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	DRD1
Approved Name	dopamine receptor D1
Location	5q34-q35
Position	chr5:174867042-174871211, -1
External Links	HGNC: 3020 Entrez Gene: 1812 Ensembl: ENSG00000184845 UCSC: uc003mcz.3
No. of Studies	8 (significant: 5; non-significant: 3; trend: 0)
Source	Literature-origin; Mapped by Literature SNP

Gene related studies (count: 8)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Wang G. X., 2012	SNP rs5326 mapped to this gene showed no association with ADHD in this study.	Non-significant
Nyman ES, 2007	No evidence of association was seen.	Non-significant
Bobb AJ, 2005	revealed significant association of two SNPs with ADHD	Significant
Brookes K, 2006	UNPHASED TDT P-value=0.00847, global P-value=0.0454, WHAP TDT P_sum P-value=0.231, one or more SNPs with nominal P-value<0.05 located in this gene	Significant
Misener VL, 2004 (a)	TRANSMIT haplotype analysis: P=0.22 for GCAT, P=0.045 for CCAT, P=0.008 for GCAC; FBAT analysis of haplotype GCAC: P=0.024 for Parent-reported IN, P=0.03 for Teacher-reported IN, P=0.094 for Parent-reported HI, P=0.169 for Teacher-reported HI; Logistic regression analysis of haplotype GCAC (D1P.6 as proxy): P=0.008 (OR[95% CI]=1.230[1.034¨C1.462]) for Parent-reported IN, P=0.045 (OR[95% CI]=1.175[0.973¨C1.418]) for Teacher-reported IN, P=0.266 (OR[95% CI]=1.050[0.902¨C1.222]) for Parent-reported HI, P=0.259 (OR[95% CI]=0.952[0.821¨C1.104]) for Teacher-reported HI. These findings support the proposed involvement of DRD1 in ADHD.	Significant
Oades RD, 2008	1 SNP showed significant association	Significant
Kirley A, 2002	HHRR: P=0.64 (RR=1.06, OR=1.1); TDT: P=0.708 (OR=1.13); TDT by presence of family history: P=0.509 (OR[95%CI]=1.78[0.48-6.62]); TDT of Paternal and Maternal transmissions: P=0.78 (OR[95%CI]=0.85[0.26-2.78]). No preferential transmission of alleles to ADHD children was observed	Non-significant
Ribases, M., 2012	The single- and multiple-marker analysis in both population and family-based approaches provided preliminary evidence for the contribution of DRD1 to combined-type ADHD in children (P=8.8e-04; OR=1.50 (1.18-1.90) and P=0.0061; OR=1.73 (1.23-2.45)) but not in adults. The replication of the association between DRD1 and ADHD in two European cohorts highlights the validity of our finding and supports the involvement of DRD1 in childhood ADHD.	Significant

Gene related SNPs (count: 16)

Literature-origin SNPs (count: 10)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs5326	chr5:174870196(Fwd)	5_prime_UTR_variant	1(0/1/0)
rs863126	chr5:174863348(Fwd)	downstream_gene_variant	1(1/0/0)
rs835541	chr5:174863576(Fwd)	downstream_gene_variant	1(1/0/0)
rs10061709	chr5:174871055(Fwd)	5_prime_UTR_variant	1(1/0/0)
rs265975	chr5:174862195(Fwd)	downstream_gene_variant	1(0/1/0)
rs4532	chr5:174870150(Fwd)	5_prime_UTR_variant	1(1/0/0)
rs835616	chr5:174863690(Fwd)	downstream_gene_variant	1(1/0/0)
rs265981	chr5:174870902(Fwd)	5_prime_UTR_variant	2(1/1/0)
rs686	chr5:174868700(Fwd)	3_prime_UTR_variant	2(1/1/0)
rs265977	chr5:174863257(Fwd)	downstream_gene_variant	1(1/0/0)

LD-proxies (count: 6)

rs_ID	Location	Functional Annotation
rs265978	chr5:174863905(Fwd)	downstream_gene_variant
rs11749676	chr5:174866298(Fwd)	downstream_gene_variant
rs12518222	chr5:174867169(Fwd)	3_prime_UTR_variant
rs28465440	chr5:174866541(Fwd)	downstream_gene_variant
rs703748	chr5:174866036(Fwd)	downstream_gene_variant
rs265976	chr5:174862420(Fwd)	downstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 4)

Variant Name	Variant Type	Location in Gene	No. of Studies (significant/non-significant/trend)
DRD1_5'-UTR_-48G/A_DdeI	point mutation	5'-UTR	1 (0/1/0)
DRD1_5'-UTR_-800T/C_HaeIII	point mutation	5'-UTR	1 (0/1/0)
DRD1_3'-UTR_+1403T/C_Bsp1286I	point mutation	3'-UTR	1 (0/1/0)
DRD1_upstream_-1251G/C_HaeIII	point mutation	~0.2 kb upstream of one of two promoters for DRD1	1 (0/1/0)

Gene related regions (count: 0)

Gene related GO terms (count: 51)

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

GO terms by database search (count: 51)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0035240	dopamine binding	molecular function	IMP[1282671]	8
GO:0030432	peristalsis	biological process	IEA	4
GO:0006606	protein import into nucleus	biological process	IEA	6
GO:0042493	response to drug	biological process	ISS	73
GO:0001975	response to amphetamine	biological process	IEA	16
GO:0005515	protein binding	molecular function	IPI[15569306]	1015
GO:0021756	striatum development	biological process	IEA	2
GO:0005886	plasma membrane	cellular component	IDA[15569306]; TAS	839
GO:0035106	operant conditioning	biological process	IEA	1
GO:0051482	elevation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway	biological process	IDA[1282671]	5
GO:0007416	synapse assembly	biological process	ISS	7
GO:0015872	dopamine transport	biological process	IEA	3
GO:0030819	positive regulation of cAMP biosynthetic process	biological process	IDA[7838121]	7
GO:0007190	activation of adenylate cyclase activity	biological process	IDA[2168520]	10
GO:0019228	regulation of action potential in neuron	biological process	IEA	4
GO:0042417	dopamine metabolic process	biological process	IC[8301582]	5
GO:0046323	glucose import	biological process	IEA	2
GO:0060158	phospholipase C-activating dopamine receptor signaling pathway	biological process	IDA[1282671]; IGI[17194762]	3
GO:0021853	cerebral cortex GABAergic interneuron migration	biological process	ISS	3
GO:0008542	visual learning	biological process	ISS	12
GO:0051968	positive regulation of synaptic transmission, glutamatergic	biological process	ISS	8
GO:0048148	behavioral response to cocaine	biological process	IEA	7
GO:0060291	long-term synaptic potentiation	biological process	IEA	5
GO:0060292	long term synaptic depression	biological process	IEA	3
GO:0004952	dopamine neurotransmitter receptor activity	molecular function	IDA[1831904]	3
GO:0071870	cellular response to catecholamine stimulus	biological process	IDA[18403039]	2
GO:0007628	adult walking behavior	biological process	ISS	8
GO:0042053	regulation of dopamine metabolic process	biological process	IEA	5
GO:0007617	mating behavior	biological process	ISS	4
GO:0001662	behavioral fear response	biological process	IEA	7
GO:0007191	adenylate cyclase-activating dopamine receptor signaling pathway	biological process	IDA[18403039]	5
GO:0005634	nucleus	cellular component	IEA	877
GO:0001963	synaptic transmission, dopaminergic	biological process	IEA	7
GO:0014002	astrocyte development	biological process	IEA	1
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	biological process	IDA[2144334]	11
GO:0005789	endoplasmic reticulum membrane	cellular component	IEA	159
GO:0001659	temperature homeostasis	biological process	IEA	4
GO:0021542	dentate gyrus development	biological process	IEA	2
GO:0051281	positive regulation of release of sequestered calcium ion into cytosol	biological process	IDA[7838121]	5
GO:0060134	prepulse inhibition	biological process	ISS	10
GO:0019226	transmission of nerve impulse	biological process	ISS	3
GO:0001661	conditioned taste aversion	biological process	IEA	2
GO:0030335	positive regulation of cell migration	biological process	ISS	28
GO:0001588	dopamine neurotransmitter receptor activity, coupled via Gs	molecular function	IDA[2168520]; IMP[7838121]	2
GO:0051584	regulation of dopamine uptake involved in synaptic transmission	biological process	IC[8301582]	4
GO:0007613	memory	biological process	IEA	18
GO:0007625	grooming behavior	biological process	IEA	3
GO:0007187	G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	biological process	IDA[1282671]	19
GO:0005887	integral to plasma membrane	cellular component	IC[2144334]	236
GO:0043268	positive regulation of potassium ion transport	biological process	ISS	3
GO:0046960	sensitization	biological process	IEA	2

Gene related KEGG pathways (count: 3)

ID	Name	No. of Genes in ADHDgene
hsa04540	Gap junction	30
hsa04080	Neuroactive ligand-receptor interaction	89
hsa04020	Calcium signaling pathway	66

Genes shared at least 5 GO terms with DRD1 (count: 27)

Gene Symbol	Pathway Count	Pathway List
DRD2	20	dopamine binding; peristalsis; response to drug; response to amphetamine; protein binding; plasma membrane; elevation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway; synapse assembly; dopamine metabolic process; phospholipase C-activating dopamine receptor signaling pathway; cerebral cortex GABAergic interneuron migration; visual learning; behavioral response to cocaine; adult walking behavior; synaptic transmission, dopaminergic; temperature homeostasis; prepulse inhibition; regulation of dopamine uptake involved in synaptic transmission; grooming behavior; integral to plasma membrane;
DRD5	14	dopamine binding; response to amphetamine; plasma membrane; activation of adenylate cyclase activity; phospholipase C-activating dopamine receptor signaling pathway; long term synaptic depression; dopamine neurotransmitter receptor activity; cellular response to catecholamine stimulus; adenylate cyclase-activating dopamine receptor signaling pathway; synaptic transmission, dopaminergic; adenylate cyclase-activating G-protein coupled receptor signaling pathway; dopamine neurotransmitter receptor activity, coupled via Gs; integral to plasma membrane; sensitization;
DRD3	13	dopamine binding; response to drug; response to amphetamine; protein binding; plasma membrane; dopamine metabolic process; visual learning; behavioral response to cocaine; adenylate cyclase-activating dopamine receptor signaling pathway; synaptic transmission, dopaminergic; prepulse inhibition; regulation of dopamine uptake involved in synaptic transmission; integral to plasma membrane;
DRD4	11	dopamine binding; response to amphetamine; protein binding; plasma membrane; dopamine metabolic process; behavioral response to cocaine; dopamine neurotransmitter receptor activity; regulation of dopamine metabolic process; behavioral fear response; synaptic transmission, dopaminergic; integral to plasma membrane;
ADORA2A	10	response to drug; response to amphetamine; protein binding; plasma membrane; activation of adenylate cyclase activity; positive regulation of synaptic transmission, glutamatergic; synaptic transmission, dopaminergic; adenylate cyclase-activating G-protein coupled receptor signaling pathway; prepulse inhibition; integral to plasma membrane;
ADRB1	9	dopamine binding; protein binding; plasma membrane; positive regulation of cAMP biosynthetic process; activation of adenylate cyclase activity; nucleus; adenylate cyclase-activating G-protein coupled receptor signaling pathway; memory; integral to plasma membrane;
SLC6A3	8	dopamine binding; response to drug; protein binding; plasma membrane; dopamine transport; regulation of dopamine metabolic process; prepulse inhibition; integral to plasma membrane;
GRIN2A	8	response to drug; response to amphetamine; protein binding; plasma membrane; dopamine metabolic process; visual learning; memory; integral to plasma membrane;
TH	7	dopamine binding; response to amphetamine; protein binding; mating behavior; nucleus; synaptic transmission, dopaminergic; memory;
SNCA	7	response to drug; protein binding; plasma membrane; behavioral response to cocaine; long-term synaptic potentiation; nucleus; positive regulation of release of sequestered calcium ion into cytosol;
ADRB3	7	protein binding; plasma membrane; activation of adenylate cyclase activity; nucleus; adenylate cyclase-activating G-protein coupled receptor signaling pathway; G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger; integral to plasma membrane;
HTR6	6	response to drug; protein binding; plasma membrane; long-term synaptic potentiation; G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger; integral to plasma membrane;
OXTR	6	response to drug; response to amphetamine; plasma membrane; positive regulation of synaptic transmission, glutamatergic; memory; integral to plasma membrane;
ADRA1B	6	response to amphetamine; plasma membrane; visual learning; behavioral response to cocaine; nucleus; integral to plasma membrane;
ADRB2	6	protein binding; plasma membrane; activation of adenylate cyclase activity; nucleus; adenylate cyclase-activating G-protein coupled receptor signaling pathway; integral to plasma membrane;
ADAM17	5	response to drug; protein binding; plasma membrane; positive regulation of cell migration; integral to plasma membrane;
HTR2A	5	response to drug; plasma membrane; temperature homeostasis; memory; integral to plasma membrane;
SLC6A4	5	response to drug; protein binding; plasma membrane; memory; integral to plasma membrane;
GNAL	5	response to amphetamine; plasma membrane; activation of adenylate cyclase activity; adenylate cyclase-activating dopamine receptor signaling pathway; adenylate cyclase-activating G-protein coupled receptor signaling pathway;
MC5R	5	protein binding; plasma membrane; positive regulation of cAMP biosynthetic process; G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger; integral to plasma membrane;
GRIN2B	5	protein binding; plasma membrane; behavioral fear response; memory; integral to plasma membrane;
OPRM1	5	protein binding; plasma membrane; adenylate cyclase-activating dopamine receptor signaling pathway; G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger; integral to plasma membrane;
MC2R	5	protein binding; plasma membrane; positive regulation of cAMP biosynthetic process; G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger; integral to plasma membrane;
NRXN1	5	protein binding; plasma membrane; positive regulation of synaptic transmission, glutamatergic; prepulse inhibition; integral to plasma membrane;
MC1R	5	protein binding; plasma membrane; positive regulation of cAMP biosynthetic process; G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger; integral to plasma membrane;
ADRA2A	5	protein binding; plasma membrane; positive regulation of cell migration; integral to plasma membrane; positive regulation of potassium ion transport;
EDNRA	5	plasma membrane; elevation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway; activation of adenylate cyclase activity; positive regulation of release of sequestered calcium ion into cytosol; integral to plasma membrane;

Genes shared at least 2 KEGG pathways with DRD1 (count: 38)

Gene Symbol	Pathway Count	Pathway List
GRM5	3	Gap junction; Neuroactive ligand-receptor interaction; Calcium signaling pathway;
ADRB1	3	Gap junction; Neuroactive ligand-receptor interaction; Calcium signaling pathway;
HTR2A	3	Gap junction; Neuroactive ligand-receptor interaction; Calcium signaling pathway;
HTR2C	3	Gap junction; Neuroactive ligand-receptor interaction; Calcium signaling pathway;
GRM1	3	Gap junction; Neuroactive ligand-receptor interaction; Calcium signaling pathway;
ADCY4	2	Gap junction; Calcium signaling pathway;
ITPR1	2	Gap junction; Calcium signaling pathway;
LPAR1	2	Gap junction; Neuroactive ligand-receptor interaction;
ADCY3	2	Gap junction; Calcium signaling pathway;
ITPR2	2	Gap junction; Calcium signaling pathway;
ADCY2	2	Gap junction; Calcium signaling pathway;
ADCY9	2	Gap junction; Calcium signaling pathway;
PLCB2	2	Gap junction; Calcium signaling pathway;
DRD2	2	Gap junction; Neuroactive ligand-receptor interaction;
PLCB3	2	Gap junction; Calcium signaling pathway;
TACR3	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
GRIN2A	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
BDKRB2	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
HTR4	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
EDNRA	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
HTR6	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
HTR5A	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
LTB4R2	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
CHRM1	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
P2RX3	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
ADRB2	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
ADRA1A	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
ADORA2A	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
CHRM3	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
ADRA1B	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
HTR7	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
OXTR	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
ADRB3	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
CCKAR	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
P2RX6	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
CCKBR	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
DRD5	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
CHRM5	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;

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Region: chr5:174867042..174871211 View in gBrowse