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 nucl... See more...

Aliases for NR3C1 Gene

Aliases for NR3C1 Gene

  • GeneCards Symbol: NR3C1 2
  • Nuclear Receptor Subfamily 3 Group C Member 1 2 3 4 5
  • GR 2 3 4 5
  • Glucocorticoid Receptor 2 3 4
  • GRL 3 4 5
  • Nuclear Receptor Subfamily 3, Group C, Member 1 (Glucocorticoid Receptor) 2 3
  • Nuclear Receptor Subfamily 3 Group C Member 1 Variant HGR-B(54) 3
  • Nuclear Receptor Subfamily 3 Group C Member 1 Variant HGR-B(77) 3
  • Nuclear Receptor Subfamily 3 Group C Member 1 Variant HGR-B(93) 3
  • Nuclear Receptor Subfamily 3, Group C, Member 1 2
  • GCRST 3
  • GCCR 3
  • GCR 3

External Ids for NR3C1 Gene

Previous HGNC Symbols for NR3C1 Gene

  • GRL

Previous GeneCards Identifiers for NR3C1 Gene

  • GC05M142559
  • GC05M143241
  • GC05M142687
  • GC05M142639
  • GC05M137804

Summaries for NR3C1 Gene

Entrez Gene Summary for NR3C1 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 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]

GeneCards Summary for NR3C1 Gene

NR3C1 (Nuclear Receptor Subfamily 3 Group C Member 1) is a Protein Coding gene. Diseases associated with NR3C1 include Glucocorticoid Resistance, Generalized and Acth-Secreting Pituitary Adenoma. Among its related pathways are Prolactin Signaling and Disease. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II cis-regulatory region sequence-specific DNA binding. An important paralog of this gene is NR3C2.

UniProtKB/Swiss-Prot Summary for NR3C1 Gene

Receptor for glucocorticoids (GC) (PubMed:27120390). 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 transcription factors. Affects inflammatory responses, cellular proliferation and differentiation in target tissues. Involved in chromatin remodeling (PubMed:9590696). Plays a role in rapid mRNA degradation by binding to the 5' UTR of target mRNAs and interacting with PNRC2 in a ligand-dependent manner which recruits the RNA helicase UPF1 and the mRNA-decapping enzyme DCP1A, leading to RNA decay (PubMed:25775514). Could act as a coactivator for STAT5-dependent transcription upon growth hormone (GH) stimulation and could reveal an essential role of hepatic GR in the control of body growth (By similarity). ( GCR_HUMAN,P04150 )

[Isoform Alpha]: Has transcriptional activation and repression activity (PubMed:15866175, 19248771, 20484466, 23820903, 11435610, 15769988, 17635946, 19141540, 21664385). Mediates glucocorticoid-induced apoptosis (PubMed:23303127). Promotes accurate chromosome segregation during mitosis (PubMed:25847991). May act as a tumor suppressor (PubMed:25847991). May play a negative role in adipogenesis through the regulation of lipolytic and antilipogenic gene expression (By similarity). ( GCR_HUMAN,P04150 )

[Isoform Beta]: Acts as a dominant negative inhibitor of isoform Alpha (PubMed:7769088, 8621628, 20484466). Has intrinsic transcriptional activity independent of isoform Alpha when both isoforms are coexpressed (PubMed:19248771, 26711253). Loses this transcription modulator function on its own (PubMed:20484466). Has no hormone-binding activity (PubMed:8621628). May play a role in controlling glucose metabolism by maintaining insulin sensitivity (By similarity). Reduces hepatic gluconeogenesis through down-regulation of PEPCK in an isoform Alpha-dependent manner (PubMed:26711253). Directly regulates STAT1 expression in isoform Alpha-independent manner (PubMed:26711253). ( GCR_HUMAN,P04150 )

[Isoform Alpha-2]: Has lower transcriptional activation activity than isoform Alpha. Exerts a dominant negative effect on isoform Alpha trans-repression mechanism (PubMed:20484466). ( GCR_HUMAN,P04150 )

[Isoform GR-P]: Increases activity of isoform Alpha. ( GCR_HUMAN,P04150 )

[Isoform Alpha-B]: More effective than isoform Alpha in transcriptional activation, but not repression activity. ( GCR_HUMAN,P04150 )

[Isoform 10]: Has transcriptional activation activity. ( GCR_HUMAN,P04150 )

[Isoform Alpha-C1]: Has transcriptional activation activity. ( GCR_HUMAN,P04150 )

[Isoform Alpha-C2]: Has transcriptional activation activity. ( GCR_HUMAN,P04150 )

[Isoform Alpha-C3]: Has highest transcriptional activation activity of all isoforms created by alternative initiation (PubMed:15866175, 23820903). Has transcriptional repression activity (PubMed:23303127). Mediates glucocorticoid-induced apoptosis (PubMed:23303127, 23820903). ( GCR_HUMAN,P04150 )

[Isoform Alpha-D1]: Has transcriptional activation activity. ( GCR_HUMAN,P04150 )

[Isoform Alpha-D2]: Has transcriptional activation activity. ( GCR_HUMAN,P04150 )

[Isoform Alpha-D3]: Has lowest transcriptional activation activity of all isoforms created by alternative initiation (PubMed:15866175, 23820903). Has transcriptional repression activity (PubMed:23303127). ( GCR_HUMAN,P04150 )

Tocris Summary for NR3C1 Gene

  • Glucocorticoid receptors (GRs) are nuclear hormone receptors of the NR3C class, which also includes mineralocorticoid, progesterone and androgen receptors. They exist as homodimers coupled to Hsp90 or HMGB proteins, which are shed upon activation.

Gene Wiki entry for NR3C1 Gene

No data available for CIViC Summary , PharmGKB Summary , Rfam classification and piRNA Summary for NR3C1 Gene

Genomics for NR3C1 Gene

GeneHancer (GH) Regulatory Elements (see citations)

Promoters and enhancers for NR3C1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J143394 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 263.90 556.24 +35.0 5 12.2 HCFC1 ZNF580 POLR2A ATF2 SIX5 KLF17 ATF3 CTCF ZNF600 ZIC2 NR3C1 KU921432 RPL7P21 YIPF5 lnc-ARHGAP26-9 U01351 ARHGAP26
GH05J143433 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 250.70 373.21 +0.7 0 2.5 SP1 POLR2A BCL11A CEBPG CEBPA ZNF207 CEBPB MAZ RCOR1 CHD1 NR3C1 lnc-FGF1-8 ARHGAP26
GH05J143001 Promoter/Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 27.30 39.19 +431.9 37 5.2 SP1 POLR2A JUND CTCF BCL11A CEBPG REST ZNF592 MAZ CEBPB piR-42799-017 NR3C1 ARHGAP26 piR-38005-047
GH05J143007 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 22.00 32.76 +426.0 36 3.1 SP1 BCL11A ZNF207 ZNF592 CTCF TRIM22 ZMYM3 REST CHD4 IRF4 HSALNG0045523 ARHGAP26 NR3C1 piR-42799-017
GH05J143493 Enhancer 1.1 FANTOM5 Ensembl ENCODE 26.10 29.1 -60.0 1 3.4 JUND CEBPG YY1 CEBPA NFIC CEBPB EP300 HOMEZ FEZF1 STAT3 NR3C1 RF00998-111 ENSG00000249429 HSALNG0045544 HMHB1

GeneHancers around NR3C1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NR3C1

Top Transcription factor binding sites by QIAGEN in the NR3C1 gene promoter:
  • AP-1

Genomic Locations for NR3C1 Gene

Latest Assembly
chr5:143,277,931-143,435,512
(GRCh38/hg38)
Size:
157,582 bases
Orientation:
Minus strand

Previous Assembly
chr5:142,657,496-142,815,077
(GRCh37/hg19 by Entrez Gene)
Size:
157,582 bases
Orientation:
Minus strand

chr5:142,657,496-142,815,077
(GRCh37/hg19 by Ensembl)
Size:
157,582 bases
Orientation:
Minus strand

Genomic View for NR3C1 Gene

Genes around NR3C1 on UCSC Golden Path with GeneCards custom tracks (GRCh38/hg38, GRCh37/hg19)

Cytogenetic band:
NR3C1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NR3C1 Gene
Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NR3C1 Gene

Proteins for NR3C1 Gene

  • Protein details for NR3C1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04150-GCR_HUMAN
    Recommended name:
    Glucocorticoid receptor
    Protein Accession:
    P04150
    Secondary Accessions:
    • A0ZXF9
    • B0LPG8
    • D3DQF4
    • F5ATB7
    • P04151
    • Q53EP5
    • Q6N0A4

    Protein attributes for NR3C1 Gene

    Size:
    777 amino acids
    Molecular mass:
    85659 Da
    Quaternary structure:

    • Heteromultimeric cytoplasmic complex with HSP90AA1, HSPA1A/HSPA1B, and FKBP5 or another immunophilin such as PPID, STIP1, or the immunophilin homolog PPP5C (PubMed:21730050).
      Upon ligand binding FKBP5 dissociates from the complex and FKBP4 takes its place, thereby linking the complex to dynein and mediating transport to the nucleus, where the complex dissociates (By similarity).
      Probably forms a complex composed of chaperones HSP90 and HSP70, co-chaperones CDC37, PPP5C, TSC1 and client protein TSC2, CDK4, AKT, RAF1 and NR3C1; this complex does not contain co-chaperones STIP1/HOP and PTGES3/p23 (PubMed:29127155).
      Directly interacts with UNC45A (PubMed:16478993).
      Binds to DNA as a homodimer, and as heterodimer with NR3C2 or the retinoid X receptor.
      Binds STAT5A and STAT5B homodimers and heterodimers (By similarity).
      Interacts with NRIP1, POU2F1, POU2F2 and TRIM28 (By similarity).
      Interacts with several coactivator complexes, including the SMARCA4 complex, CREBBP/EP300, TADA2L (Ada complex) and p160 coactivators such as NCOA2 and NCOA6 (PubMed:10866662, 12151000, 12686538, 9154805, 9590696).
      Interaction with BAG1 inhibits transactivation (PubMed:10477749).
      Interacts with HEXIM1 and TGFB1I1 (PubMed:12415108, 15211577, 15941832).
      Interacts with NCOA1 (PubMed:9590696).
      Interacts with NCOA3, SMARCA4, SMARCC1, SMARCD1, and SMARCE1 (By similarity).
      Interacts with CLOCK, CRY1 and CRY2 in a ligand-dependent fashion (PubMed:19141540, 21980503, 22170608).
      Interacts with CIART (By similarity).
      Interacts with RWDD3 (By similarity).
      Interacts with UBE2I/UBC9 and this interaction is enhanced in the presence of RWDD3 (By similarity).
      Interacts with GRIP1 (PubMed:15769988, 17635946).
      Interacts with NR4A3 (via nuclear receptor DNA-binding domain), represses transcription activity of NR4A3 on the POMC promoter Nur response element (NurRE) (PubMed:15591535).
      Directly interacts with PNRC2 to attract and form a complex with UPF1 and DCP1A; the interaction leads to rapid mRNA degradation (PubMed:25775514).
      Interacts with GSK3B (PubMed:18838540).
      Interacts with FNIP1 and FNIP2 (PubMed:27353360).
      Interacts (via C-terminus) with HNRNPU (via C-terminus) (PubMed:9353307).
      Interacts with MCM3AP (PubMed:16914116).
      Interacts (via domain NR LBD) with HSP90AA1 and HSP90AB1 (By similarity).
      In the absence of hormonal ligand, interacts with TACC1 (PubMed:20078863).
    Miscellaneous:

    • [Isoform Beta]: High constitutive expression by neutrophils may provide a mechanism by which these cells escape glucocorticoid-induced cell death and up-regulation by pro-inflammatory cytokines such as IL8 further enhances their survival in the presence of glucocorticoids during inflammation.
    • Can up- or down-modulate aggregation and nuclear localization of expanded polyglutamine polypeptides derived from AR and HD through specific regulation of gene expression.
      Aggregation and nuclear localization of expanded polyglutamine proteins are regulated cellular processes that can be modulated by this receptor, a well-characterized transcriptional regulator.
    • [Isoform Alpha]: Predominant physiological form.
    • [Isoform Alpha-2]: Due to a partial intron retention.
    • [Isoform Beta-2]: Due to a partial intron retention.
    • [Isoform GR-A alpha]: Lacks exons 5, 6 and 7.
      Found in glucocorticoid-resistant myeloma patients.
    • [Isoform GR-A beta]: Lacks exons 5, 6 and 7.
    • [Isoform GR-P]: Encoded by exons 2-7 plus several basepairs from the subsequent intron region.
      Lacks the ligand binding domain.
      Accounts for up to 10-20% of mRNAs.
    • [Isoform Alpha-B]: Produced by alternative initiation at Met-27 of isoform Alpha.
    • [Isoform Beta-B]: Produced by alternative initiation at Met-27 of isoform Beta.
    • [Isoform Alpha-C1]: Produced by alternative initiation at Met-86 of isoform Alpha.
    • [Isoform Alpha-C2]: Produced by alternative initiation at Met-90 of isoform Alpha.
    • [Isoform Alpha-C3]: Produced by alternative initiation at Met-98 of isoform Alpha.
    • [Isoform Alpha-D1]: Produced by alternative initiation at Met-316 of isoform Alpha.
    • [Isoform Alpha-D2]: Produced by alternative initiation at Met-331 of isoform Alpha.
    • [Isoform Alpha-D3]: Produced by alternative initiation at Met-336 of isoform Alpha.

    Three dimensional structures from PDB for NR3C1 Gene

    P04150
    PDB ID PDBe RCSB-PDB OCA Proteopedia
    1M2Z (3D) (3D) (3D)
    1NHZ (3D) (3D) (3D)
    1P93 (3D) (3D) (3D)
    3BQD (3D) (3D) (3D)
    3CLD (3D) (3D) (3D)

    Predicted three dimensional structure from AlphaFold

    P04150

neXtProt entry for NR3C1 Gene

Post-translational modifications for NR3C1 Gene

  • Acetylation by CLOCK reduces its binding to glucocorticoid response elements and its transcriptional activity.
    P04150-GCR_HUMAN
  • Increased proteasome-mediated degradation in response to glucocorticoids (PubMed:11555652).
    Isoform Alpha-B appears to be more susceptible to proteolytic degradation than isoform Alpha (PubMed:11435610).
    P04150-GCR_HUMAN
  • Phosphorylated in the absence of hormone; becomes hyperphosphorylated in the presence of glucocorticoid.
    The Ser-203, Ser-226 and Ser-404-phosphorylated forms are mainly cytoplasmic, and the Ser-211-phosphorylated form is nuclear (PubMed:12000743, 18838540).
    Phosphorylation at Ser-211 increases transcriptional activity (PubMed:12000743, 18483179).
    Phosphorylation at Ser-203, Ser-226 and Ser-404 decreases signaling capacity (PubMed:12000743, 18483179, 18838540).
    Phosphorylation at Ser-404 may protect from glucocorticoid-induced apoptosis (PubMed:18838540).
    Phosphorylation at Ser-203 and Ser-211 is not required in regulation of chromosome segregation (PubMed:25847991).
    May be dephosphorylated by PPP5C, attenuates NR3C1 action (By similarity).
    P04150-GCR_HUMAN
  • Sumoylation at Lys-277 and Lys-293 negatively regulates its transcriptional activity (PubMed:12144530).
    Sumoylation at Lys-703 positively regulates its transcriptional activity in the presence of RWDD3 (By similarity).
    Sumoylation at Lys-277 and Lys-293 is dispensable whereas sumoylation at Lys-703 is critical for the stimulatory effect of RWDD3 on its transcriptional activity (By similarity).
    Heat shock increases sumoylation in a RWDD3-dependent manner (By similarity).
    P04150-GCR_HUMAN
  • Ubiquitinated; restricts glucocorticoid-mediated transcriptional signaling.
    P04150-GCR_HUMAN
  • Ubiquitination at Lys419
    NX_P04150 (NX_P04150-1)
  • Modification sites at PhosphoSitePlus
    P04150
  • Glycosylation from GlyGen (P04150) 6 sites, 2 O-linked glycans (6 sites)

Antibodies for research

Protein products for research

Assay products for research

No data available for DME Specific Peptides for NR3C1 Gene

Domains & Families for NR3C1 Gene

Gene Families for NR3C1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Human disease related genes
  • Nuclear receptors
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for NR3C1 Gene

InterPro:
Blocks:
  • Steroid hormone receptor signature
  • Glucocorticoid receptor signature

Suggested Antigen Peptide Sequences for NR3C1 Gene

GenScript: Design optimal peptide antigens:
  • Glucocorticoid receptor (A0ZXF9_HUMAN)
  • Glucocorticoid receptor (B6ZGU6_HUMAN)
  • cDNA FLJ50281, highly similar to Glucocorticoid receptor (B7Z7I2_HUMAN)
  • Nuclear receptor subfamily 3, group C, member 1 (Glucocorticoid receptor), isoform CRA_b (E5KQF5_HUMAN)
  • Nuclear receptor subfamily 3, group C, member 1 (Glucocorticoid receptor), isoform CRA_a (E5KQF6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P04150

UniProtKB/Swiss-Prot:

GCR_HUMAN :
  • Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain (PubMed:3841189). The ligand-binding domain is required for correct chromosome segregation during mitosis although ligand binding is not required (PubMed:25847991).
  • Belongs to the nuclear hormone receptor family. NR3 subfamily.
Domain:
  • Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain (PubMed:3841189). The ligand-binding domain is required for correct chromosome segregation during mitosis although ligand binding is not required (PubMed:25847991).
Family:
  • Belongs to the nuclear hormone receptor family. NR3 subfamily.
Genes that share domains with NR3C1: view

Function for NR3C1 Gene

Molecular function for NR3C1 Gene according to UniProtKB/Swiss-Prot

Function:
  • Receptor for glucocorticoids (GC) (PubMed:27120390).
    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 transcription factors.
    Affects inflammatory responses, cellular proliferation and differentiation in target tissues.
    Involved in chromatin remodeling (PubMed:9590696).
    Plays a role in rapid mRNA degradation by binding to the 5' UTR of target mRNAs and interacting with PNRC2 in a ligand-dependent manner which recruits the RNA helicase UPF1 and the mRNA-decapping enzyme DCP1A, leading to RNA decay (PubMed:25775514).
    Could act as a coactivator for STAT5-dependent transcription upon growth hormone (GH) stimulation and could reveal an essential role of hepatic GR in the control of body growth (By similarity). GCR_HUMAN,P04150
  • [Isoform Alpha]: Has transcriptional activation and repression activity (PubMed:15866175, 19248771, 20484466, 23820903, 11435610, 15769988, 17635946, 19141540, 21664385).
    Mediates glucocorticoid-induced apoptosis (PubMed:23303127).
    Promotes accurate chromosome segregation during mitosis (PubMed:25847991).
    May act as a tumor suppressor (PubMed:25847991).
    May play a negative role in adipogenesis through the regulation of lipolytic and antilipogenic gene expression (By similarity). GCR_HUMAN,P04150
  • [Isoform Beta]: Acts as a dominant negative inhibitor of isoform Alpha (PubMed:7769088, 8621628, 20484466).
    Has intrinsic transcriptional activity independent of isoform Alpha when both isoforms are coexpressed (PubMed:19248771, 26711253).
    Loses this transcription modulator function on its own (PubMed:20484466).
    Has no hormone-binding activity (PubMed:8621628).
    May play a role in controlling glucose metabolism by maintaining insulin sensitivity (By similarity).
    Reduces hepatic gluconeogenesis through down-regulation of PEPCK in an isoform Alpha-dependent manner (PubMed:26711253).
    Directly regulates STAT1 expression in isoform Alpha-independent manner (PubMed:26711253). GCR_HUMAN,P04150
  • [Isoform Alpha-2]: Has lower transcriptional activation activity than isoform Alpha.
    Exerts a dominant negative effect on isoform Alpha trans-repression mechanism (PubMed:20484466). GCR_HUMAN,P04150
  • [Isoform GR-P]: Increases activity of isoform Alpha. GCR_HUMAN,P04150
  • [Isoform Alpha-B]: More effective than isoform Alpha in transcriptional activation, but not repression activity. GCR_HUMAN,P04150
  • [Isoform 10]: Has transcriptional activation activity. GCR_HUMAN,P04150
  • [Isoform Alpha-C1]: Has transcriptional activation activity. GCR_HUMAN,P04150
  • [Isoform Alpha-C2]: Has transcriptional activation activity. GCR_HUMAN,P04150
  • [Isoform Alpha-C3]: Has highest transcriptional activation activity of all isoforms created by alternative initiation (PubMed:15866175, 23820903).
    Has transcriptional repression activity (PubMed:23303127).
    Mediates glucocorticoid-induced apoptosis (PubMed:23303127, 23820903). GCR_HUMAN,P04150
  • [Isoform Alpha-D1]: Has transcriptional activation activity. GCR_HUMAN,P04150
  • [Isoform Alpha-D2]: Has transcriptional activation activity. GCR_HUMAN,P04150
  • [Isoform Alpha-D3]: Has lowest transcriptional activation activity of all isoforms created by alternative initiation (PubMed:15866175, 23820903).
    Has transcriptional repression activity (PubMed:23303127). GCR_HUMAN,P04150
Induction:
  • [Isoform Alpha]: Induced by TNF (at protein level). GCR_HUMAN,P04150
  • [Isoform Beta]: Induced by TNF and becomes the predominant isoform which may lead to glucocorticoid resistance (at protein level). GCR_HUMAN,P04150

Molecular function for NR3C1 Gene according to GENATLAS

Biochemistry:
  • nuclear recptor subafamily 3,group C,member 1,steroid/thyroid hormone receptor superfamily,interacting with tissue-specific transcriptional activators required for receptor actin (see HNFS) NR3C1

Phenotypes From GWAS Catalog for NR3C1 Gene

Phenotype Gene Relation Best Score Mean Score # of Snps # of Studies SNP IDs
heel bone mineral density 25.1 16.60954 2 3
body height 21.7 13.37426 5 4
atrial fibrillation
  • GWAS
16.7 12.64027 2 2
vital capacity 13.2 13.1549 1 1
hematocrit 13.2 11.35857 1 2

Gene Ontology (GO) - Molecular Function for NR3C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 3 5 enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 1894621
GO:0000978 3 5 enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA, IBA, IDA 16728402
GO:0000981 3 5 enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0001046 3 5 enables core promoter sequence-specific DNA binding IDA 17081986
GO:0001227 3 5 enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA 1894621
Genes that share ontologies with NR3C1: view
Genes that share phenotypes with NR3C1: view

Human Phenotype Ontology for NR3C1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms
HP:0000006 Autosomal dominant inheritance HP:0001463 A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant; Autosomal dominant form; Autosomal dominant type
HP:0000025 Functional abnormality of male internal genitalia
HP:0000055 Abnormality of female external genitalia An abnormality of the female external genitalia. Abnormal female external genitalia
HP:0000062 Ambiguous genitalia HP:0008693 A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4. Ambiguous external genitalia; Ambiguous external genitalia at birth; Intersex genitalia
HP:0000078 Abnormality of the genital system An abnormality of the genital system. Abnormality of the reproductive system; Genital abnormalities; Genital abnormality; Genital anomalies; Genital defects

Animal Models for NR3C1 Gene

MGI Knock Outs for NR3C1:

miRNA for NR3C1 Gene

miRTarBase miRNAs that target NR3C1

Genes targeted by the NR3C1 transcription factor

Selected GeneGlobe predicted Target genes for NR3C1
Targeted motifs for NR3C1 Gene
HOMER Transcription Factor Regulatory Elements motif NR3C1
  • Consensus sequence: NAGAACAGNCTGTTCT Submotif: IR3 Cell Type: A549 GEO ID: GSE32465

miRNA products for research

Clone products for research

Reporter Lentiviral Particles for Research

No data available for Enzyme Numbers (IUBMB) and NCBI Functional elements for NR3C1 Gene

Localization for NR3C1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NR3C1 Gene

[Isoform Alpha]: Cytoplasm. Nucleus. Mitochondrion. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=After ligand activation, translocates from the cytoplasm to the nucleus. In the presence of NR1D1 shows a time-dependent subcellular localization, localizing to the cytoplasm at ZT8 and to the nucleus at ZT20 (By similarity). Lacks this diurnal pattern of localization in the absence of NR1D1, localizing to both nucleus and the cytoplasm at ZT8 and ZT20 (By similarity). {ECO:0000250 UniProtKB:P06537, ECO:0000269 PubMed:18838540, ECO:0000269 PubMed:27120390, ECO:0000269 PubMed:8621628}.
[Isoform Beta]: Nucleus. Cytoplasm. Note=Expressed predominantly in the nucleus with some expression also detected in the cytoplasm. {ECO:0000269 PubMed:19248771, ECO:0000269 PubMed:26711253}.
[Isoform Alpha-B]: Nucleus. Cytoplasm. Note=After ligand activation, translocates from the cytoplasm to the nucleus. {ECO:0000269 PubMed:15866175}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NR3C1 gene
Compartment Confidence
cytosol 5
nucleus 5
mitochondrion 5
cytoskeleton 4
extracellular 3
plasma membrane 3
lysosome 2
endoplasmic reticulum 2
peroxisome 2
golgi apparatus 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (4)
  • Mitochondria (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NR3C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 3 5 located_in chromatin ISA
GO:0005634 3 5 located_in nucleus IDA, IC, TAS 9353307
GO:0005654 3 5 located_in nucleoplasm IDA, TAS, TAS
GO:0005737 3 5 located_in cytoplasm IDA, TAS 15769988
GO:0005739 5 mitochondrion IEA
Genes that share ontologies with NR3C1: view

Pathways & Interactions for NR3C1 Gene

SuperPathways for NR3C1 Gene

Genes that share pathways with NR3C1: view

Pathways by source for NR3C1 Gene

7 GeneGo (Thomson Reuters) pathways for NR3C1 Gene
  • Development Prolactin receptor signaling
  • Development_Glucocorticoid receptor signaling
  • Immune response MIF-JAB1 signaling
  • Immune response MIF-mediated glucocorticoid regulation
  • Immune response_IL-6 signaling pathway
1 R&D Systems pathway for NR3C1 Gene
4 Qiagen pathways for NR3C1 Gene
  • Glucocorticoid Receptor Signaling
  • MIF Mediated Glucocorticoid Regulation
  • NTHi-Induced Signaling
  • Prolactin Signaling
1 Cell Signaling Technology pathway for NR3C1 Gene

Additional Pathway Information for NR3C1 Gene

Interacting Proteins for NR3C1 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)
STRING Interaction Network for NR3C1
Selected Interacting proteins: P04150-GCR_HUMAN ENSP00000231509 for NR3C1 Gene via UniProtKB MINT STRING IID

Symbol External ID(s) Details
CD4
LCK
AKT1
CD3D
EGFR
GRIP1
HNF4A
HSP90AA1
MED25
NR4A1
RPS6KA5
RXRB
SFN
TMF1
ABL1
ACTG1
ACTL6A
ADA
ADORA2A
AHR
AHSG
AIP
ALB
ALDH16A1
ANLN

Gene Ontology (GO) - Biological Process for NR3C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 3 5 involved_in negative regulation of transcription by RNA polymerase II IDA, IMP, IMP 12902338
GO:0006111 3 5 involved_in regulation of gluconeogenesis IEA
GO:0006325 3 5 involved_in chromatin organization IEA
GO:0006355 3 5 involved_in regulation of DNA-templated transcription IDA 17081986
GO:0006357 3 5 involved_in regulation of transcription by RNA polymerase II IBA 21873635
Genes that share ontologies with NR3C1: view

Drugs & Compounds for NR3C1 Gene

(145) Drugs for NR3C1 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fluticasone propionate 21 23 52 75 81 93 Approved 23 Pharma Agonist, Target Selective high affinity glucocorticoid receptor agonist
Dexamethasone 21 23 52 75 75 93 Approved, Investigational, Vet_approved 23 Pharma Agonist, Target Glucocorticoids, Anti-Inflammatory Agents, Small Molecule, Anti-inflammatory glucocorticoid
Methylprednisolone 23 52 75 81 93 Approved, Vet_approved 23 Pharma Agonist, Target Apoptosis inducer,GR agonist, Anti-Inflammatory Agents, Glucocorticoids, Small Molecule, Glucocorticoid receptor agonist
Betamethasone 21 23 75 81 93 Approved, Vet_approved 23 Pharma Agonist, Target Glucocorticoid receptor agonist, Small Molecule, Anti-Inflammatory Agents, Glucocorticoids, Immunosuppressive Agents
Budesonide 21 23 75 81 93 Approved 23 Pharma Antagonist, Agonist, Target Anti-inflammatory corticosteroid, Small Molecule, Glucocorticoids, Anti-Inflammatory Agents, Anti-Asthmastic Agents, Anti-Allergic Agents

(58) Inferred Drugs for NR3C1 Gene

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acetylcholine 21 Approved, Investigational 23 Pharma
Aminoglutethimide 21 Approved, Investigational 23 Pharma Small Molecule, Antineoplastic Agents
Arformoterol 21 Approved, Investigational 23 23 Pharma Bronchodilator Agents, Small Molecule
Carbamoylcholine 21 Approved 23 Pharma Small Molecule, Antiglaucomic Agents
Chloramphenicol 21 Approved, Vet_approved 23 Pharma

(12) Additional Compounds for NR3C1 Gene - From: Novoseek and IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
AZD2906
  • AZD-2906|compound 4 [PMID: 29424542]
AZD9567
  • AZD 9567|AZD-9567|compound 15 [PMID: 29424542]|example 1 [WO2016046260A1]
benzodrocortisone
  • compound 1 [WO2013071010]|hydrocortisone 17-benzoate
BI 653048
  • (R)-39|BI 653048 BS H3PO4|BI-653048|BI653048
C108297
  • Compound 52 [PMID:18226897]

(33) Additional Inferred Compounds for NR3C1 Gene

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
11 deoxycortisol
11beta-Hydroxysteroid
11-Dehydrocorticosterone
  • 11-Dehydrocorticosteron
  • 11-Dehydro-corticosterone
  • 11-Dehydrocorticosterone, 4-(14)C labeled
  • 11-oxo-11-Deoxycorticosterone
  • 11-Oxocorticosterone
72-23-1
5-CT
  • 5-Carboxamide tryptamine
  • 5-carboxamidotryptamine
  • 5-Carboxyamidotryptamine
  • 5-CT
7-Ketocholesterol
  • 3beta-Hydroxy-5-cholestene-7-one
  • 3b-Hydroxycholest-5-en-7-one
  • 5-Cholesten-3 beta-ol-7-one
  • 7-Oxocholesterol
  • Cholest-5-en-3b-ol-7-one
566-28-9

(3) Tocris Compounds for NR3C1 Gene

Compound Action Cas Number
Dexamethasone Anti-inflammatory glucocorticoid 50-02-2
Fluticasone propionate Selective high affinity glucocorticoid receptor agonist 80474-14-2
Methylprednisolone Glucocorticoid receptor agonist 83-43-2

(23) ApexBio Compounds for NR3C1 Gene

Compound Action Cas Number
Beclomethasone dipropionate Corticosteroid used for asthma and rhinitis 5534-09-8
Betamethasone Glucocorticoid receptor agonist 378-44-9
Betamethasone Dipropionate 5593-20-4
Betamethasone Valerate 2152-44-5
Budesonide Anti-inflammatory corticosteroid 51333-22-3
Ciclesonide 126544-47-6
Cortisone acetate 1950-04-4
Deflazacort 14484-47-0
Desonide 638-94-8
Dexamethasone acetate 1177-87-3
Flumethasone 2135-17-3
Fluocinolone Acetonide 67-73-2
Fluocinonide 356-12-7
Fluorometholone Acetate 3801-06-7
Fluticasone propionate 80474-14-2
Glucocorticoid receptor agonist 1245526-82-2
GSK 9027 1229096-88-1
Hydrocortisone 50-23-7
Meprednisone 1247-42-3
Methylprednisolone Apoptosis inducer,GR agonist 83-43-2
Mifepristone Progesterone receptor antagonist 84371-65-3
Prednisolone 50-24-8
Triamcinolone 124-94-7
Genes that share compounds with NR3C1: view

Drug products for research

Transcripts for NR3C1 Gene

mRNA/cDNA for NR3C1 Gene

21 REFSEQ mRNAs :
34 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

miRNA products for research

Clone products for research

Reporter Lentiviral Particles for Research

Alternative Splicing Database (ASD) splice patterns (SP) for NR3C1 Gene

No ASD Table

Relevant External Links for NR3C1 Gene

GeneLoc Exon Structure for
NR3C1

Expression for NR3C1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NR3C1 Gene

Protein differential expression in normal tissues from HIPED for NR3C1 Gene

This gene is overexpressed in Monocytes (17.3), CD8 Tcells (9.6), and Peripheral blood mononuclear cells (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NR3C1 Gene



Protein tissue co-expression partners for NR3C1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NR3C1

SOURCE GeneReport for Unigene cluster for NR3C1 Gene:

Hs.122926

mRNA Expression by UniProt/SwissProt for NR3C1 Gene:

P04150-GCR_HUMAN
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 atrioventricular node as well as whole adult and fetal heart (PubMed:10902803).

Evidence on tissue expression from TISSUES for NR3C1 Gene

  • Liver(4.7)
  • Kidney(4.7)
  • Nervous system(4.6)
  • Adrenal gland(3.7)
  • Blood(3.5)
  • Lung(3.4)
  • Muscle(3.4)
  • Heart(3.1)
  • Pancreas(3.1)
  • Intestine(3)
  • Spleen(3)
  • Thyroid gland(2.9)
  • Bone marrow(2.9)
  • Lymph node(2.8)
  • Skin(2.8)
  • Bone(2.5)
  • Stomach(2.5)
  • Saliva(2.2)
  • Eye(2.2)
  • Urine(2.1)
  • Gall bladder(2)

Bgee gene expression patterns for NR3C1 gene:

  • Expressed in endothelial cell, tibia, cartilage tissue and 208 other tissues.

Phenotype-based relationships between genes and organs from Gene ORGANizer for NR3C1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • integumentary
  • nervous
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
Abdomen:
  • adrenal gland
  • kidney
  • pancreas
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
Genes that share expression patterns with NR3C1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for NR3C1 Gene

Orthologs for NR3C1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NR3C1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NR3C1 28 29
  • 99.7 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GR-A 29
  • 94 (a)
OneToOne
NR3C1 28
  • 91.62 (n)
Dog
(Canis familiaris)
Mammalia NR3C1 28 29
  • 91.54 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Nr3c1 28 16 29
  • 89.58 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Nr3c1 28
  • 89.15 (n)
Oppossum
(Monodelphis domestica)
Mammalia NR3C1 29
  • 83 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia NR3C1 29
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves NR3C1 28 29
  • 74.04 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NR3C1 29
  • 75 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia nr3c1 28
  • 69.96 (n)
African clawed frog
(Xenopus laevis)
Amphibia xGR 28
Zebrafish
(Danio rerio)
Actinopterygii nr3c1 28 29
  • 58.15 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11855 28
Species where no ortholog for NR3C1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for NR3C1 Gene

ENSEMBL:
Gene Tree for NR3C1 (if available)
TreeFam:
Gene Tree for NR3C1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NR3C1: view image
Alliance of Genome Resources:
Additional Orthologs for NR3C1

Paralogs for NR3C1 Gene

Paralogs for NR3C1 Gene

(15) SIMAP similar genes for NR3C1 Gene using alignment to 14 proteins:

  • GCR_HUMAN
  • B6ZGU6_HUMAN
  • B7Z7I2_HUMAN
  • D6RDA9_HUMAN
  • E5KQF5_HUMAN
  • E5KQF6_HUMAN
  • F1D8N4_HUMAN
  • F5ATB7_HUMAN
  • F5ATB8_HUMAN
  • H6V744_HUMAN
  • H6V745_HUMAN
  • L8E9L6_HUMAN
  • Q3MSN1_HUMAN
  • Q3MSN4_HUMAN

Pseudogenes.org Pseudogenes for NR3C1 Gene

Genes that share paralogs with NR3C1: view

Variants for NR3C1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for NR3C1 Gene

GCR_HUMAN-P04150
Carriers of the 22-Glu-Lys-23 allele are relatively more resistant to the effects of GCs with respect to the sensitivity of the adrenal feedback mechanism than non-carriers, resulting in a better metabolic health profile. Carriers have a better survival than non-carriers, as well as lower serum CRP levels. The 22-Glu-Lys-23 polymorphism is associated with a sex-specific, beneficial body composition at young-adult age, as well as greater muscle strength in males.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NR3C1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
1451274

Pathogenic: not provided

143,310,130(-) G/ANM_000176.3(NR3C1):c.1435C>T (p.Arg479Ter)
NONSENSE,NON_CODING_TRANSCRIPT
rs104893908 5 4 109

Pathogenic: Glucocorticoid Resistance, Generalized

Glucocorticoid resistance, generalized (GCCR) [MIM:615962]
143,295,561(-) p.Asp641Val
T/ANM_000176.3(NR3C1):c.1922A>T (p.Asp641Val)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs104893909 5 4 109

Pathogenic: Glucocorticoid Resistance, Generalized

Glucocorticoid resistance, generalized (GCCR) [MIM:615962]
143,300,556(-) p.Ile559Asn
A/TNM_000176.3(NR3C1):c.1676T>A (p.Ile559Asn)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs104893910 5 4 109

Pathogenic: Glucocorticoid Resistance, Generalized

Glucocorticoid resistance, generalized (GCCR) [MIM:615962]
143,281,982(-) p.Ile747Met
A/CNM_000176.3(NR3C1):c.2241T>G (p.Ile747Met)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
rs104893911 5 109 4

Pathogenic: Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance

143,300,520(-) A/GNM_000176.3(NR3C1):c.1712T>C (p.Val571Ala)
p.Val571Ala
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NR3C1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for NR3C1 Gene

Variant ID Type Subtype PubMed ID
esv33748 CNV loss 17666407
nsv5041 CNV deletion 18451855
esv2730855 CNV deletion 23290073
nsv4129079 CNV deletion 32461652
esv2730856 CNV deletion 23290073
esv1954637 CNV deletion 18987734
esv2730857 CNV deletion 23290073
esv3675754 CNV deletion 25597990
nsv328009 CNV deletion 16902084
nsv328818 CNV deletion 16902084
nsv3381744 CNV deletion 30661756
nsv1146130 CNV deletion 26484159
esv1001228 CNV deletion 20482838
esv2730858 CNV deletion 23290073
esv1765773 CNV deletion 17803354
nsv327674 CNV deletion 16902084
nsv4115412 CNV duplication 32461652
nsv950421 CNV duplication 24416366
nsv4119404 CNV deletion 32461652
nsv4119480 CNV deletion 32461652
nsv4565530 CNV line1 insertion 32461652
nsv4130520 CNV deletion 32461652
nsv4122133 CNV duplication 32461652
nsv4123832 CNV deletion 32461652
nsv980741 CNV duplication 23825009
nsv4523429 CNV deletion 32461652
nsv4546159 CNV insertion 32461652
nsv4115590 CNV deletion 32461652
nsv327858 CNV deletion 16902084
nsv4116448 CNV duplication 32461652
nsv4481848 CNV alu insertion 32461652
nsv4117452 CNV deletion 32461652
esv3685714 CNV insertion 25597990
nsv4131848 CNV duplication 32461652
esv3607020 CNV loss 21293372
esv2666615 CNV deletion 23128226
nsv4486751 CNV alu insertion 32461652
nsv4568918 CNV line1 insertion 32461652
nsv4121817 CNV deletion 32461652
nsv4117415 CNV deletion 32461652
nsv4113637 CNV duplication 32461652
nsv4558805 CNV mobile element insertion 32461652
nsv1129750 CNV tandem duplication 24896259
esv1786342 CNV insertion 17803354
nsv3380450 CNV insertion 30661756
SVs/CNVs around NR3C1 on UCSC Golden Path with GeneCards custom tracks (GRCh38/hg38, GRCh37/hg19)

Variation tolerance for NR3C1 Gene

Residual Variation Intolerance Score: 23.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.53; 44.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NR3C1 Gene

Human Gene Mutation Database (HGMD)
NR3C1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NR3C1
Leiden Open Variation Database (LOVD)
NR3C1

SNP Genotyping and Copy Number Assays for research

Disorders for NR3C1 Gene

(68) MalaCards diseases for NR3C1 Gene - From: OMIM®, ClinVar, GTR, Orphanet, UniProtKB/Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
Glucocorticoid Resistance, Generalized 1 4 6 99 101 109
  • Glucocorticoid Resistance
  • Glucocorticoid Receptor Deficiency
  • Cortisol Resistance From Glucocorticoid Receptor Defect
  • GCCR
  • Gccr Deficiency
  • Gcr Deficiency
  • Grl Deficiency
  • Generalized Glucocorticoid Resistance Syndrome
  • GCRES
  • Cortisol Resistance
  • Chrousos Syndrome
186477 1704018 2996089 6282933 6841559 8445027 11589680 11701741 16449337 21912096 23076843 19933394
Acth-Secreting Pituitary Adenoma 1 64
  • Acth-Producing Pituitary Adenoma
  • Corticotroph Adenoma
  • Corticotropinoma
  • Pituitary-Dependent Cushing'S Disease
  • Adrenal Gland Hyperfunction
  • Cushing Syndrome
Ocular Hypertension 1 21 64
  • Hypertension, Ocular
  • Intraocular Pressure Increase
  • Oh - [Ocular Hypertension]
  • Oht - [Ocular Hypertension]
19484926 20376328 17563720
Conn'S Syndrome 21 64
  • Cushing Syndrome
  • Hyperaldosteronism
  • Primary Hyperaldosteronism
  • Hypercortisolism
  • Primary Aldosteronism
  • Cushing'S Syndrome
  • Adrenal Gland Hyperfunction
  • Conn Syndrome
  • Hyperadrenalism
  • Ectopic Acth Syndrome
  • Hyperadrenocorticism
  • Cushing Disease
  • Adrenal Cortex Adenoma
  • Corticotroph Pituitary Adenoma
  • Cushing'S Disease
  • Pituitary Corticotroph Micro-Adenoma
  • Pituitary-Dependent Cushing Syndrome
  • Pituitary Acth Hypersecretion
  • Acth Syndrome, Ectopic
  • Acth-Secreting Pituitary Adenoma
  • Adrenal Hyperfunction Resulting From Pituitary Acth Excess
  • Ectopic Adrenocorticotropic Hormone Syndrome
  • Nodular Primary Adrenocortical Dysplasia
  • Pituitary Dependent Cushing Syndrome
  • Pituitary Cushing Syndrome
  • Pituitary-Dependant Cushing Syndrome
  • Pituitary-Dependant Hypercortisolism
  • Pituitary-Dependant Hypercortisolism Disorder
  • Aldosteronism Primary
  • Acth Syndrome Ectopic
  • Adrenal Cushing'S Syndrome
  • Adrenal Cortical Adenoma
  • Cushing Syndrome Nos
  • Cortisol Hypersecretion
  • Corticoadrenal Hypersecretion
  • Cushing Syndrome Secondary To Ectopic Acth-Secretion
  • Ectopic Cushing Syndrome
  • Hypercortisolism Due To Nonpituitary Tumour
  • Ectopic Acth - [Adrenocorticotropic Hormone] Secretion
  • Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome
  • Idiopathic Aldosteronism
  • Aldosteronism
  • Primary Aldosteronism Due To Bilateral Adrenal Hyperplasia
  • Primary Aldosteronism Due To Adrenal Hyperplasia
8396510 7958079 20015838 8254033 17587649 10995524 16118334 18406688 10802524 1794941 16456492 16855182 17984235 19635986 20035723 1901389 16458262 10634357 2214620 8164384
Post-Traumatic Stress Disorder 21 64
  • PTSD
  • Traumatic Neurosis
  • Post Traumatic Stress Disorder
  • Stress Disorders, Post-Traumatic
  • Posttraumatic Stress Disorder
  • Ptsd - [Post Traumatic Stress Disorder]
  • Trauma-Related Disorders
18037007 12242055 14666121 12562397 15511603 2006697 17644267 17546347
- elite association - COSMIC cancer census association via MalaCards
Search NR3C1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GCR_HUMAN
  • Glucocorticoid resistance, generalized (GCCR) [MIM:615962]: An autosomal dominant disease characterized by increased plasma cortisol concentration and high urinary free cortisol, resistance to adrenal suppression by dexamethasone, and the absence of Cushing syndrome typical signs. Clinical features include hypoglycemia, hypertension, metabolic alkalosis, chronic fatigue and profound anxiety. {ECO:0000269 PubMed:11589680, ECO:0000269 PubMed:11701741, ECO:0000269 PubMed:12050230, ECO:0000269 PubMed:15769988, ECO:0000269 PubMed:1704018, ECO:0000269 PubMed:17635946, ECO:0000269 PubMed:20335448, ECO:0000269 PubMed:21362280, ECO:0000269 PubMed:23426617, ECO:0000269 PubMed:24483153, ECO:0000269 PubMed:26031419, ECO:0000269 PubMed:26541474, ECO:0000269 PubMed:27120390, ECO:0000269 PubMed:7683692}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for NR3C1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
Cancer Target Discovery and Development
(CTD² Dashboard)
The FABRIC Cancer Portal
(FABRIC)
Genes that share disorders with NR3C1: view

No data available for GENATLAS for NR3C1 Gene

Publications for NR3C1 Gene

  1. Familial glucocorticoid resistance caused by a splice site deletion in the human glucocorticoid receptor gene. (PMID: 8445027) Karl M … Chrousos GP (The Journal of clinical endocrinology and metabolism 1993) 3 4 21 69
  2. 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: 20335448) Nader N … Kino T (The Journal of clinical endocrinology and metabolism 2010) 3 4 21
  3. Assessment of SNPs associated with the human glucocorticoid receptor in primary open-angle glaucoma and steroid responders. (PMID: 20376328) Fingert JH … Clark AF (Molecular vision 2010) 3 21 39
  4. Pharmacogenetic risk factors for altered bone mineral density and body composition in pediatric acute lymphoblastic leukemia. (PMID: 20015871) te Winkel ML … van den Heuvel-Eibrink MM (Haematologica 2010) 3 21 39
  5. Glucocorticoid receptor phosphorylation differentially affects target gene expression. (PMID: 18483179) Chen W … Garabedian MJ (Molecular endocrinology (Baltimore, Md.) 2008) 3 4 21

Products for NR3C1 Gene

Sources for NR3C1 Gene