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
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