Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2908
Gene name Gene Name - the full gene name approved by the HGNC.
Nuclear receptor subfamily 3 group C member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NR3C1
Synonyms (NCBI Gene) Gene synonyms aliases
GCCR, GCR, GCRST, GR, GRL
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q31.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 factor Regulation Reference
CLOCK Repression 21164265
HIF1A Unknown 15699159
MYB Unknown 22516378
NR3C1 Unknown 22516378
TFAP2A Activation 7794935
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
138040 7978 ENSG00000113580
Protein
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Glucocorticoid Resistance Syndrome Glucocorticoid resistance, Glucocorticoid resistance, cellular rs121909727, rs104893908, rs587776832, rs121909726, rs104893909, rs104893910, rs104893912 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Breast Cancer Breast cancer N/A N/A GWAS
Heart Failure Heart failure N/A N/A GWAS
Hypertension Hypertension (confirmatory factor analysis Factor 12) N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abdominal Injuries Associate 22587831
Abdominal Pain Associate 27038676
ACTH Secreting Pituitary Adenoma Associate 36640905
Acute Coronary Syndrome Associate 32218512
Acute On Chronic Liver Failure Inhibit 31628069
Acute Pain Associate 30079801
Addison Disease Associate 22587831
Adenocarcinoma Associate 33494362, 34417596
Adenocarcinoma of Lung Associate 26402252, 30375484
Adenoma Associate 17167179, 23196783, 23548621, 24472434, 9506748