LongevityMap Gene

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]
Cytogenetic Location
5q31.3
UCSC Genome Browser
View 5q31.3 on the UCSC genome browser
OMIM
138040
Ensembl
ENSG00000113580
UniProt/Swiss-Prot
B7Z7I2_HUMAN
Entrez Gene
2908
UniGene
122926
1000 Genomes
1000 Genomes

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

Studies (3)

Significant/Non-significant: 2/1

Study 1

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.
Indentifier
ER22/23EK
Reference

    Study 2

    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.
    Indentifier
    ER22/23EK
    Reference

      Study 3

      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
      rs2963154
      Reference