Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6571
Gene name	Solute carrier family 18 member A2
Gene symbol	SLC18A2
Synonyms (NCBI Gene)	PKDYS2SVATSVMTVAT2VMAT2
Chromosome	10
Chromosome location	10q25.3
Summary	This gene encodes an transmembrane protein that functions as an ATP-dependent transporter of monoamines, such as dopamine, norepinephrine, serotonin, and histamine. This protein transports amine neurotransmitters into synaptic vesicles. Polymorphisms in t

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs762879329	C>-,CC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs767337086	C>A,G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1293033867	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1392638187	C>T	Pathogenic	Coding sequence variant, missense variant
rs1431337923	AG>-	Pathogenic	Splice acceptor variant, coding sequence variant
rs1589981178	C>G	Likely-pathogenic	Coding sequence variant, missense variant

167

Show/Hide all (167)

miRTarBase ID	miRNA	Experiments	Reference
MIRT530883	hsa-miR-6507-5p	PAR-CLIP	22012620
MIRT530882	hsa-miR-431-5p	PAR-CLIP	22012620
MIRT530881	hsa-miR-4639-5p	PAR-CLIP	22012620
MIRT530883	hsa-miR-6507-5p	PAR-CLIP	22012620
MIRT530882	hsa-miR-431-5p	PAR-CLIP	22012620
MIRT530881	hsa-miR-4639-5p	PAR-CLIP	22012620
MIRT1353591	hsa-miR-1238	CLIP-seq
MIRT1353592	hsa-miR-1255a	CLIP-seq
MIRT1353593	hsa-miR-1255b	CLIP-seq
MIRT1353594	hsa-miR-1299	CLIP-seq
MIRT1353595	hsa-miR-141	CLIP-seq
MIRT1353596	hsa-miR-181a	CLIP-seq
MIRT1353597	hsa-miR-181b	CLIP-seq
MIRT1353598	hsa-miR-181c	CLIP-seq
MIRT1353599	hsa-miR-181d	CLIP-seq
MIRT1353600	hsa-miR-200a	CLIP-seq
MIRT1353601	hsa-miR-214	CLIP-seq
MIRT1353602	hsa-miR-219-1-3p	CLIP-seq
MIRT1353603	hsa-miR-2355-5p	CLIP-seq
MIRT1353604	hsa-miR-3126-5p	CLIP-seq
MIRT1353605	hsa-miR-3143	CLIP-seq
MIRT1353606	hsa-miR-3187-3p	CLIP-seq
MIRT1353607	hsa-miR-3617	CLIP-seq
MIRT1353608	hsa-miR-3619-5p	CLIP-seq
MIRT1353609	hsa-miR-3679-3p	CLIP-seq
MIRT1353610	hsa-miR-3926	CLIP-seq
MIRT1353611	hsa-miR-410	CLIP-seq
MIRT1353612	hsa-miR-4262	CLIP-seq
MIRT1353613	hsa-miR-4276	CLIP-seq
MIRT1353614	hsa-miR-4277	CLIP-seq
MIRT1353615	hsa-miR-4302	CLIP-seq
MIRT1353616	hsa-miR-4435	CLIP-seq
MIRT1353617	hsa-miR-4446-5p	CLIP-seq
MIRT1353618	hsa-miR-4480	CLIP-seq
MIRT1353619	hsa-miR-4690-5p	CLIP-seq
MIRT1353620	hsa-miR-4691-5p	CLIP-seq
MIRT1353621	hsa-miR-4693-3p	CLIP-seq
MIRT1353622	hsa-miR-4701-5p	CLIP-seq
MIRT1353623	hsa-miR-4731-3p	CLIP-seq
MIRT1353624	hsa-miR-4771	CLIP-seq
MIRT1353625	hsa-miR-4782-5p	CLIP-seq
MIRT1353626	hsa-miR-4801	CLIP-seq
MIRT1353627	hsa-miR-499a-5p	CLIP-seq
MIRT1353628	hsa-miR-516b	CLIP-seq
MIRT1353629	hsa-miR-520a-5p	CLIP-seq
MIRT1353630	hsa-miR-525-5p	CLIP-seq
MIRT1353631	hsa-miR-543	CLIP-seq
MIRT1353632	hsa-miR-548s	CLIP-seq
MIRT1353633	hsa-miR-571	CLIP-seq
MIRT1353634	hsa-miR-588	CLIP-seq
MIRT1353635	hsa-miR-597	CLIP-seq
MIRT1353636	hsa-miR-641	CLIP-seq
MIRT1353637	hsa-miR-668	CLIP-seq
MIRT1353638	hsa-miR-761	CLIP-seq
MIRT2104639	hsa-miR-124	CLIP-seq
MIRT1353627	hsa-miR-499a-5p	CLIP-seq
MIRT2104640	hsa-miR-506	CLIP-seq
MIRT2104641	hsa-miR-548an	CLIP-seq
MIRT2104642	hsa-miR-567	CLIP-seq
MIRT2329119	hsa-miR-132	CLIP-seq
MIRT2329120	hsa-miR-144	CLIP-seq
MIRT2329121	hsa-miR-212	CLIP-seq
MIRT1353607	hsa-miR-3617	CLIP-seq
MIRT1353636	hsa-miR-641	CLIP-seq
MIRT2459514	hsa-miR-1205	CLIP-seq
MIRT2459515	hsa-miR-1286	CLIP-seq
MIRT2329120	hsa-miR-144	CLIP-seq
MIRT2459516	hsa-miR-146a	CLIP-seq
MIRT2459517	hsa-miR-146b-5p	CLIP-seq
MIRT2459518	hsa-miR-2355-3p	CLIP-seq
MIRT2459519	hsa-miR-3149	CLIP-seq
MIRT2459520	hsa-miR-3655	CLIP-seq
MIRT2459521	hsa-miR-3909	CLIP-seq
MIRT2459522	hsa-miR-3912	CLIP-seq
MIRT2459523	hsa-miR-3925-5p	CLIP-seq
MIRT2459524	hsa-miR-4274	CLIP-seq
MIRT2459525	hsa-miR-4317	CLIP-seq
MIRT2459526	hsa-miR-4418	CLIP-seq
MIRT2459527	hsa-miR-4457	CLIP-seq
MIRT2459528	hsa-miR-4519	CLIP-seq
MIRT2459529	hsa-miR-4524	CLIP-seq
MIRT2459530	hsa-miR-4645-3p	CLIP-seq
MIRT2459531	hsa-miR-4659a-3p	CLIP-seq
MIRT2459532	hsa-miR-4659b-3p	CLIP-seq
MIRT2459533	hsa-miR-4661-5p	CLIP-seq
MIRT2459534	hsa-miR-4666-5p	CLIP-seq
MIRT2459535	hsa-miR-4712-5p	CLIP-seq
MIRT2459536	hsa-miR-4722-5p	CLIP-seq
MIRT1353623	hsa-miR-4731-3p	CLIP-seq
MIRT2459537	hsa-miR-4742-3p	CLIP-seq
MIRT2459538	hsa-miR-4777-3p	CLIP-seq
MIRT1353626	hsa-miR-4801	CLIP-seq
MIRT2459539	hsa-miR-4803	CLIP-seq
MIRT2459540	hsa-miR-509-3-5p	CLIP-seq
MIRT2459541	hsa-miR-509-5p	CLIP-seq
MIRT2459542	hsa-miR-513b	CLIP-seq
MIRT2459543	hsa-miR-548ag	CLIP-seq
MIRT2459544	hsa-miR-548ai	CLIP-seq
MIRT2459545	hsa-miR-556-3p	CLIP-seq
MIRT2459546	hsa-miR-561	CLIP-seq
MIRT2459547	hsa-miR-578	CLIP-seq
MIRT2459548	hsa-miR-642b	CLIP-seq
MIRT2459549	hsa-miR-664	CLIP-seq
MIRT2459550	hsa-miR-676	CLIP-seq
MIRT2459551	hsa-miR-770-5p	CLIP-seq
MIRT2329120	hsa-miR-144	CLIP-seq
MIRT2459516	hsa-miR-146a	CLIP-seq
MIRT2459517	hsa-miR-146b-5p	CLIP-seq
MIRT1353596	hsa-miR-181a	CLIP-seq
MIRT1353597	hsa-miR-181b	CLIP-seq
MIRT1353598	hsa-miR-181c	CLIP-seq
MIRT1353599	hsa-miR-181d	CLIP-seq
MIRT2459518	hsa-miR-2355-3p	CLIP-seq
MIRT1353605	hsa-miR-3143	CLIP-seq
MIRT2623529	hsa-miR-3153	CLIP-seq
MIRT1353607	hsa-miR-3617	CLIP-seq
MIRT2459520	hsa-miR-3655	CLIP-seq
MIRT2459521	hsa-miR-3909	CLIP-seq
MIRT2459522	hsa-miR-3912	CLIP-seq
MIRT2459523	hsa-miR-3925-5p	CLIP-seq
MIRT1353612	hsa-miR-4262	CLIP-seq
MIRT2459530	hsa-miR-4645-3p	CLIP-seq
MIRT2459531	hsa-miR-4659a-3p	CLIP-seq
MIRT2459532	hsa-miR-4659b-3p	CLIP-seq
MIRT2459533	hsa-miR-4661-5p	CLIP-seq
MIRT2459534	hsa-miR-4666-5p	CLIP-seq
MIRT2459535	hsa-miR-4712-5p	CLIP-seq
MIRT1353623	hsa-miR-4731-3p	CLIP-seq
MIRT1353626	hsa-miR-4801	CLIP-seq
MIRT1353631	hsa-miR-543	CLIP-seq
MIRT2459543	hsa-miR-548ag	CLIP-seq
MIRT2459544	hsa-miR-548ai	CLIP-seq
MIRT2459547	hsa-miR-578	CLIP-seq
MIRT2623530	hsa-miR-586	CLIP-seq
MIRT2623531	hsa-miR-606	CLIP-seq
MIRT1353636	hsa-miR-641	CLIP-seq
MIRT2459548	hsa-miR-642b	CLIP-seq
MIRT2459550	hsa-miR-676	CLIP-seq
MIRT2459551	hsa-miR-770-5p	CLIP-seq
MIRT2623532	hsa-miR-802	CLIP-seq
MIRT2329120	hsa-miR-144	CLIP-seq
MIRT2459516	hsa-miR-146a	CLIP-seq
MIRT2459517	hsa-miR-146b-5p	CLIP-seq
MIRT2459518	hsa-miR-2355-3p	CLIP-seq
MIRT1353607	hsa-miR-3617	CLIP-seq
MIRT2459520	hsa-miR-3655	CLIP-seq
MIRT2459521	hsa-miR-3909	CLIP-seq
MIRT2459522	hsa-miR-3912	CLIP-seq
MIRT2459523	hsa-miR-3925-5p	CLIP-seq
MIRT2459530	hsa-miR-4645-3p	CLIP-seq
MIRT2459531	hsa-miR-4659a-3p	CLIP-seq
MIRT2459532	hsa-miR-4659b-3p	CLIP-seq
MIRT2459533	hsa-miR-4661-5p	CLIP-seq
MIRT2459534	hsa-miR-4666-5p	CLIP-seq
MIRT2459535	hsa-miR-4712-5p	CLIP-seq
MIRT1353623	hsa-miR-4731-3p	CLIP-seq
MIRT1353626	hsa-miR-4801	CLIP-seq
MIRT2459543	hsa-miR-548ag	CLIP-seq
MIRT2459544	hsa-miR-548ai	CLIP-seq
MIRT2459547	hsa-miR-578	CLIP-seq
MIRT2623530	hsa-miR-586	CLIP-seq
MIRT2623531	hsa-miR-606	CLIP-seq
MIRT1353636	hsa-miR-641	CLIP-seq
MIRT2459548	hsa-miR-642b	CLIP-seq
MIRT2459550	hsa-miR-676	CLIP-seq
MIRT2459551	hsa-miR-770-5p	CLIP-seq
MIRT2623532	hsa-miR-802	CLIP-seq

Show/Hide all (50)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001975	Process	Response to amphetamine	IEA
GO:0002552	Process	Serotonin secretion by mast cell	IEA
GO:0002553	Process	Histamine secretion by mast cell	IEA
GO:0005335	Function	Serotonin:sodium:chloride symporter activity	IBA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005813	Component	Centrosome	IDA
GO:0005886	Component	Plasma membrane	TAS	8095030
GO:0006836	Process	Neurotransmitter transport	IEA
GO:0006836	Process	Neurotransmitter transport	TAS
GO:0006837	Process	Serotonin transport	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	15217342
GO:0007626	Process	Locomotory behavior	IEA
GO:0008021	Component	Synaptic vesicle	TAS	21563316
GO:0008504	Function	Monoamine transmembrane transporter activity	TAS	8095030
GO:0009636	Process	Response to toxic substance	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0015311	Function	Monoamine:proton antiporter activity	IDA	8643547, 8860238, 23363473
GO:0015842	Process	Aminergic neurotransmitter loading into synaptic vesicle	IBA
GO:0015844	Process	Monoamine transport	TAS	8095030
GO:0015872	Process	Dopamine transport	IEA
GO:0015872	Process	Dopamine transport	TAS	21563316
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	8095030
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0030658	Component	Transport vesicle membrane	IEA
GO:0030667	Component	Secretory granule membrane	ISS
GO:0030672	Component	Synaptic vesicle membrane	IBA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043195	Component	Terminal bouton	IBA
GO:0045202	Component	Synapse	IEA
GO:0051610	Process	Serotonin uptake	IDA	8643547, 23363473
GO:0051615	Process	Histamine uptake	IDA	8860238
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070083	Component	Clathrin-sculpted monoamine transport vesicle membrane	IEA
GO:0070083	Component	Clathrin-sculpted monoamine transport vesicle membrane	TAS
GO:0098691	Component	Dopaminergic synapse	IEA
GO:0098700	Process	Neurotransmitter loading into synaptic vesicle	IEA
GO:0098700	Process	Neurotransmitter loading into synaptic vesicle	NAS	24252804
GO:0098700	Process	Neurotransmitter loading into synaptic vesicle	TAS	21563316
GO:0099123	Process	Somato-dendritic dopamine secretion	ISS
GO:1902600	Process	Proton transmembrane transport	IEA
GO:1903427	Process	Negative regulation of reactive oxygen species biosynthetic process	NAS	24252804

MIM	HGNC	e!Ensembl
193001	10935	ENSG00000165646

Q05940

Protein name

Synaptic vesicular amine transporter (Solute carrier family 18 member 2) (Vesicular amine transporter 2) (VAT2) (Vesicular monoamine transporter 2)

Protein function

Electrogenic antiporter that exchanges one cationic monoamine with two intravesicular protons across the membrane of secretory and synaptic vesicles. Uses the electrochemical proton gradient established by the V-type proton-pump ATPase to accumu

PDB

8JSW , 8JSX , 8JT5 , 8JT9 , 8JTA , 8JTB , 8JTC , 8T69 , 8T6A , 8T6B , 8THR , 8UCJ , 8UCK , 8UCL , 8UCM , 8UCN , 8UCO , 8UCP , 8WLJ , 8WLK , 8WLL , 8WLM , 8WRD , 8WRE , 8WVG , 8X3K , 8XO9 , 8XOA , 8XOB , 9KQ8 , 9KQA , 9KQE

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07690	MFS_1	22 → 422	Major Facilitator Superfamily	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in neuronal and neuroendocrine tissues. Detected in central and peripheral nervous system in particular in axonal and dendritic processes in dopaminergic cells of substantia nigra, histaminergic neuronal cell bodies of substa

Sequence

MALSELALVRWLQESRRSRKLILFIVFLALLLDNMLLTVVVPIIPSYLYSIKHEKNATEI
QTARPVHTASISDSFQSIFSYYDNSTMVTGNATRDLTLHQTATQHMVTNASAVPSDCPSE
DKDLLNENVQVGLLFASKATVQLITNPFIGLLTNRIGYPIPIFAGFCIMFVSTIMFAFSS
SYAFLLIARSLQGIGSSCSSVAGMGMLASVYTDDEERGNVMGIALGGLAMGVLVGPPFGS
VLYEFVGKTAPFLVLAALVLLDGAIQLFVLQPSRVQPESQKGTPLTTLLKDPYILIAAGS
ICFANMGIAMLEPALPIWMMETMCSRKWQLGVAFLPASISYLIGTNIFGILAHKMGRWLC
ALLGMIIVGVSILCIPFAKNIYGLIAPNFGVGFAIGMVDSSMMPIMGYLVDLRHVSVYGS
VYAIADVAFCMGYAIGPSAGGAIAKAIGFPWLMTIIGIIDILFAPLCFFLRSPPAKEEKM
AILMDHNCPIKTKMYTQNNIQSYPIGEDEESESD

Sequence length

514

Interactions

View interactions

	KEGG		Reactome
	Synaptic vesicle cycle Serotonergic synapse Dopaminergic synapse Parkinson disease Cocaine addiction Amphetamine addiction Alcoholism		Serotonin Neurotransmitter Release Cycle Norepinephrine Neurotransmitter Release Cycle Dopamine Neurotransmitter Release Cycle Na+/Cl- dependent neurotransmitter transporters

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal brain morphology	Likely pathogenic	rs762879329	RCV000454269
Abnormal dense granule content	Likely pathogenic; Pathogenic	rs1589981178	RCV001003525
Abnormal dense granules	Likely pathogenic; Pathogenic	rs1589981178	RCV001003525
Brain dopamine-serotonin vesicular transport disease	Pathogenic; Likely pathogenic	rs1265323526, rs2493529639, rs1392638187, rs1589981178	RCV004577023 RCV004577040 RCV004576961 RCV004576976

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs12254490	RCV005921560
Cervical cancer	Benign	rs12254490	RCV005921561
Lung cancer	Benign	rs12254490	RCV005921563
Sarcoma	Benign	rs12254490	RCV005921562
SLC18A2-related disorder	Benign; Likely benign	rs363411, rs761665873, rs375131324, rs363388, rs137920074, rs760128760	RCV003980568 RCV003968663 RCV003941335 RCV003928581 RCV003940677 RCV003895587

Show/Hide Text Mining Associations (34)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	36829221
Brain Injuries Traumatic	Associate	26828714
Carcinoma Neuroendocrine	Associate	16517981
Central Nervous System Vascular Malformations	Associate	26539891
Chromosomal Instability	Associate	23363473
Cognition Disorders	Associate	26828714
Depressive Disorder Major	Associate	24525708
Developmental Disabilities	Associate	23363473
Diabetes Gestational	Associate	40298873
Diabetes Mellitus Type 1	Associate	23221614
Drug Related Side Effects and Adverse Reactions	Associate	27137201, 33465163
Ganglioneuroblastoma	Associate	37885116
Glioblastoma	Associate	33806345
Mental Disorders	Associate	24098749, 24525708
Mood Disorders	Associate	23363473
Movement Disorders	Associate	23363473
Muscular Dystrophy Congenital Producing Arthrogryposis	Associate	16189177
Neoplasm Metastasis	Associate	26715806
Neoplasms	Inhibit	26338179
Neoplasms	Associate	26905753, 33465163, 37885116
Nerve Degeneration	Associate	36835019
Nervous System Diseases	Associate	36835019
Neuroblastoma	Associate	26338179, 33465163, 37541765, 37885116
Neuroendocrine Tumors	Associate	16517981
Parkinson Disease	Associate	16339215, 23369548, 26961748, 27137201, 28336296, 33791366, 38272954
Parkinson Disease Secondary	Associate	23363473
Parkinsonian Disorders	Associate	30446576
Premature Birth	Associate	33858444
Prostatic Neoplasms	Associate	19228741, 28084441
Prostatic Neoplasms	Inhibit	26905753
Psychotic Disorders	Associate	22532702
Schizophrenia	Associate	23932573
Stomach Neoplasms	Associate	26715806
Stress Disorders Post Traumatic	Associate	24525708

SLC18A2 (solute carrier family 18 member A2)