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NR3C1 (nuclear receptor subfamily 3 group C member 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2908
Gene nameGene Name - the full gene name approved by the HGNC.
Nuclear receptor subfamily 3 group C member 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
NR3C1
SynonymsGene synonyms aliases
GCCR, GCR, GCRST, GR, GRL
ChromosomeChromosome number
5
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q31.3
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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 ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 1894621
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
Sequence length 777
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
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
Causal
Disease name Disease term dbSNP ID References
Atrial fibrillation Atrial Fibrillation rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675 30061737
Congenital adrenal hyperplasia Congenital adrenal hyperplasia rs104894069, rs1365173817, rs104894070, rs556794126, rs104894138, rs104894139, rs104894149, rs104894142, rs104894153, rs6471, rs7769409, rs9378251, rs201552310, rs397509367, rs6445, rs387906510, rs1474566961, rs7755898, rs72552754, rs151344503, rs151344504, rs1582299448, rs1582302625, rs72552757, rs80358217, rs80358220, rs80358221, rs121912974, rs28931607, rs72552772, rs72552771, rs28931608, rs786205875, rs121912976, rs1554299737, rs193922538, rs193922539, rs193922541, rs387907572, rs267606756, rs786204728, rs886038207, rs753774484, rs1554304513, rs1554305880, rs1429901248, rs767128094, rs367634557, rs936203749, rs1563435458, rs754609778, rs1563867837, rs776989258, rs1582298980, rs1582309414, rs1582300748, rs781805159, rs782336856, rs373613946, rs770199817, rs1582304457, rs1582304536, rs1582305275, rs182942340, rs1582307951, rs1367112998, rs1582312633, rs779791105, rs72552758, rs1447069098
Glaucoma Glaucoma, Suspect rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644 17563720
Glucocorticoid resistance syndrome Generalized glucocorticoid resistance syndrome rs104893908, rs587776832, rs121909726, rs104893909, rs104893910, rs104893912, rs121909727
Unknown
Disease name Disease term dbSNP ID References
46, xx disorders of sex development 46, XX Disorders of Sex Development 11932321
Acne Acne
Adrenal hyperplasia Adrenal hyperplasia
Ambiguous genitalia Ambiguous Genitalia rs782562963

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