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.
- Identifier
- ER22/23EK
- In Other Studies (IDs)
- 448
- 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
In other databases
- GenAge human genes
- This gene is present as NR3C1