BDgene

Gene Report

Basic Info
Approved Symbol NR3C1
Previous Symbol GRL
Symbol Alias GR
Approved Name nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
Previous Name nuclear receptor subfamily 3, group C, member 1
Location 5q31-q32
Position chr5:143277931-143435512, -1
External Links HGNC: 7978
Entrez Gene: 2908
Ensembl: ENSG00000113580
UCSC: uc003lnb.3
No. of Studies 5 (Positive: 2; Negative: 3; trend: 0)
Overlap with SZ? YES
Overlap with MDD? YES
Gene related studies (count: 5)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Spijker, A. T.,2009 SNP: rs10052957, rs6198 A trend was found for a protective effect of the exon 9beta polymorphism (p = 0.14) and the TthIIII polymorphism (p < 0.05) on the manifestation of the disease.We conclude that the exon 9b polymorphism and the TthIIII polymorphism of the GR gene may be associated with a protective effect on the clinical manifestation and course in patients with BD. Positive Comment on Study
Ceulemans, S.,2011 SNP: rs10041520, rs10482616, rs10482633, rs10482668, rs10482672, rs10482682, rs10482689, rs10482704, rs10515522, rs17100236, rs17100289, rs17100306, rs17209237, rs17209258, rs17399352, rs1866388, rs2121152, rs258750, rs2963155, rs33389, rs4128753, rs4607376, rs4912911, rs6196, rs6877893, rs7701443, rs7705497, rs7709864, rs7714402, rs7720743, rs7728928, rs9324918, rs9324921, rs9324924
Other variant: rs6195
This study contributes to the growing evidence for a role of the glucocorticoid receptor gene (NR3C1) in vulnerability to mood disorders, and BPD in particular, and warrants further in vitro investigation of the at-risk haplotypes with respect to disease etiology. Positive Comment on Study
Szczepankiewicz, A.,2011 SNP: rs10052957, rs258813, rs33388, rs41423247, rs6191, rs6196, rs6198
Other variant: rs6195
Genotype and allele frequency distributions did not differ significantly between BD patients and controls. Negative Comment on Study
Leszczynska-Rodziewicz, A., 2012 SNP: rs10052957, rs258813, rs33388, rs41423247, rs6191, rs6196, rs6198
Other variant: rs6195
We did not find any association between the polymorphisms of the NR3C1 gene. Negative Comment on Study
Leszczynska-Rodziewicz A, 2013 SNP: rs41423247, rs56149945, rs10052957, rs6198, rs6191, rs258813, rs6196, rs33388 In our study we found no association between melancholic depression and polymorphisms in this gene. Negative Comment on Study
Gene functional annotation
Gene related GO terms (count: 35)

GO terms by PBA (count: 4)

GO terms by database search (count: 31)


Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 1)


Gene related BioCarta pathways (count: 3)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 3)


Gene related interactors from protein-protein interactions data in HPRD (count: 79)

Related other genetic factors
Gene related SNPs (count: 83)

Literature-origin SNPs (count: 41)

LD-proxies (count: 42)


Gene related CNVs (count: 0)

Gene related other variants (count: 1)

Gene related regions (count: 2)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)
Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 0)

Overlap with SZ from candidate gene intersection analysis (count: 1)


Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 0)

Overlap with MDD from candidate gene intersection analysis (count: 8)


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Region: chr5:143277931..143435512 View in gBrowse
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