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
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