NR3C1 Nuclear Receptor Subfamily 3 Group C Member 1 - NCBI
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Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation NIH Genetic Testing Registry Search termAll GTRConditions/PhenotypesGenesHuman TestsMicrobe TestsLabsSearchAdvanced search for tests GTR Home > Genes > NR3C1 NR3C1 nuclear receptor subfamily 3 group C member 1Gene ID: 2908, updated on 25-Nov-2025Gene type: protein codingAlso known as: GR; GCR; GRL; GCCR; GCRST- See all available tests in GTR for this gene
- Go to complete Gene record for NR3C1
- Go to Variation Viewer for NR3C1 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide meta-analysis identifies new susceptibility loci for migraine.GeneReviews: Not available | |
| Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.GeneReviews: Not available | |
| Glucocorticoid resistanceMedGen: C1841972OMIM: 615962GeneReviews: Not available | See labs |
Genomic context
Location:5q31.3Sequence: Chromosome: 5; NC_000005.10 (143277931..143435512, complement)Total number of exons:15Genomic Sequence NC_000005 Chromosome 5 Reference GRCh38.p14 Primary Assembly (location A)NC_000005 Chromosome 5 Reference GRCh37.p13 Primary Assembly (location B)NC_060929 Chromosome 5 Alternate T2T-CHM13v2.0 (location A)NG_009062 RefSeqGeneGo to nucleotideGraphics FASTA GenBank
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NR3C1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
Related articles in PubMed
PubMed-OMIMpublications in PubMed explicitly cited by the gene record in OMIM. PubMed Clinical Queriespublications in PubMed limited specific clinical research.All related articles in PubMedsorted by relevance are shown below. Click to see all (1287) citations.- Frequencies of Bcl I, E22E, and N363S of h-GR/NR3C1 restriction fragment length polymorphisms of glucocorticoid receptor gene in Polish adult population.Pietras T, Panek M, Kuprys-Lipinska I, Oszajca K, Wujcik R, Kuna P, Gorski P, Szemraj JPietras T, et al. Med Sci Monit, 2010 Oct. PMID 20885351
- [The analysis of the factors influencing the development of glucocorticoid resistance in the etiopathogenesis of severe bronchial asthma].Panek M, Pietras T, Kupryś-Lipińska I, Górski P, Kuna P, Szemraj JPanek M, et al. Postepy Biochem, 2010. PMID 21473041
- Effects of chronic academic stress on mental state and expression of glucocorticoid receptor α and β isoforms in healthy Japanese medical students.Kurokawa K, Tanahashi T, Murata A, Akaike Y, Katsuura S, Nishida K, Masuda K, Kuwano Y, Kawai T, Rokutan KKurokawa K, et al. Stress, 2011 Jul. PMID 21438768
- Glucocorticoid receptor haplotype is associated with a decreased risk of delirium in the elderly.Manenschijn L, van Rossum EF, Jetten AM, de Rooij SE, van Munster BCManenschijn L, et al. Am J Med Genet B Neuropsychiatr Genet, 2011 Apr. PMID 21438141
- The dominant negative β isoform of the glucocorticoid receptor is uniquely expressed in erythroid cells expanded from polycythemia vera patients.Varricchio L, Masselli E, Alfani E, Battistini A, Migliaccio G, Vannucchi AM, Zhang W, Rondelli D, Godbold J, Ghinassi B, Whitsett C, Hoffman R, Migliaccio ARVarricchio L, et al. Blood, 2011 Jul 14. PMID 21355091
Content on this page
- Summary
- Associated conditions
- Genomic context
- Variation
- Related articles in PubMed
Links
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- NR3C1 database
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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