Gene: NR3C1

Alternate names for this Gene: GCCR|GCR|GCRST|GR|GRL

Gene 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).

Gene is located in Chromosome: 5

Location in Chromosome : 5q31.3

Description of this Gene: nuclear receptor subfamily 3 group C member 1

Type of Gene: protein-coding

rs104893908 in NR3C1 gene and Glucocorticoid Receptor Deficiency PMID 24483153 2014 A novel point mutation of the human glucocorticoid receptor gene causes primary generalized glucocorticoid resistance through impaired interaction with the LXXLL motif of the p160 coactivators: dissociation of the transactivating and transreppressive activities.

PMID 26031419 2015 A novel mutation of the hGR gene causing Chrousos syndrome.

PMID 11589680 2001 Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance.

PMID 1704018 1991 Point mutation causing a single amino acid substitution in the hormone binding domain of the glucocorticoid receptor in familial glucocorticoid resistance.

PMID 23426617 2013 A novel point mutation in the DNA-binding domain (DBD) of the human glucocorticoid receptor causes primary generalized glucocorticoid resistance by disrupting the hydrophobic structure of its DBD.

PMID 7683692 1993 A mutation of the glucocorticoid receptor in primary cortisol resistance.

PMID 17635946 2007 A novel point mutation in helix 11 of the ligand-binding domain of the human glucocorticoid receptor gene causing generalized glucocorticoid resistance.

PMID 15769988 2005 A novel point mutation in the ligand-binding domain (LBD) of the human glucocorticoid receptor (hGR) causing generalized glucocorticoid resistance: the importance of the C terminus of hGR LBD in conferring transactivational activity.

PMID 11701741 2001 Pathologic human GR mutant has a transdominant negative effect on the wild-type GR by inhibiting its translocation into the nucleus: importance of the ligand-binding domain for intracellular GR trafficking.

PMID 26541474 2016 Functional characterization of the hGRαT556I causing Chrousos syndrome.

PMID 27120390 2016 Three Novel Heterozygous Point Mutations of NR3C1 Causing Glucocorticoid Resistance.

PMID 20335448 2010 A novel point mutation in helix 10 of the human glucocorticoid receptor causes generalized glucocorticoid resistance by disrupting the structure of the ligand-binding domain.

PMID 21362280 2011 Generalized glucocorticoid resistance accompanied with an adrenocortical adenoma and caused by a novel point mutation of human glucocorticoid receptor gene.

PMID 12050230 2002 A novel, C-terminal dominant negative mutation of the GR causes familial glucocorticoid resistance through abnormal interactions with p160 steroid receptor coactivators.

rs17100234 in NR3C1 gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs17100234 in NR3C1 gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.