LongevityMap Gene
Gene details
- HGNC symbol
- RYR3
- Aliases
- RYR-3
- Common name
- ryanodine receptor 3
- Description
- The protein encoded by this gene is a ryanodine receptor, which functions to release calcium from intracellular storage for use in many cellular processes. For example, the encoded protein is involved in skeletal muscle contraction by releasing calcium from the sarcoplasmic reticulum followed by depolarization of T-tubules. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
- Cytogenetic Location
- 15q13.3-q14
- UCSC Genome Browser
- View 15q13.3-q14 on the UCSC genome browser
- OMIM
- 180903
- Ensembl
- ENSG00000198838
- UniProt/Swiss-Prot
- A0A0U1RRH1_HUMAN
- Entrez Gene
- 6263
- UniGene
- 709373
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
Studies (1)
Significant/Non-significant: 1/0
- 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
- rs2596230
- Reference