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	DRD3
Approved Name	dopamine receptor D3
Location	3q13.3
Position	chr3:113847499-113918254, -1
External Links	HGNC: 3024 Entrez Gene: 1814 Ensembl: ENSG00000151577 UCSC: uc003ebc.1
No. of Studies	8 (significant: 1; non-significant: 7; trend: 0)
Source	Literature-origin; Mapped by Literature SNP

Gene related studies (count: 8)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Brookes K, 2006	UNPHASED TDT P-value=0.0959, global P-value=0.828, WHAP TDT P_sum P-value=0.653, no SNP with nominal P-value<0.05 located in this gene	Non-significant
Gizer IR, 2009	The present study does not support a relation between ADHD and this gene.	Non-significant
Guan L, 2009	haplotype association analysis: Nominal P-value=0.037, Empirical P-value=0.293 for ADHD-C. 1 SNP in this gene achieved nominal significance for ADHD-C, and haplotype association test also achieved nominal significance for ADHD-C.	Significant
Barr CL, 2000 (d)	TDT of haplotypes: smallest P=0.317. No significant evidence for either allele of the MscI or MspI polymorphisms or for the haplotypes of these two polymorphisms.	Non-significant
Nyman ES, 2007	No evidence of association was seen.	Non-significant
Payton A, 2001	there was no evidence of preferential transmission of any marker allele for the polymorphism examined in this study	Non-significant
Kirley A, 2002	No preferential transmission of alleles to ADHD children was observed	Non-significant
Muglia P, 2002	Result from this study suggests that DRD3 is not playing a major role in the sample of adult ADHD	Non-significant

Gene related SNPs (count: 40)

Literature-origin SNPs (count: 7)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs1354348	chr3:113906226(Fwd)	intron_variant	1(0/1/0)
rs324029	chr3:113881623(Fwd)	intron_variant	1(0/1/0)
rs2134655	chr3:113858201(Fwd)	intron_variant	1(0/1/0)
rs7638876	chr3:113894300(Fwd)	intron_variant	1(1/0/0)
rs226082	chr3:113881013(Fwd)	intron_variant	1(0/1/0)
rs6280	chr3:113890815(Fwd)	missense_variant	2(0/2/0)
rs167771	chr3:113876275(Fwd)	intron_variant	1(0/1/0)

LD-proxies (count: 33)

rs_ID	Location	Functional Annotation
rs6778623	chr3:113919716(Fwd)	upstream_gene_variant
rs3732791	chr3:113847689(Fwd)	synonymous_variant
rs9824856	chr3:113852731(Fwd)	intron_variant
rs324024	chr3:113890276(Fwd)	intron_variant
rs324030	chr3:113881441(Fwd)	intron_variant
rs7625282	chr3:113881527(Fwd)	intron_variant
rs11721264	chr3:113879404(Fwd)	intron_variant
rs167770	chr3:113879562(Fwd)	intron_variant
rs324026	chr3:113891042(Fwd)	intron_variant
rs324022	chr3:113887298(Fwd)	intron_variant
rs7638961	chr3:113894394(Fwd)	intron_variant
rs10934256	chr3:113885652(Fwd)	intron_variant
rs324036	chr3:113867862(Fwd)	intron_variant
rs1800828	chr3:113891549(Fwd)	intron_variant
rs3773678	chr3:113870078(Fwd)	intron_variant
rs7633291	chr3:113887068(Fwd)	intron_variant
rs6801068	chr3:113910116(Fwd)	intron_variant
rs9825563	chr3:113900220(Fwd)	intron_variant; upstream_gene_variant
rs6762200	chr3:113918633(Fwd)	upstream_gene_variant
rs1587757	chr3:113902835(Fwd)	intron_variant; upstream_gene_variant
rs7629232	chr3:113901818(Fwd)	intron_variant; upstream_gene_variant
rs1394016	chr3:113909889(Fwd)	intron_variant
rs9880494	chr3:113903791(Fwd)	intron_variant
rs16822393	chr3:113880491(Fwd)	intron_variant
rs7631639	chr3:113911226(Fwd)	intron_variant
rs9859762	chr3:113857118(Fwd)	intron_variant
rs7628806	chr3:113917835(Fwd)	intron_variant
rs2654754	chr3:113855796(Fwd)	intron_variant
rs9288991	chr3:113855761(Fwd)	intron_variant
rs9813633	chr3:113908226(Fwd)	intron_variant
rs3732783	chr3:113890789(Fwd)	synonymous_variant
rs1486008	chr3:113888441(Fwd)	intron_variant
rs324035	chr3:113868854(Fwd)	intron_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 2)

Variant Name	Variant Type	Location in Gene	No. of Studies (significant/non-significant/trend)
DRD3_exon1_Ser/Gly	point mutation	exon 1	3 (0/3/0)
DRD3_intron5_MspI	point mutation	intron 5	1 (0/1/0)

Gene related regions (count: 0)

Gene related GO terms (count: 55)

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

GO terms by database search (count: 55)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0048715	negative regulation of oligodendrocyte differentiation	biological process	ISS	3
GO:0035815	positive regulation of renal sodium excretion	biological process	IEA	3
GO:0006874	cellular calcium ion homeostasis	biological process	IDA[7911712]	15
GO:0045471	response to ethanol	biological process	ISS	18
GO:0014059	regulation of dopamine secretion	biological process	ISS	6
GO:0030139	endocytic vesicle	cellular component	IEA	12
GO:0045840	positive regulation of mitosis	biological process	ISS	8
GO:0050883	musculoskeletal movement, spinal reflex action	biological process	ISS	1
GO:0019216	regulation of lipid metabolic process	biological process	IEA	2
GO:0007195	adenylate cyclase-inhibiting dopamine receptor signaling pathway	biological process	IDA[18424554]	3
GO:0008144	drug binding	molecular function	IDA[8413587]; ISS	20
GO:0008542	visual learning	biological process	ISS	12
GO:0007611	learning or memory	biological process	NAS[14681904]	6
GO:0008284	positive regulation of cell proliferation	biological process	IEA	75
GO:0007186	G-protein coupled receptor signaling pathway	biological process	IDA[7911712]	77
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	IEA	141
GO:0005887	integral to plasma membrane	cellular component	IC[8301582]; IDA[8413587]	236
GO:0035176	social behavior	biological process	NAS[12860355]	9
GO:0048148	behavioral response to cocaine	biological process	IEP[8815892]; ISS	7
GO:0042220	response to cocaine	biological process	IEP[10415668]	11
GO:0040012	regulation of locomotion	biological process	IEA	3
GO:0002031	G-protein coupled receptor internalization	biological process	IDA[18424554]	6
GO:0050709	negative regulation of protein secretion	biological process	IDA[16839358]	6
GO:0045177	apical part of cell	cellular component	IEA	11
GO:0032922	circadian regulation of gene expression	biological process	ISS	6
GO:0001975	response to amphetamine	biological process	IEA	16
GO:0042493	response to drug	biological process	ISS	73
GO:0032416	negative regulation of sodium:hydrogen antiporter activity	biological process	IEA	1
GO:0051898	negative regulation of protein kinase B signaling cascade	biological process	ISS	7
GO:0060160	negative regulation of dopamine receptor signaling pathway	biological process	IEA	2
GO:0045187	regulation of circadian sleep/wake cycle, sleep	biological process	IEA	1
GO:0007612	learning	biological process	NAS[15998189]	13
GO:0001591	dopamine neurotransmitter receptor activity, coupled via Gi/Go	molecular function	IDA[8301582]; ISS	3
GO:0007191	adenylate cyclase-activating dopamine receptor signaling pathway	biological process	IDA[18424554]	5
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	biological process	IEA	90
GO:0007626	locomotory behavior	biological process	ISS	26
GO:0005515	protein binding	molecular function	IPI[10692483]	1015
GO:0001963	synaptic transmission, dopaminergic	biological process	IEA	7
GO:0045776	negative regulation of blood pressure	biological process	ISS	6
GO:0005886	plasma membrane	cellular component	IDA[18424554]; TAS	839
GO:0060161	positive regulation of dopamine receptor signaling pathway	biological process	ISS	1
GO:0042995	cell projection	cellular component	IEA	12
GO:0060134	prepulse inhibition	biological process	IMP[18325483]	10
GO:0019904	protein domain specific binding	molecular function	IEA	43
GO:0002016	regulation of blood volume by renin-angiotensin	biological process	IEA	1
GO:0034776	response to histamine	biological process	IDA[16839358]	3
GO:0040014	regulation of multicellular organism growth	biological process	IEA	5
GO:0042417	dopamine metabolic process	biological process	IC[8301582]	5
GO:0030814	regulation of cAMP metabolic process	biological process	IDA[8666994]	2
GO:0043278	response to morphine	biological process	ISS	9
GO:0046717	acid secretion	biological process	ISS	1
GO:0007194	negative regulation of adenylate cyclase activity	biological process	IDA[7907363]	10
GO:0051584	regulation of dopamine uptake involved in synaptic transmission	biological process	IC[8301582]	4
GO:0050482	arachidonic acid secretion	biological process	IDA[8301582]	7
GO:0035240	dopamine binding	molecular function	IEA	8

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04080	Neuroactive ligand-receptor interaction	89

Genes shared at least 5 GO terms with DRD3 (count: 38)

Gene Symbol	Pathway Count	Pathway List
DRD2	33	positive regulation of renal sodium excretion; cellular calcium ion homeostasis; regulation of dopamine secretion; endocytic vesicle; adenylate cyclase-inhibiting dopamine receptor signaling pathway; drug binding; visual learning; positive regulation of transcription from RNA polymerase II promoter; integral to plasma membrane; behavioral response to cocaine; response to cocaine; G-protein coupled receptor internalization; negative regulation of protein secretion; circadian regulation of gene expression; response to amphetamine; response to drug; negative regulation of protein kinase B signaling cascade; negative regulation of dopamine receptor signaling pathway; dopamine neurotransmitter receptor activity, coupled via Gi/Go; locomotory behavior; protein binding; synaptic transmission, dopaminergic; negative regulation of blood pressure; plasma membrane; prepulse inhibition; response to histamine; dopamine metabolic process; regulation of cAMP metabolic process; response to morphine; negative regulation of adenylate cyclase activity; regulation of dopamine uptake involved in synaptic transmission; arachidonic acid secretion; dopamine binding;
DRD4	17	cellular calcium ion homeostasis; adenylate cyclase-inhibiting dopamine receptor signaling pathway; drug binding; integral to plasma membrane; social behavior; behavioral response to cocaine; negative regulation of protein secretion; response to amphetamine; dopamine neurotransmitter receptor activity, coupled via Gi/Go; protein binding; synaptic transmission, dopaminergic; plasma membrane; response to histamine; dopamine metabolic process; negative regulation of adenylate cyclase activity; arachidonic acid secretion; dopamine binding;
DRD1	13	visual learning; integral to plasma membrane; behavioral response to cocaine; response to amphetamine; response to drug; adenylate cyclase-activating dopamine receptor signaling pathway; protein binding; synaptic transmission, dopaminergic; plasma membrane; prepulse inhibition; dopamine metabolic process; regulation of dopamine uptake involved in synaptic transmission; dopamine binding;
SLC6A3	10	response to ethanol; drug binding; integral to plasma membrane; response to cocaine; response to drug; locomotory behavior; protein binding; plasma membrane; prepulse inhibition; dopamine binding;
ADORA2A	9	positive regulation of renal sodium excretion; integral to plasma membrane; response to amphetamine; response to drug; locomotory behavior; protein binding; synaptic transmission, dopaminergic; plasma membrane; prepulse inhibition;
DRD5	9	cellular calcium ion homeostasis; integral to plasma membrane; response to cocaine; response to amphetamine; adenylate cyclase-activating dopamine receptor signaling pathway; synaptic transmission, dopaminergic; negative regulation of blood pressure; plasma membrane; dopamine binding;
GRIN2A	9	response to ethanol; visual learning; learning or memory; integral to plasma membrane; response to amphetamine; response to drug; protein binding; plasma membrane; dopamine metabolic process;
HTR1B	9	response to ethanol; regulation of dopamine secretion; drug binding; G-protein coupled receptor signaling pathway; integral to plasma membrane; response to cocaine; G-protein coupled receptor internalization; response to drug; plasma membrane;
TH	9	response to ethanol; social behavior; response to amphetamine; learning; locomotory behavior; protein binding; synaptic transmission, dopaminergic; protein domain specific binding; dopamine binding;
ADRA1B	8	visual learning; G-protein coupled receptor signaling pathway; integral to plasma membrane; behavioral response to cocaine; response to amphetamine; locomotory behavior; plasma membrane; response to morphine;
CNR1	7	response to ethanol; drug binding; integral to plasma membrane; response to cocaine; negative regulation of blood pressure; plasma membrane; response to morphine;
SNCA	7	regulation of dopamine secretion; behavioral response to cocaine; regulation of locomotion; response to drug; protein binding; plasma membrane; protein domain specific binding;
NRXN1	7	endocytic vesicle; integral to plasma membrane; social behavior; learning; protein binding; plasma membrane; prepulse inhibition;
GRIN2B	6	response to ethanol; learning or memory; integral to plasma membrane; learning; protein binding; plasma membrane;
TJP1	6	response to ethanol; apical part of cell; response to drug; protein binding; plasma membrane; protein domain specific binding;
HTR2A	6	regulation of dopamine secretion; drug binding; positive regulation of cell proliferation; integral to plasma membrane; response to drug; plasma membrane;
SLC18A2	6	drug binding; integral to plasma membrane; response to cocaine; response to amphetamine; locomotory behavior; plasma membrane;
CHRM1	6	drug binding; positive regulation of cell proliferation; G-protein coupled receptor signaling pathway; integral to plasma membrane; regulation of locomotion; plasma membrane;
ADRA2A	6	positive regulation of cell proliferation; G-protein coupled receptor signaling pathway; integral to plasma membrane; protein binding; plasma membrane; negative regulation of adenylate cyclase activity;
OXTR	6	integral to plasma membrane; social behavior; response to cocaine; response to amphetamine; response to drug; plasma membrane;
OPRM1	6	integral to plasma membrane; adenylate cyclase-activating dopamine receptor signaling pathway; locomotory behavior; protein binding; plasma membrane; negative regulation of adenylate cyclase activity;
HES1	5	negative regulation of oligodendrocyte differentiation; positive regulation of cell proliferation; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter; protein binding;
CASR	5	cellular calcium ion homeostasis; G-protein coupled receptor signaling pathway; integral to plasma membrane; protein binding; plasma membrane;
ABAT	5	response to ethanol; behavioral response to cocaine; response to drug; locomotory behavior; negative regulation of blood pressure;
LPAR1	5	endocytic vesicle; G-protein coupled receptor signaling pathway; integral to plasma membrane; protein binding; plasma membrane;
APOA1	5	endocytic vesicle; G-protein coupled receptor signaling pathway; response to drug; protein binding; plasma membrane;
ABCA1	5	endocytic vesicle; G-protein coupled receptor signaling pathway; integral to plasma membrane; protein binding; plasma membrane;
INS	5	positive regulation of mitosis; positive regulation of cell proliferation; G-protein coupled receptor signaling pathway; negative regulation of protein secretion; protein binding;
LRP5	5	positive regulation of mitosis; positive regulation of cell proliferation; positive regulation of transcription from RNA polymerase II promoter; protein binding; plasma membrane;
ADRB1	5	drug binding; integral to plasma membrane; protein binding; plasma membrane; dopamine binding;
RELA	5	positive regulation of cell proliferation; positive regulation of transcription from RNA polymerase II promoter; response to drug; protein binding; response to morphine;
EDNRA	5	positive regulation of cell proliferation; G-protein coupled receptor signaling pathway; integral to plasma membrane; plasma membrane; response to morphine;
ADAM17	5	positive regulation of cell proliferation; integral to plasma membrane; response to drug; protein binding; plasma membrane;
BDKRB2	5	G-protein coupled receptor signaling pathway; integral to plasma membrane; protein binding; plasma membrane; arachidonic acid secretion;
FLCN	5	positive regulation of transcription from RNA polymerase II promoter; negative regulation of protein kinase B signaling cascade; negative regulation of transcription from RNA polymerase II promoter; protein binding; plasma membrane;
HTR6	5	integral to plasma membrane; response to drug; learning; protein binding; plasma membrane;
GHR	5	integral to plasma membrane; protein binding; plasma membrane; regulation of multicellular organism growth; response to morphine;
SLC6A4	5	integral to plasma membrane; social behavior; response to drug; protein binding; plasma membrane;

Genes shared at least 2 KEGG pathways with DRD3 (count: 0)

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Region: chr3:113847499..113918254 View in gBrowse