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, -1
External Links	HGNC: 7979 Entrez Gene: 4306 Ensembl: ENSG00000151623 UCSC: uc003ilj.4
No. of Studies	1 (significant: 0; non-significant: 1; trend: 0)
Source	Literature-origin; 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; NMD_transcript_variant	1(0/1/0)

LD-proxies (count: 6)

rs_ID	Location	Functional Annotation
rs2070949	chr4:149358504(Fwd)	intron_variant; NMD_transcript_variant; upstream_gene_variant
rs10213471	chr4:149370492(Fwd)	upstream_gene_variant
rs2248038	chr4:149364999(Fwd)	intron_variant; upstream_gene_variant
rs5525	chr4:149356516(Fwd)	NMD_transcript_variant; synonymous_variant
rs11730626	chr4:149354289(Fwd)	intron_variant; NMD_transcript_variant
rs2172002	chr4:149352962(Fwd)	intron_variant; NMD_transcript_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:0003700	sequence-specific DNA binding transcription factor activity	molecular function	IEA	148
GO:0005515	protein binding	molecular function	IPI[11518808]	1015
GO:0010467	gene expression	biological process	TAS	154
GO:0006883	cellular sodium ion homeostasis	biological process	IEA	2
GO:0003707	steroid hormone receptor activity	molecular function	IEA	8
GO:0043565	sequence-specific DNA binding	molecular function	IEA	80
GO:0005789	endoplasmic reticulum membrane	cellular component	IEA	159
GO:0005654	nucleoplasm	cellular component	TAS	210
GO:0005496	steroid binding	molecular function	IEA	8
GO:0006367	transcription initiation from RNA polymerase II promoter	biological process	TAS	44
GO:0007588	excretion	biological process	IEA	10
GO:0007165	signal transduction	biological process	TAS[3037703]	189
GO:0008270	zinc ion binding	molecular function	IEA	367

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with NR3C2 (count: 13)

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