LongevityMap Gene
Gene details
- HGNC symbol
- CDH23
- Aliases
- USH1D; CDHR23
- Common name
- cadherin related 23
- Description
- This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, May 2013]
- Cytogenetic Location
- 10q22.1
- UCSC Genome Browser
- View 10q22.1 on the UCSC genome browser
- OMIM
- 605516
- Ensembl
- ENSG00000107736
- UniProt/Swiss-Prot
- A0A087WYR8_HUMAN
- Entrez Gene
- 64072
- UniGene
- 656032
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
Studies (1)
Significant/Non-significant: 0/1
- Longevity Association
- Non-significant
- Population
- Italian
- Study Design
- Genome-wide association study on 410 long-living individuals (age range, 90–109 years) and 553 young control individuals (age range, 18–48 years) using 318,237 SNPs. An independent population with 116 long-lived individuals and 160 controls was used for replication purposes.
- Conclusions
- A total of 67 SNPs were identified with an indication of potentially being associated with longevity (p < 1 × 10−4), though 66 were not further validated
- Indentifier
- rs7915479
- Reference