ADHDgene Database

Hot Results

Quick Search

Keyword:
Type:

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	chr5:174867675-174871163, -
External Links	HGNC: 3020 Entrez Gene: 1812 Ensembl: ENSG00000184845 UCSC: uc003mcz.2
No. of Studies	8 (significant: 5; non-significant: 3; trend: 0)
Source	Literature-origin; Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 8)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Nyman ES, 2007	No evidence of association was seen.	Non-significant
Oades RD, 2008	1 SNP showed significant association	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
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
Wang G. X., 2012	SNP rs5326 mapped to this gene showed no association with ADHD in this study.	Non-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
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

Gene related SNPs (count: 17)

Literature-origin SNPs (count: 12)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs265973	Chr5:174860699(Fwd)		1(0/1/0)
rs265975	Chr5:174862195(Fwd)		1(0/1/0)
rs265977	Chr5:174863257(Fwd)	downstream_gene_variant	1(1/0/0)
rs10061709	Chr5:174871055(Fwd)	5_prime_UTR_variant; upstream_gene_variant	1(1/0/0)
rs265981	Chr5:174870902(Fwd)	5_prime_UTR_variant; upstream_gene_variant	2(1/1/0)
rs267418	Chr5:174880645(Fwd)	upstream_gene_variant	1(0/1/0)
rs686	Chr5:174868700(Fwd)	3_prime_UTR_variant	2(1/1/0)
rs835616	Chr5:174863690(Fwd)	downstream_gene_variant	1(1/0/0)
rs863126	Chr5:174863348(Fwd)	downstream_gene_variant	1(1/0/0)
rs5326	Chr5:174870196(Fwd)	5_prime_UTR_variant	1(0/1/0)
rs4532	Chr5:174870150(Fwd)	5_prime_UTR_variant	1(1/0/0)
rs835541	Chr5:174863576(Fwd)	downstream_gene_variant	1(1/0/0)

LD-proxies (count: 5)

rs_ID	Location	Functional Annotation
rs28465440	Chr5:174866541(Fwd)	downstream_gene_variant
rs12518222	Chr5:174867169(Fwd)	downstream_gene_variant
rs265978	Chr5:174863905(Fwd)	downstream_gene_variant
rs11749676	Chr5:174866298(Fwd)	downstream_gene_variant
rs703748	Chr5:174866036(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_-800T/C_HaeIII	point mutation	5'-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)
DRD1_3'-UTR_+1403T/C_Bsp1286I	point mutation	3'-UTR	1 (0/1/0)
DRD1_5'-UTR_-48G/A_DdeI	point mutation	5'-UTR	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:0015872	dopamine transport	Biological Process		3
GO:0019226	transmission of nerve impulse	Biological Process		3
GO:0008542	visual learning	Biological Process		12
GO:0014002	astrocyte development	Biological Process		1
GO:0021756	striatum development	Biological Process		2
GO:0021853	cerebral cortex GABAergic interneuron migration	Biological Process		3
GO:0019228	regulation of action potential in neuron	Biological Process		4
GO:0021542	dentate gyrus development	Biological Process		2
GO:0030819	positive regulation of cAMP biosynthetic process	Biological Process	IDA[7838121]	7
GO:0035106	operant conditioning	Biological Process		1
GO:0030335	positive regulation of cell migration	Biological Process		29
GO:0030432	peristalsis	Biological Process		4
GO:0042417	dopamine metabolic process	Biological Process	IC[8301582]	5
GO:0042493	response to drug	Biological Process		68
GO:0035240	dopamine binding	Molecular Function	IMP[1282671]	8
GO:0042053	regulation of dopamine metabolic process	Biological Process		5
GO:0048148	behavioral response to cocaine	Biological Process		6
GO:0046960	sensitization	Biological Process		2
GO:0046323	glucose import	Biological Process		2
GO:0043268	positive regulation of potassium ion transport	Biological Process		3
GO:0051968	positive regulation of synaptic transmission, glutamatergic	Biological Process		8
GO:0051584	regulation of dopamine uptake involved in synaptic transmission	Biological Process	IC[8301582]	4
GO:0051482	elevation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway	Biological Process	IDA[1282671]	5
GO:0051281	positive regulation of release of sequestered calcium ion into cytosol	Biological Process	IDA[7838121]	5
GO:0060292	long term synaptic depression	Biological Process		3
GO:0060291	long-term synaptic potentiation	Biological Process		5
GO:0060158	phospholipase C-activating dopamine receptor signaling pathway	Biological Process	IDA[1282671]; IGI[17194762]	3
GO:0060134	prepulse inhibition	Biological Process		10
GO:0071870	cellular response to catecholamine stimulus	Biological Process	IDA[18403039]	2
GO:0001661	conditioned taste aversion	Biological Process		2
GO:0001662	behavioral fear response	Biological Process		7
GO:0001963	synaptic transmission, dopaminergic	Biological Process		7
GO:0001975	response to amphetamine	Biological Process		16
GO:0001588	dopamine neurotransmitter receptor activity, coupled via Gs	Molecular Function	IDA[2168520]; IMP[7838121]	2
GO:0001659	temperature homeostasis	Biological Process		4
GO:0005887	integral to plasma membrane	Cellular Component	IC[2144334]	220
GO:0005886	plasma membrane	Cellular Component	IDA[15569306]	772
GO:0007187	G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	Biological Process	IDA[1282671]	18
GO:0006606	protein import into nucleus	Biological Process		5
GO:0005515	protein binding	Molecular Function	IPI[15569306]	910
GO:0004952	dopamine neurotransmitter receptor activity	Molecular Function	IDA[1831904]	3
GO:0005789	endoplasmic reticulum membrane	Cellular Component		140
GO:0005634	nucleus	Cellular Component		770
GO:0007617	mating behavior	Biological Process		4
GO:0007613	memory	Biological Process		18
GO:0007628	adult walking behavior	Biological Process		8
GO:0007625	grooming behavior	Biological Process		3
GO:0007190	activation of adenylate cyclase activity	Biological Process	IDA[2168520]	9
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	Biological Process	IDA[2144334]	8
GO:0007416	synapse assembly	Biological Process		6
GO:0007191	adenylate cyclase-activating dopamine receptor signaling pathway	Biological Process	IDA[18403039]	5

Gene related KEGG pathways (count: 3)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04080	Neuroactive ligand-receptor interaction	93
hsa04020	Calcium signaling pathway	63	Ca2+ that enters the cell from the outside is a principal so...... Ca2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this external source of signal Ca2+ by activating various entry channels with widely different properties. The voltage-operated channels (VOCs) are found in excitable cells and generate the rapid Ca2+ fluxes that control fast cellular processes. There are many other Ca2+-entry channels, such as the receptor-operated channels (ROCs), for example the NMDA (N-methyl-D-aspartate) receptors (NMDARs) that respond to glutamate. There also are second-messenger-operated channels (SMOCs) and store-operated channels (SOCs). More...
hsa04540	Gap junction	27	Gap junctions contain intercellular channels that allow dire...... Gap junctions contain intercellular channels that allow direct communication between the cytosolic compartments of adjacent cells. Each gap junction channel is formed by docking of two 'hemichannels', each containing six connexins, contributed by each neighboring cell. These channels permit the direct transfer of small molecules including ions, amino acids, nucleotides, second messengers and other metabolites between adjacent cells. Gap junctional communication is essential for many physiological events, including embryonic development, electrical coupling, metabolic transport, apoptosis, and tissue homeostasis. Communication through Gap Junction is sensitive to a variety of stimuli, including changes in the level of intracellular Ca2+, pH, transjunctional applied voltage and phosphorylation/dephosphorylation processes. This figure represents the possible activation routes of different protein kinases involved in Cx43 and Cx36 phosphorylation. More...

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

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

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

Gene Symbol	Pathway Count	Pathway List
ADRB1	3	Neuroactive ligand-receptor interaction; Calcium signaling pathway; Gap junction;
GRM1	3	Neuroactive ligand-receptor interaction; Calcium signaling pathway; Gap junction;
GRM5	3	Neuroactive ligand-receptor interaction; Calcium signaling pathway; Gap junction;
HTR2A	3	Neuroactive ligand-receptor interaction; Calcium signaling pathway; Gap junction;
HTR2C	3	Neuroactive ligand-receptor interaction; Calcium signaling pathway; Gap junction;
ADORA2A	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
ADRA1A	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
ADRA1B	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
ADRA1D	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
ADRB2	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
ADRB3	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
BDKRB2	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
CCKAR	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
CCKBR	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
CHRM1	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
CHRM3	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
CHRM5	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
CHRNA7	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
DRD2	2	Neuroactive ligand-receptor interaction; Gap junction;
DRD5	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
EDNRA	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
GRIN2A	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
HTR4	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
HTR5A	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
HTR6	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
HTR7	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
LPAR1	2	Neuroactive ligand-receptor interaction; Gap junction;
LTB4R2	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
OXTR	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
P2RX3	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
P2RX6	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
TACR3	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
ADCY4	2	Calcium signaling pathway; Gap junction;
ITPR1	2	Calcium signaling pathway; Gap junction;
ITPR2	2	Calcium signaling pathway; Gap junction;
PLCB2	2	Calcium signaling pathway; Gap junction;
PLCB3	2	Calcium signaling pathway; Gap junction;
PRKCB	2	Calcium signaling pathway; Gap junction;

View in gBrowse

Region: chr5:174867675..174871163 View in gBrowse