Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

ADD to My Gene Set

Comment on Gene

View All Comments on Gene

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	CSNK2A2	NO	in vitro	9045708
SLC18A2	CSNK1A1	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

View in gBrowse

Region: chr10:117241093..117279430 View in gBrowse