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	SLC18A2
Previous Symbol	VMAT2
Symbol Alias	SVMT, SVAT
Approved Name	solute carrier family 18 (vesicular monoamine), member 2
Location	10q25
Position	chr10:119000584-119038941, +
External Links	HGNC: 10935 Entrez Gene: 6571 Ensembl: ENSG00000165646 UCSC: uc001ldd.1
No. of Studies	2 (significant: 0; non-significant: 2; trend: 0)
Source	Literature-origin; Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 2)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Brookes KJ, 2005 (b)	no SNP showed evidence of association	Non-significant
Brookes K, 2006	UNPHASED TDT P-value=0.084, global P-value=0.83, WHAP TDT P_sum P-value=0.212, no SNP with nominal P-value<0.05 located in this gene	Non-significant

Gene related SNPs (count: 7)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs363225	Chr10:119024502(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)

LD-proxies (count: 6)

rs_ID	Location	Functional Annotation
rs2015586	Chr10:119021737(Fwd)	intron_variant; nc_transcript_variant
rs10377	Chr10:119037009(Fwd)	3_prime_UTR_variant; downstream_gene_variant; nc_transcript_variant; non_coding_exon_variant
rs363230	Chr10:119029515(Fwd)	intron_variant; nc_transcript_variant
rs363224	Chr10:119022573(Fwd)	intron_variant; nc_transcript_variant
rs14240	Chr10:119037071(Fwd)	3_prime_UTR_variant; downstream_gene_variant; nc_transcript_variant; non_coding_exon_variant
rs363223	Chr10:119022561(Fwd)	intron_variant; nc_transcript_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 33)

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

GO terms by database search (count: 33)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0007568	aging	Biological Process		29
GO:0007626	locomotory behavior	Biological Process		24
GO:0008144	drug binding	Molecular Function		19
GO:0008504	monoamine transmembrane transporter activity	Molecular Function	TAS[8095030]	4
GO:0005886	plasma membrane	Cellular Component		772
GO:0005887	integral to plasma membrane	Cellular Component	TAS[8095030]	220
GO:0007268	synaptic transmission	Biological Process		96
GO:0007269	neurotransmitter secretion	Biological Process		18
GO:0001975	response to amphetamine	Biological Process		16
GO:0035690	cellular response to drug	Biological Process		8
GO:0032456	endocytic recycling	Biological Process		4
GO:0042593	glucose homeostasis	Biological Process		18
GO:0042220	response to cocaine	Biological Process		11
GO:0030672	synaptic vesicle membrane	Cellular Component		15
GO:0030073	insulin secretion	Biological Process		7
GO:0031072	heat shock protein binding	Molecular Function		10
GO:0031045	dense core granule	Cellular Component		3
GO:0016020	membrane	Cellular Component	TAS[8095030]	139
GO:0015844	monoamine transport	Biological Process	TAS[8095030]	4
GO:0019899	enzyme binding	Molecular Function		47
GO:0016265	death	Biological Process		2
GO:0009791	post-embryonic development	Biological Process		16
GO:0009635	response to herbicide	Biological Process		3
GO:0015222	serotonin transmembrane transporter activity	Molecular Function		2
GO:0010043	response to zinc ion	Biological Process		6
GO:0043195	terminal bouton	Cellular Component		11
GO:0051412	response to corticosterone stimulus	Biological Process		5
GO:0042594	response to starvation	Biological Process		6
GO:0043025	neuronal cell body	Cellular Component		51
GO:0070083	clathrin-sculpted monoamine transport vesicle membrane	Cellular Component		3
GO:0071242	cellular response to ammonium ion	Biological Process		1
GO:0051589	negative regulation of neurotransmitter transport	Biological Process		1
GO:0055085	transmembrane transport	Biological Process		82

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa05012	Parkinson's disease	22	Parkinson's disease (PD) is a progressive neurodegenerative ...... Parkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic neurons in the substantia nigra. Mutations in alpha-synuclein, UCHL1 (a ubiquitin carboxy-terminal hydrolase L1), parkin, DJ1 (a parkin-associated protein involved with oxidative stress), and PINK1 (a putative serine threonine kinase) are known to cause early-onset PD. These pathogenic mutations are associated with disease through pathogenic pathways that may commonly lead proteasome dysfunction, mitochondrial impairment, and oxidative stress. Point mutations in alpha-synuclein lead to excessive intracellular accumulation and protofibril formation. Decrease in the amount of soluble alpha-synuclein tends to increase free cytoplasmic dopamine and the formation of reactive oxygen species (ROS). Modification of parkin and UCHL1 are associated with the ubiquitin-proteasome system pathway and may increase proteotoxic stress. Mutations in parkin, DJ1, and PINK1 may alter mitochondiral activity, potentially impairing proteasomal function. Environmental toxins such as N-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) and rotenone can cause mitochondrial dysfunction and oxidative stress. More...

Genes shared at least 5 GO terms with SLC18A2 (count: 21)

Gene Symbol	Pathway Count	Pathway List
SLC6A3	11	aging; locomotory behavior; drug binding; monoamine transmembrane transporter activity; plasma membrane; integral to plasma membrane; synaptic transmission; response to cocaine; monoamine transport; neuronal cell body; transmembrane transport;
ADORA2A	7	locomotory behavior; plasma membrane; integral to plasma membrane; response to amphetamine; membrane; enzyme binding; neuronal cell body;
DRD2	7	locomotory behavior; drug binding; plasma membrane; integral to plasma membrane; response to amphetamine; response to cocaine; synaptic vesicle membrane;
TH	7	locomotory behavior; response to amphetamine; cellular response to drug; response to herbicide; response to zinc ion; terminal bouton; response to corticosterone stimulus;
DRD4	7	drug binding; plasma membrane; integral to plasma membrane; response to amphetamine; membrane; terminal bouton; neuronal cell body;
SLC6A2	7	monoamine transmembrane transporter activity; plasma membrane; integral to plasma membrane; synaptic transmission; membrane; monoamine transport; transmembrane transport;
SLC6A1	7	plasma membrane; integral to plasma membrane; synaptic transmission; neurotransmitter secretion; response to cocaine; membrane; transmembrane transport;
DRD3	6	locomotory behavior; drug binding; plasma membrane; integral to plasma membrane; response to amphetamine; response to cocaine;
SYT1	6	plasma membrane; synaptic transmission; neurotransmitter secretion; synaptic vesicle membrane; dense core granule; clathrin-sculpted monoamine transport vesicle membrane;
VAMP2	6	plasma membrane; integral to plasma membrane; synaptic transmission; neurotransmitter secretion; synaptic vesicle membrane; clathrin-sculpted monoamine transport vesicle membrane;
CNR1	5	aging; drug binding; plasma membrane; integral to plasma membrane; response to cocaine;
HTR2A	5	aging; drug binding; plasma membrane; integral to plasma membrane; synaptic transmission;
ADRA1B	5	locomotory behavior; plasma membrane; integral to plasma membrane; response to amphetamine; glucose homeostasis;
CHRNA4	5	locomotory behavior; plasma membrane; synaptic transmission; membrane; neuronal cell body;
DBH	5	locomotory behavior; synaptic transmission; response to amphetamine; glucose homeostasis; membrane;
HTR1B	5	drug binding; plasma membrane; integral to plasma membrane; synaptic transmission; response to cocaine;
SLC6A4	5	monoamine transmembrane transporter activity; plasma membrane; integral to plasma membrane; monoamine transport; serotonin transmembrane transporter activity;
CACNA1C	5	plasma membrane; synaptic transmission; glucose homeostasis; insulin secretion; neuronal cell body;
DRD5	5	plasma membrane; integral to plasma membrane; synaptic transmission; response to amphetamine; response to cocaine;
SLC1A3	5	plasma membrane; synaptic transmission; membrane; neuronal cell body; transmembrane transport;
SLC5A7	5	plasma membrane; synaptic transmission; neurotransmitter secretion; neuronal cell body; transmembrane transport;

Genes shared at least 2 KEGG pathways with SLC18A2 (count: 0)

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Region: chr10:119000584..119038941 View in gBrowse