 61 were not significant.
Indentifier
rs9827142
Reference