LongevityMap Gene

Gene details

HGNC symbol
GABRR3 
Aliases
 
Common name
gamma-aminobutyric acid type A receptor rho3 subunit (gene/pseudogene) 
Description
The neurotransmitter gamma-aminobutyric acid (GABA) functions in the central nervous system to regulate synaptic transmission of neurons. This gene encodes one of three related subunits, which combine as homo- or hetero-pentamers to form GABA(C) receptors. In humans, some individuals contain a single-base polymorphism (dbSNP rs832032) that is predicted to inactivate the gene product. [provided by RefSeq, Jan 2012]
Cytogenetic Location
3q11.2
UCSC Genome Browser
View 3q11.2 on the UCSC genome browser
OMIM
Ensembl
ENSG00000183185
UniProt/Swiss-Prot
GBRR3_HUMAN
Entrez Gene
200959
UniGene
534578
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
zgc:194845
Mus musculus
Gabrr3
Rattus norvegicus
Gabrr3

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
Ashkenazi Jewish
Study Design
Next-generation sequencing was employed to identify novel variants in 988 candidate genes in 6 centenarians, revealing 89 novel non-synonymous SNPs. These were genotyped in 410 Ashkenazi Jewish controls and 390 centenarians.
Conclusions
Without correcting for multiple testing, the p.Y318C variant in PMS2 was significantly enriched while the p.V465A variant in GABRR3 was significantly depleted in centenarians
Indentifier
p.V465A
Reference