LongevityMap Gene
Gene details
- HGNC symbol
- CTNNA3
- Aliases
- VR22; ARVD13
- Common name
- catenin alpha 3
- Description
- This gene encodes a protein that belongs to the vinculin/alpha-catenin family. The encoded protein plays a role in cell-cell adhesion in muscle cells. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia, familial 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
- Cytogenetic Location
- 10q21.3
- UCSC Genome Browser
- View 10q21.3 on the UCSC genome browser
- OMIM
- 607667
- Ensembl
- ENSG00000183230
- UniProt/Swiss-Prot
- A8K141_HUMAN
- Entrez Gene
- 29119
- UniGene
- 21375
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
Studies (2)
Significant/Non-significant: 1/1
Study 1
- Longevity Association
- Non-significant
- Population
- German
- Study Design
- Genome-wide association study comparing 664,472 autosomal SNPs in 763 long-lived individuals (mean age: 99.7 years) and 1085 controls (mean age: 60.2 years). Top SNPs from the GWAS were further investigated in an independent German sample comprised of 754 long-lived individuals (mean age: 96.9 years) and 860 controls (mean age: 67.3 years).
- Conclusions
- Thirty-two SNPs previously associated with longevity were not associated with longevity in this study
- Indentifier
- rs16922827
- Reference
Study 2
- Longevity Association
- Significant
- Population
- American (Caucasian)
- Study Design
- Genome-wide association study in 801 centenarians and 914 healthy controls
- Conclusions
- 281 SNPs were found to discriminate between cases and controls
- Indentifier
- rs10509271
- Reference