ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	NR3C2
Previous Symbol	MLR
Symbol Alias	MR
Approved Name	nuclear receptor subfamily 3, group C, member 2
Location	4q31
Position	chr4:148999913-149365850, -
External Links	HGNC: 7979 Entrez Gene: 4306 Ensembl: ENSG00000151623 UCSC: uc003ilj.3
No. of Studies	1 (significant: 0; non-significant: 1; trend: 0)
Source	Literature-origin; Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 1)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Kortmann, G. L., 2012	Carriers of the Val allele presented higher inattention, hyperactivity/impulsivity and impairment scores, while genotype and allele frequencies did not differ between patients and controls.	Non-significant

Gene related SNPs (count: 7)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs5522	Chr4:149357475(Fwd)	missense_variant	1(0/1/0)

LD-proxies (count: 6)

rs_ID	Location	Functional Annotation
rs2070949	Chr4:149358504(Fwd)	intron_variant; upstream_gene_variant
rs10213471	Chr4:149370492(Fwd)	upstream_gene_variant
rs2172002	Chr4:149352962(Fwd)	intron_variant
rs11730626	Chr4:149354289(Fwd)	intron_variant
rs5525	Chr4:149356516(Fwd)	synonymous_variant
rs2248038	Chr4:149364999(Fwd)	intron_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 13)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 13)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0010467	gene expression	Biological Process		140
GO:0043565	sequence-specific DNA binding	Molecular Function		72
GO:0003700	sequence-specific DNA binding transcription factor activity	Molecular Function		132
GO:0005496	steroid binding	Molecular Function		7
GO:0003707	steroid hormone receptor activity	Molecular Function		9
GO:0005654	nucleoplasm	Cellular Component		183
GO:0005515	protein binding	Molecular Function	IPI[11518808]	910
GO:0006367	transcription initiation from RNA polymerase II promoter	Biological Process		42
GO:0005789	endoplasmic reticulum membrane	Cellular Component		140
GO:0007165	signal transduction	Biological Process	TAS[3037703]	171
GO:0006883	cellular sodium ion homeostasis	Biological Process		2
GO:0008270	zinc ion binding	Molecular Function		323
GO:0007588	excretion	Biological Process		10

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04960	Aldosterone-regulated sodium reabsorption	13	Sodium transport across the tight epithelia of Na+ reabsorbi...... Sodium transport across the tight epithelia of Na+ reabsorbing tissues such as the distal part of the kidney nephron and colon is the major factor determining total-body Na+ levels, and thus, long-term blood pressure. Aldosterone plays a major role in sodium and potassium metabolism by binding to epithelial mineralocorticoid receptors (MR) in the renal collecting duct cells localized in the distal nephron, promoting sodium resorption and potassium excretion. Aldosterone enters a target cell and binds MR, which translocates into the nucleus and regulates gene transcription. Activation of MR leads to increased expression of Sgk-1, which phosphorylates Nedd4-2, an ubiquitin-ligase which targets ENAC to proteosomal degradation. Phosphorylated Nedd4-2 dissociates from ENAC, increasing its apical membrane abundance. Activation of MR also leads to increased expression of Na+/K+-ATPase, thus causing a net increase in sodium uptake from the renal filtrate. The specificity of MR for aldosterone is provided by 11beta-HSD2 by the rapid conversion of cortisol to cortisone in renal cortical collecting duct cells. Recently, besides genomic effects mediated by activated MR, rapid aldosterone actions that are independent of translation and transcription have been documented. More...

Genes shared at least 5 GO terms with NR3C2 (count: 15)

Gene Symbol	Pathway Count	Pathway List
PGR	9	gene expression; sequence-specific DNA binding; steroid binding; steroid hormone receptor activity; nucleoplasm; protein binding; transcription initiation from RNA polymerase II promoter; signal transduction; zinc ion binding;
RORA	9	gene expression; sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; steroid hormone receptor activity; nucleoplasm; protein binding; transcription initiation from RNA polymerase II promoter; signal transduction; zinc ion binding;
ESRRA	8	gene expression; sequence-specific DNA binding; steroid binding; steroid hormone receptor activity; nucleoplasm; protein binding; transcription initiation from RNA polymerase II promoter; zinc ion binding;
NR4A2	8	gene expression; sequence-specific DNA binding; steroid hormone receptor activity; nucleoplasm; protein binding; transcription initiation from RNA polymerase II promoter; signal transduction; zinc ion binding;
NR5A1	7	gene expression; sequence-specific DNA binding; steroid hormone receptor activity; nucleoplasm; protein binding; transcription initiation from RNA polymerase II promoter; zinc ion binding;
NCOR1	6	gene expression; sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; nucleoplasm; protein binding; transcription initiation from RNA polymerase II promoter;
NEDD4L	6	gene expression; nucleoplasm; protein binding; transcription initiation from RNA polymerase II promoter; cellular sodium ion homeostasis; excretion;
NR4A3	6	gene expression; sequence-specific DNA binding; steroid hormone receptor activity; nucleoplasm; transcription initiation from RNA polymerase II promoter; zinc ion binding;
NR6A1	6	gene expression; sequence-specific DNA binding; steroid hormone receptor activity; nucleoplasm; transcription initiation from RNA polymerase II promoter; zinc ion binding;
ATF6	6	sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; nucleoplasm; protein binding; endoplasmic reticulum membrane; signal transduction;
E2F5	5	gene expression; sequence-specific DNA binding transcription factor activity; nucleoplasm; protein binding; transcription initiation from RNA polymerase II promoter;
MEN1	5	gene expression; sequence-specific DNA binding; nucleoplasm; protein binding; transcription initiation from RNA polymerase II promoter;
RBPJ	5	gene expression; sequence-specific DNA binding transcription factor activity; nucleoplasm; protein binding; transcription initiation from RNA polymerase II promoter;
TAF10	5	gene expression; sequence-specific DNA binding transcription factor activity; nucleoplasm; protein binding; transcription initiation from RNA polymerase II promoter;
TAF13	5	gene expression; sequence-specific DNA binding transcription factor activity; nucleoplasm; protein binding; transcription initiation from RNA polymerase II promoter;

Genes shared at least 2 KEGG pathways with NR3C2 (count: 0)

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Region: chr4:148999913..149365850 View in gBrowse