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	SLC18A2
Previous Symbol	VMAT2
Symbol Alias	SVMT, SVAT
Approved Name	solute carrier family 18 (vesicular monoamine transporter), member 2
Location	10q25
Position	chr10:117241093-117279430, 1
External Links	HGNC: 10935 Entrez Gene: 6571 Ensembl: ENSG00000165646 UCSC: uc001ldd.2
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Gutierrez, B., 2007	SNP: rs363272, rs363343, rs363387, rs363420 Haplotype: rs363387 - rs363343 - rs363272(T-A-G), rs363387 - rs363343 - rs363272(C-C-A), rs363387 - rs363343 - rs363272(T-C-A), rs363387 - rs363343 - rs363272(C-A-G), rs363387 - rs363420 - rs363272(), rs363387 - rs363420 - rs363343(), rs363387 - rs363420 - rs363343 - rs363272(), rs363420 - rs363272(), rs363420 - rs363343(), rs363420 - rs363343 - rs363272()	SVMT gene or certain regions of it may constitute a genetic substrate of susceptibility for both schizophrenia and bipolar disorder.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 41)

GO terms by PBA (count: 4)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0005887	integral component of plasma membrane	cellular component	TAS[8095030]	158
GO:0007268	synaptic transmission	biological process	TAS[15217342]	116
GO:0016020	membrane	cellular component	TAS[8095030]	137

GO terms by database search (count: 37)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0015222	serotonin transmembrane transporter activity	molecular function	IEA	2
GO:0070083	clathrin-sculpted monoamine transport vesicle membrane	cellular component	TAS	3
GO:0019899	enzyme binding	molecular function	IEA	34
GO:0042220	response to cocaine	biological process	IEA	12
GO:0032456	endocytic recycling	biological process	IEA	2
GO:0043025	neuronal cell body	cellular component	IEA	50
GO:0030672	synaptic vesicle membrane	cellular component	IEA	7
GO:0007626	locomotory behavior	biological process	IEA	23
GO:0031072	heat shock protein binding	molecular function	IEA	6
GO:0007568	aging	biological process	IEA	22
GO:0042594	response to starvation	biological process	IEA	8
GO:0008504	monoamine transmembrane transporter activity	molecular function	TAS[8095030]	5
GO:0010043	response to zinc ion	biological process	IEA	5
GO:0008021	synaptic vesicle	cellular component	TAS[21563316]	13
GO:0042137	sequestering of neurotransmitter	biological process	NAS[24252804]	1
GO:0006837	serotonin transport	biological process	IEA	2
GO:1903427	negative regulation of reactive oxygen species biosynthetic process	biological process	NAS[24252804]	1
GO:0042593	glucose homeostasis	biological process	IEA	19
GO:0009791	post-embryonic development	biological process	IEA	10
GO:0007269	neurotransmitter secretion	biological process	TAS	15
GO:0009635	response to herbicide	biological process	IEA	2
GO:0030073	insulin secretion	biological process	IEA	6
GO:0001975	response to amphetamine	biological process	IEA	19
GO:0008144	drug binding	molecular function	IEA	21
GO:0031045	dense core granule	cellular component	IEA	2
GO:0098700	neurotransmitter loading into synaptic vesicle	biological process	TAS[21563316]	1
GO:0055085	transmembrane transport	biological process	TAS	77
GO:0043195	terminal bouton	cellular component	IEA	17
GO:0051589	negative regulation of neurotransmitter transport	biological process	IEA	1
GO:0051412	response to corticosterone	biological process	IEA	9
GO:0071242	cellular response to ammonium ion	biological process	IEA	1
GO:0035690	cellular response to drug	biological process	IEA	13
GO:0015844	monoamine transport	biological process	TAS[8095030]	6
GO:0015837	amine transport	biological process	IEA	2
GO:0016265	death	biological process	IEA	3
GO:0015872	dopamine transport	biological process	TAS[21563316]	4
GO:0005275	amine transmembrane transporter activity	molecular function	IEA	2

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 2)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
SLC18A2	CSNK1A1	NO	in vitro	9045708
SLC18A2	CSNK2A2	NO	in vitro	9045708

Related other genetic factors

Gene related SNPs (count: 26)

Literature-origin SNPs (count: 4)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs363272	chr10:117270233 - 117270233(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs363387	chr10:117244053 - 117244053(1)	non_coding_transcript_exon_variant; non_coding_transcript_variant; synonymous_variant; upstream_gene_variant	1(0/1/0)
rs363420	chr10:117255420 - 117255420(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs363343	chr10:117255437 - 117255437(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)

LD-proxies (count: 22)

rs_ID	Location	Functional Annotation
rs363271	chr10:117267900 - 117267900(1)	intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs363228	chr10:117267612 - 117267612(1)	intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs363227	chr10:117267055 - 117267055(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs363276	chr10:117274298 - 117274298(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs363275	chr10:117274210 - 117274210(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs2244249	chr10:117272764 - 117272764(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs2532809	chr10:117268571 - 117268571(1)	intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs363333	chr10:117244584 - 117244584(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs363397	chr10:117247874 - 117247874(1)	intron_variant; non_coding_transcript_variant
rs363336	chr10:117248469 - 117248469(1)	intron_variant; non_coding_transcript_variant
rs2283136	chr10:117247434 - 117247434(1)	intron_variant; non_coding_transcript_variant
rs2803815	chr10:117250674 - 117250674(1)	intron_variant; non_coding_transcript_variant
rs363400	chr10:117249385 - 117249385(1)	intron_variant; non_coding_transcript_variant
rs2532805	chr10:117250455 - 117250455(1)	intron_variant; non_coding_transcript_variant
rs363238	chr10:117279248 - 117279248(1)	3_prime_UTR_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs363282	chr10:117278157 - 117278157(1)	3_prime_UTR_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs363278	chr10:117275557 - 117275557(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs363236	chr10:117278860 - 117278860(1)	3_prime_UTR_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs363235	chr10:117278585 - 117278585(1)	3_prime_UTR_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs1860404	chr10:117259666 - 117259666(1)	intron_variant; non_coding_transcript_variant
rs929493	chr10:117259615 - 117259615(1)	intron_variant; non_coding_transcript_variant
rs363220	chr10:117257179 - 117257179(1)	intron_variant; non_coding_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 10	chr10:0-133797422	3 (0/2/1)
10q25-q26	chr10:104000000-133797422	2 (0/0/2)

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
17427184	SVMT gene or certain regions of it may constitute a genetic substrate of susceptibility for both schizophrenia and bipolar disorder.	Positive

Overlap with SZ from candidate gene intersection analysis (count: 3)

Reference	ID in SZGene	Result Category
11443533	86	Negative
17427184	86	Positive
18045777	86	Positive

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 0)

Overlap with MDD from candidate gene intersection analysis (count: 1)

Reference	Description	Category in MDD	Link in MK4MDD
16806099	A specific haplotype in VMAT2, the gene encoding the vesicular monoamine transporter, was significantly associated with depression symptoms in men (p= .007).	Pos	SLC18A2

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Region: chr10:117241093..117279430 View in gBrowse