Version: 8.0.0Date: Tue Jan 28 2025
Gene
NR3C1
- Species
- Homo sapiens
- Symbol
- NR3C1
- Name
- nuclear receptor subfamily 3 group C member 1
- Synonyms
- GCCR
- GCR
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including DNA-binding transcription factor activity, RNA polymerase II-specific; Hsp90 protein binding activity; and transcription cis-regulatory region binding activity. Involved in cellular response to dexamethasone stimulus; cellular response to transforming growth factor beta stimulus; and regulation of DNA-templated transcription. Located in cytosol and nuclear speck. Part of protein-containing complex. Is active in nucleus. Implicated in several diseases, including alcohol dependence; anorexia nervosa; heroin dependence; lung disease (multiple); and nicotine dependence. Biomarker of several diseases, including cocaine abuse; lung disease (multiple); lupus nephritis; nephrotic syndrome (multiple); and obstructive sleep apnea.
- RGD 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR48092
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr5:143277931...143435512 - (157.58 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.