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	DRD5
Previous Symbol	DRD1L2
Symbol Alias	DRD1B
Approved Name	dopamine receptor D5
Location	4p16.1
Position	chr4:9783258-9785633, +
External Links	HGNC: 3026 Entrez Gene: 1816 Ensembl: ENSG00000169676 UCSC: uc003gmb.3
No. of Studies	22 (significant: 14; non-significant: 6; trend: 2)
Source	Literature-origin; Mapped by CNV; Mapped by literature SNP

Gene related studies (count: 22)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Feng J, 1998	One previously identified silent polymorphism at base pair 978 (P326P) was identified in the DRD5 gene among ADHD samples.	Trend
Kirley A, 2002	Significant preferential transmission of allele at DRD5 (148bp allele)	Significant
Payton A, 2001	there was a trend for preferential transmission of the DRD5 148 bp marker allele	Non-significant
Barr CL, 2000 (c)	Significant evidence for biased transmission of two alleles, the 136-bp allele and the 146-bp allele, were observed.	Significant
Tahir E, 2000 (b)	no significant evidence was found	Non-significant
Lowe N, 2004 (b)	The joint analysis showed association with the DRD5 locus and this association appears to be confined to the predominantly inattentive and combined clinical subtypes	Significant
Kustanovich V, 2004	an association of a dinucleotide repeat polymorphism near the DRD5 gene with ADHD was replicated.	Significant
Hawi Z, 2003	3 markers within this gene showed significant association with ADHD; minimal 2-marker_haplotype 2.6 (DRD5-1481, DRD5-PCR1) P-value=0.00016, X²(1df)=14.2, global X²=22.4, 11 df, P-value=0.021 which showed significant excess transmission to the ADHD cases; minimal 3-marker_haplotype 2.2.6 (DRD5-1481, D5S1582, DRD5-PCR1) P-value=0.0013, X²(1df)=10.458, global X²=41.8, 25 df, P-value=0.0189 which showed preferentially transmitted to the ADHD cases	Significant
Maher BS, 2002	for DRD5, positive association was demostrated with ADHD in the meta-analysis and there was no support for hetergeneity between studies	Significant
Bobb AJ, 2005	no polymorphism was associated with ADHD	Non-significant
Bakker SC, 2005	DRD5 did not contribute substantially to ADHD in the Dutch population	Non-significant
Manor I, 2004	The current report confirmed taht the most common 148 bp DRD5 microsatellite repeat allele is preferentially transmitted to the ADHD proband	Significant
Mill J, 2004 (a)	significant association for an allele of D4S615 was found, but a global test incorporating all alleles of this marker was not significant.	Significant
Hawi Z, 2005	one marker showed significant overtransmission of paternal alleles; paternal versus maternal transmissions, combined TDT P-value=0.0019, X²=9.6 (1df), OR=1.56; TDT P-value=0.0024, X²=9.2 when DRD5 was removed in sensitivity analysis	Significant
Li D, 2006	DRD5 148-bp showed a significant association, there is a statistically significant association between ADHD and DRD5	Significant
Nyman ES, 2007	No evidence of association was seen.	Non-significant
Johansson S, 2008	a nominally significant overall association between ADHD and the DRD5 microsatellite marker	Significant
Squassina A, 2008	DRD5 (CA)n repeat has a modest effect in modulating susceptibility to adult ADHD	Significant
Langley K, 2009	DRD5 CA(n) microsatellite significantly predicted baseline persistent ADHD diagnosis .	Significant
Gizer IR, 2009	The present study provides significant evidence suggesting an association between childhood ADHD and this gene.	Significant
Lionel, A. C., 2011	Rare inherited CNVs in ADHD probands which absent in controls overlapped with DRD5 which is previously implicated ADHD loci.	Trend
Carpentier, P. J., 2012	No significant association was found.	Non-significant

Gene related SNPs (count: 1)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs2076907	Chr4:9783428(Fwd)	5_prime_UTR_variant; intron_variant; nc_transcript_variant	1(0/1/0)

LD-proxies (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Lionel[2011]_5	chr4:0-0 (NCBI36 / hg18)	482	4p16.1	Gain	P

Gene related other variant (count: 7)

Variant Name	Variant Type	Location in Gene	No. of Studies (significant/non-significant/trend)
DRD5_5'-flanking_(CT/GT/GA)n	microsatellite	5' flanking, 18.5 kb from the 5' end of the gene DRD5	18 (13/5/0)
DRD5_3'-UTR_1481T/C	point mutation	3' UTR	1 (1/0/0)
DRD5_3'-flanking_D4S615	microsatellite	~131 kb 3' of the DRD5 gene	1 (1/0/0)
DRD5_upstream_(TC)n	microsatellite	5' flanking and promoter region, 119-182 bp upstream of the transcriptional start site	2 (0/2/0)
DRD5_T978C	point mutation		1 (0/0/1)
DRD5_5'-flanking_D4S2928	microsatellite	5' flanking, 5.3 cM from the 5' end of the gene DRD5	1 (0/1/0)
DRD5_5'-flanking_D4S1582	microsatellite	5' flanking, 2 cM from the 5' end of the gene DRD5	1 (1/0/0)

Gene related regions (count: 0)

Gene related GO terms (count: 27)

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

GO terms by database search (count: 27)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0060158	phospholipase C-activating dopamine receptor signaling pathway	Biological Process	TAS[9457173]	3
GO:0046960	sensitization	Biological Process		2
GO:0045924	regulation of female receptivity	Biological Process		1
GO:0045776	negative regulation of blood pressure	Biological Process		5
GO:0045762	positive regulation of adenylate cyclase activity	Biological Process	IDA[1826762]; NAS[7727453]	1
GO:0042220	response to cocaine	Biological Process		11
GO:0042060	wound healing	Biological Process		13
GO:0035240	dopamine binding	Molecular Function	IDA[1826762]	8
GO:0072593	reactive oxygen species metabolic process	Biological Process	IDA[16352863]	7
GO:0071870	cellular response to catecholamine stimulus	Biological Process	IDA[18403039]	2
GO:0060292	long term synaptic depression	Biological Process		3
GO:0005886	plasma membrane	Cellular Component	IDA[10531415]	772
GO:0005887	integral to plasma membrane	Cellular Component	NAS[1826762]; TAS[9457173]	220
GO:0001994	norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure	Biological Process		3
GO:0004952	dopamine neurotransmitter receptor activity	Molecular Function	IDA[1826762]	3
GO:0001975	response to amphetamine	Biological Process		16
GO:0001992	regulation of systemic arterial blood pressure by vasopressin	Biological Process		1
GO:0001588	dopamine neurotransmitter receptor activity, coupled via Gs	Molecular Function	TAS[9457173]	2
GO:0001963	synaptic transmission, dopaminergic	Biological Process	NAS[11036203]	7
GO:0031526	brush border membrane	Cellular Component		6
GO:0033861	negative regulation of NAD(P)H oxidase activity	Biological Process	IDA[16352863]	2
GO:0007268	synaptic transmission	Biological Process	NAS[7727453]	96
GO:0008306	associative learning	Biological Process		5
GO:0007190	activation of adenylate cyclase activity	Biological Process	TAS[9457173]	9
GO:0007191	adenylate cyclase-activating dopamine receptor signaling pathway	Biological Process	IDA[18403039]	5
GO:0006874	cellular calcium ion homeostasis	Biological Process	TAS[9457173]	16
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	Biological Process	IDA[11500503]	8

Gene related KEGG pathways (count: 2)

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...

Genes shared at least 5 GO terms with DRD5 (count: 9)

Gene Symbol	Pathway Count	Pathway List
DRD1	14	phospholipase C-activating dopamine receptor signaling pathway; sensitization; dopamine binding; cellular response to catecholamine stimulus; long term synaptic depression; plasma membrane; integral to plasma membrane; dopamine neurotransmitter receptor activity; response to amphetamine; dopamine neurotransmitter receptor activity, coupled via Gs; synaptic transmission, dopaminergic; activation of adenylate cyclase activity; adenylate cyclase-activating dopamine receptor signaling pathway; adenylate cyclase-activating G-protein coupled receptor signaling pathway;
DRD2	10	phospholipase C-activating dopamine receptor signaling pathway; negative regulation of blood pressure; response to cocaine; dopamine binding; plasma membrane; integral to plasma membrane; response to amphetamine; synaptic transmission, dopaminergic; associative learning; cellular calcium ion homeostasis;
DRD3	9	negative regulation of blood pressure; response to cocaine; dopamine binding; plasma membrane; integral to plasma membrane; response to amphetamine; synaptic transmission, dopaminergic; adenylate cyclase-activating dopamine receptor signaling pathway; cellular calcium ion homeostasis;
DRD4	7	dopamine binding; plasma membrane; integral to plasma membrane; dopamine neurotransmitter receptor activity; response to amphetamine; synaptic transmission, dopaminergic; cellular calcium ion homeostasis;
ADRB1	6	wound healing; dopamine binding; plasma membrane; integral to plasma membrane; activation of adenylate cyclase activity; adenylate cyclase-activating G-protein coupled receptor signaling pathway;
ADORA2A	6	plasma membrane; integral to plasma membrane; response to amphetamine; synaptic transmission, dopaminergic; activation of adenylate cyclase activity; adenylate cyclase-activating G-protein coupled receptor signaling pathway;
GNAL	6	plasma membrane; response to amphetamine; synaptic transmission; activation of adenylate cyclase activity; adenylate cyclase-activating dopamine receptor signaling pathway; adenylate cyclase-activating G-protein coupled receptor signaling pathway;
SLC18A2	5	response to cocaine; plasma membrane; integral to plasma membrane; response to amphetamine; synaptic transmission;
SLC6A3	5	response to cocaine; dopamine binding; plasma membrane; integral to plasma membrane; synaptic transmission;

Genes shared at least 2 KEGG pathways with DRD5 (count: 30)

Gene Symbol	Pathway Count	Pathway List
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;
ADRB1	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;
DRD1	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;
GRM1	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
GRM5	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
HTR2A	2	Neuroactive ligand-receptor interaction; Calcium signaling pathway;
HTR2C	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;
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;

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Region: chr4:9783258..9785633 View in gBrowse