Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	DRD5
Previous Symbol	DRD1L2
Symbol Alias	DRD1B
Approved Name	dopamine receptor D5
Location	4p16.1
Position	chr4:9781680-9784009, 1
External Links	HGNC: 3026 Entrez Gene: 1816 Ensembl: ENSG00000169676 UCSC: uc003gmb.4
No. of Studies	2 (Positive: 0; Negative: 2; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Kirov, G.,1999(a)	Other variant: DRD5_(CT/GT/GA)n	No statistically significant differences were found between transmitted and not transmitted alleles for any of the polymorphisms studied.	Negative	Comment on Study
Muir, W. J.,2001	Other variant: DRD5_D4S615	The data are consistent with an association between markers close to the D5 dopamine receptor and schizophrenia, but not bipolar disorder or unipolar major depression.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 32)

GO terms by PBA (count: 4)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	IDA[10531415]; TAS	360
GO:0005887	integral component of plasma membrane	cellular component	NAS[1826762]; TAS[9457173]	158
GO:0007268	synaptic transmission	biological process	NAS[7727453]	116
GO:0004952	dopamine neurotransmitter receptor activity	molecular function	IDA[1826762]	3

GO terms by database search (count: 28)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0042220	response to cocaine	biological process	IEA	12
GO:0008306	associative learning	biological process	IEA	8
GO:0035240	dopamine binding	molecular function	IDA[1826762]	7
GO:0031526	brush border membrane	cellular component	IEA	5
GO:0010579	positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway	biological process	IBA	16
GO:0045776	negative regulation of blood pressure	biological process	IEA	10
GO:0071870	cellular response to catecholamine stimulus	biological process	IDA[18403039]	3
GO:0007606	sensory perception of chemical stimulus	biological process	IBA	14
GO:0006874	cellular calcium ion homeostasis	biological process	TAS[9457173]	16
GO:0001588	dopamine neurotransmitter receptor activity, coupled via Gs	molecular function	TAS[9457173]	2
GO:0060158	phospholipase C-activating dopamine receptor signaling pathway	biological process	TAS[9457173]	3
GO:0001992	regulation of systemic arterial blood pressure by vasopressin	biological process	IEA	3
GO:0045762	positive regulation of adenylate cyclase activity	biological process	IDA[1826762]; NAS[7727453]	2
GO:0060292	long term synaptic depression	biological process	IEA	5
GO:0019226	transmission of nerve impulse	biological process	IEA	7
GO:0033861	negative regulation of NAD(P)H oxidase activity	biological process	IDA[16352863]	2
GO:0072593	reactive oxygen species metabolic process	biological process	IDA[16352863]	5
GO:0001963	synaptic transmission, dopaminergic	biological process	IBA; NAS[11036203]	8
GO:0007190	activation of adenylate cyclase activity	biological process	TAS[9457173]	12
GO:0007612	learning	biological process	IBA	18
GO:0042060	wound healing	biological process	IEA	9
GO:0007191	adenylate cyclase-activating dopamine receptor signaling pathway	biological process	IDA[1826762]	5
GO:0046960	sensitization	biological process	IEA	2
GO:0008227	G-protein coupled amine receptor activity	molecular function	IBA	4
GO:0001975	response to amphetamine	biological process	IEA	19
GO:0001994	norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure	biological process	IEA	2
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	biological process	IDA[11500503]	11
GO:0045924	regulation of female receptivity	biological process	IEA	1

Gene related KEGG pathways (count: 2)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04020	Calcium signaling pathway	53

KEGG pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04080	Neuroactive ligand-receptor interaction	92

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 3)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
DRD5	GNA13	NO	in vivo	12623966
DRD5	NCS1	NO	yeast 2-hybrid	12351722
DRD5	GABRG2	NO	in vitro;in vivo	10659839

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 2)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
DRD5_(CT/GT/GA)n	duplication		1 (0/1/0)
DRD5_D4S615	microsatellite		1 (0/1/0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 4	chr4:0-190214555	3 (0/3/0)
4p16.1	chr4:6000000-11300000	2 (0/2/0)
4p16	chr4:0-11300000	2 (0/1/1)
4p	chr4:0-50000000	1 (0/1/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 1)

Reference	Description	Result Category
11304828	The data are consistent with an association between markers close to the D5 dopamine receptor and schizophrenia, but not bipolar disorder or unipolar major depression.	Positive

Overlap with SZ from candidate gene intersection analysis (count: 8)

Reference	ID in SZGene	Result Category
9285966	53	Positive
18045777	53	Negative
19673036	53	Positive
19682861	53	Negative
9702739	53	Negative
15635698	53	Negative
11304828	53	Positive
19024005	53	Negative

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 1)

Reference	Description	Category in MDD
11304828	The data are consistent with an association between markers close to the D5 dopamine receptor and schizophrenia, but not bipolar disorder or unipolar major depression.	Positive

Overlap with MDD from candidate gene intersection analysis (count: 0)

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Region: chr4:9781680..9784009 View in gBrowse