LongevityMap variant

Entry Details

Longevity Association
Non-significant
Population
Dutch
Study Design
552 participants aged 85 years and over were genotyped for the ER22/23EK, N363S and BclI polymorphisms
Conclusions
No associations with cardiovascular pathologies, all cause and cardiovascular mortality were observed for any of the polymorphisms.
Identifier
ER22/23EK
In Other Studies (IDs)
158
Cytogenetic Location
5q31.3
UCSC Genome Browser
View 5q31.3 on the UCSC genome browser

Gene details

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

Homologs in model organisms

Danio rerio
nr3c1
Mus musculus
Nr3c1
Rattus norvegicus
Nr3c1

In other databases

GenAge human genes
  • This gene is present as NR3C1

References

Kuningas et al. (2006)

Other variants which are also part of this study