NR3C1 nuclear receptor subfamily 3 group C member 1
Gene ID: 2908, updated on 16-Apr-2024Gene type: protein coding
Also known as: GR; GCR; GRL; GCCR; GCRST
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- 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 resistance | See labs |
Genomic context
- Location:
- 5q31.3
- Sequence:
- Chromosome: 5; NC_000005.10 (143277931..143435512, complement)
- Total number of exons:
- 15
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 |
- 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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