Gene Gene information from NCBI Gene database.
Entrez ID 2908
Gene name Nuclear receptor subfamily 3 group C member 1
Gene symbol NR3C1
Synonyms (NCBI Gene)
GCCRGCRGCRSTGRGRL
Chromosome 5
Chromosome location 5q31.3
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 tr
SNPs SNP information provided by dbSNP.
11
SNP ID Visualize variation Clinical significance Consequence
rs6189 C>A,T Benign-likely-benign, pathogenic Genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, missense variant, coding sequence variant, intron variant, synonymous variant
rs104893908 T>A Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs104893909 A>T Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs104893910 A>C,G Pathogenic Missense variant, intron variant, coding sequence variant, non coding transcript variant, synonymous variant, genic downstream transcript variant
rs104893911 A>G Pathogenic Coding sequence variant, non coding transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
661
miRTarBase ID miRNA Experiments Reference
MIRT004545 hsa-miR-18a-5p Luciferase reporter assay 19131573
MIRT004546 hsa-miR-124-3p Luciferase reporter assay 19131573
MIRT004545 hsa-miR-18a-5p Western blot 19131573
MIRT004546 hsa-miR-124-3p Western blot 19131573
MIRT004545 hsa-miR-18a-5p pMIR-REPORT 19131573
Transcription factors Transcription factors information provided by TRRUST V2 database.
6
Transcription factor Regulation Reference
CLOCK Repression 21164265
HIF1A Unknown 15699159
MYB Unknown 22516378
NR3C1 Unknown 22516378
TFAP2A Activation 7794935
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
102
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 1894621
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 12902338
GO:0000785 Component Chromatin IBA
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 1894621
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
138040 7978 ENSG00000113580
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P04150
Protein name Glucocorticoid receptor (GR) (Nuclear receptor subfamily 3 group C member 1)
Protein function Receptor for glucocorticoids (GC) (PubMed:27120390, PubMed:37478846). Has a dual mode of action: as a transcription factor that binds to glucocorticoid response elements (GRE), both for nuclear and mitochondrial DNA, and as a modulator of other
PDB 1M2Z , 1NHZ , 1P93 , 3BQD , 3CLD , 3E7C , 3H52 , 3K22 , 3K23 , 4CSJ , 4HN5 , 4HN6 , 4LSJ , 4MDD , 4P6W , 4P6X , 4UDC , 4UDD , 5CBX , 5CBY , 5CBZ , 5CC1 , 5E69 , 5E6A , 5E6B , 5E6C , 5E6D , 5EMC , 5EMP , 5EMQ , 5G3J , 5G5W , 5NFP , 5NFT , 5UC1 , 5UC3 , 5VA0 , 5VA7 , 6BQU , 6CFN , 6DXK , 6EL6 , 6EL7 , 6EL9 , 6X6D , 6X6E , 6YMO , 6YO8 , 6YOS , 7KRJ , 7KW7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02155 GCR 26 401 Glucocorticoid receptor Family
PF00105 zf-C4 419 488 Zinc finger, C4 type (two domains) Domain
PF00104 Hormone_recep 549 741 Ligand-binding domain of nuclear hormone receptor Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed including bone, stomach, lung, liver, colon, breast, ovary, pancreas and kidney (PubMed:25847991). In the heart, detected in left and right atria, left and right ventricles, aorta, apex, intraventricular septum, and at
Sequence
Sequence length 777
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Neuroactive ligand-receptor interaction   HSP90 chaperone cycle for steroid hormone receptors (SHR)
Nuclear Receptor transcription pathway
SUMOylation of intracellular receptors
PTK6 Expression
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
55
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Glucocorticoid resistance Likely pathogenic; Pathogenic rs770466966, rs104893908, rs587776832, rs104893909, rs104893910, rs104893912, rs121909727 RCV003135489
RCV000017529
RCV000017530
RCV000017533
RCV000017534
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GLUCOCORTICOID RESISTANCE, ATYPICAL Pathogenic rs104893911 RCV000017535
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GLUCOCORTICOID RESISTANCE, CELLULAR Pathogenic rs121909726 RCV000017531
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANOREXIA NERVOSA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FLUTTER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
46, XX Disorders of Sex Development 46, XX Disorders of Sex Development CTD_human_DG 11932321
★☆☆☆☆
Found in Text Mining only
Acne Acne HPO_DG
★☆☆☆☆
Found in Text Mining only
ACTH Syndrome, Ectopic Ectopic ACTH secretion syndrome BEFREE 20015838, 8396510
★☆☆☆☆
Found in Text Mining only
Acth-Independent Macronodular Adrenal Hyperplasia Cushing`s Syndrome BEFREE 30915117
★☆☆☆☆
Found in Text Mining only
ACTH-Secreting Pituitary Adenoma Pituitary adenoma BEFREE 12390341, 19207316, 22570980, 8550738
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 30408722
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 10766198, 11069204, 12886242, 15462611, 15704223, 16266991, 17077285, 18385010, 18789525, 20170710, 20354172, 21497906, 22074950, 22739263, 24895125
View all (10 more)
★☆☆☆☆
Found in Text Mining only
Acute Undifferentiated Leukemia Leukemia BEFREE 18096310, 27060168
★☆☆☆☆
Found in Text Mining only
Addison Disease Addison`s Disease BEFREE 16118334, 22587831, 23134110, 23239757, 24466047, 28954735
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 18269582, 29126175
★☆☆☆☆
Found in Text Mining only