LongevityMap variant

Entry Details

Longevity Association: Significant
Population: Dutch
Study Design: The ER22/23EK polymorphism was studied in 402 men with a mean age of 77.8 years
Conclusions: After a follow-up of 4 years, 73 (19%) of 381 noncarriers died, while none of the 21 ER22/23EK carriers had died. Carriers may have lower C-reactive protein levels.

HGNC symbol: NR3C1
Aliases: GR; GCR; GRL; GCCR; GCRST
Common name: nuclear receptor subfamily 3 group C member 1
Description: This gene encodes glucocorticoid receptor, which can function both as a transcription factor that binds to glucocorticoid response elements in the promoters of glucocorticoid responsive genes to activate their transcription, and as a regulator of other transcription factors. This receptor is typically found in the cytoplasm, but upon ligand binding, is transported into the nucleus. It is involved in inflammatory responses, cellular proliferation, and differentiation in target tissues. Mutations in this gene are associated with generalized glucocorticoid resistance. Alternative splicing of this gene results in transcript variants encoding either the same or different isoforms. Additional isoforms resulting from the use of alternate in-frame translation initiation sites have also been described, and shown to be functional, displaying diverse cytoplasm-to-nucleus trafficking patterns and distinct transcriptional activities (PMID:15866175). [provided by RefSeq, Feb 2011]
Other longevity studies of this gene: 4
OMIM: 138040
Ensembl: ENSG00000113580
UniProt/Swiss-Prot: B7Z7I2_HUMAN
Entrez Gene: 2908
UniGene: 122926
HapMap: View on HapMap

GenAge human genes

van Rossum et al. (2004)