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

Danio rerio
ryr3
Mus musculus
Ryr3

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