SLC18A2 (solute carrier family 18 member A2)

Gene

• Entrez ID: 6571
• Gene name: Solute carrier family 18 member A2
• Gene symbol: SLC18A2
• Synonyms: PKDYS2, SVAT, SVMT, VAT2, VMAT2
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001975	Process	Response to amphetamine	IEA
GO:0005335	Function	Serotonin:sodium symporter activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005813	Component	Centrosome	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	TAS	8095030
GO:0007268	Process	Chemical synaptic transmission	TAS	15217342
GO:0007269	Process	Neurotransmitter secretion	TAS
GO:0007626	Process	Locomotory behavior	IEA
GO:0008021	Component	Synaptic vesicle	TAS	21563316
GO:0008504	Function	Monoamine transmembrane transporter activity	TAS
GO:0009636	Process	Response to toxic substance	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0015842	Process	Aminergic neurotransmitter loading into synaptic vesicle	IBA	21873635
GO:0015844	Process	Monoamine transport	TAS	8095030
GO:0015872	Process	Dopamine transport	TAS	21563316
GO:0016020	Component	Membrane	TAS	8095030
GO:0022857	Function	Transmembrane transporter activity	IBA	21873635
GO:0030672	Component	Synaptic vesicle membrane	IBA	21873635
GO:0042137	Process	Sequestering of neurotransmitter	NAS	24252804
GO:0043195	Component	Terminal bouton	IBA	21873635
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0051610	Process	Serotonin uptake	IEA
GO:0055085	Process	Transmembrane transport	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	TAS	21563316
GO:1903427	Process	Negative regulation of reactive oxygen species biosynthetic process	NAS	24252804

Other IDs

• MIM: 193001
• HGNC: 10935
• e!Ensembl: ENSG00000165646

Protein

• UniProt ID: 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

• Sequence:

  MALSELALVRWLQESRRSRKLILFIVFLALLLDNMLLTVVVPIIPSYLYSIKHEKNATEI
  QTARPVHTASISDSFQSIFSYYDNSTMVTGNATRDLTLHQTATQHMVTNASAVPSDCPSE
  DKDLLNENVQVGLLFASKATVQLITNPFIGLLTNRIGYPIPIFAGFCIMFVSTIMFAFSS
  SYAFLLIARSLQGIGSSCSSVAGMGMLASVYTDDEERGNVMGIALGGLAMGVLVGPPFGS
  VLYEFVGKTAPFLVLAALVLLDGAIQLFVLQPSRVQPESQKGTPLTTLLKDPYILIAAGS
  ICFANMGIAMLEPALPIWMMETMCSRKWQLGVAFLPASISYLIGTNIFGILAHKMGRWLC
  ALLGMIIVGVSILCIPFAKNIYGLIAPNFGVGFAIGMVDSSMMPIMGYLVDLRHVSVYGS
  VYAIADVAFCMGYAIGPSAGGAIAKAIGFPWLMTIIGIIDILFAPLCFFLRSPPAKEEKM
  AILMDHNCPIKTKMYTQNNIQSYPIGEDEESESD

• Sequence length: 514

Pathways

KEGG:

Synaptic vesicle cycle
Serotonergic synapse
Dopaminergic synapse
Parkinson disease
Cocaine addiction
Amphetamine addiction
Alcoholism

Reactome:

Serotonin Neurotransmitter Release Cycle
Norepinephrine Neurotransmitter Release Cycle
Dopamine Neurotransmitter Release Cycle
Na+/Cl- dependent neurotransmitter transporters

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Dysautonomia	Dysautonomia	rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086, rs1554703061, rs1554703613, rs1319053366, rs1554703851, rs868073099, rs926177767, rs376078668, rs1554695299, rs1554696648, rs1554696934, rs1554699327, rs1554691572, rs1554695846, rs1554697001, rs770668926, rs1554698037, rs759412460, rs1554702142, rs765572951, rs1554702880, rs1554703831, rs760774999, rs1554696650, rs757972943, rs1554703874, rs1554703907, rs571348995
Narcolepsy	Narcolepsy	rs104894574, rs387906655	19629137
Parkinson disease	Parkinsonian Disorders, Autosomal Dominant Juvenile Parkinson Disease, PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE, Parkinson Disease	rs116074753, rs118203903, rs118203904, rs115735611, rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs74315361, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121917767, rs121918104, rs1589451049, rs104893877, rs104893878, rs283413, rs112176450, rs111290936, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs387906942, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106	16269145, 16112329
Parkinsonism-dystonia	PARKINSONISM-DYSTONIA, INFANTILE, 2	rs431905504, rs431905514, rs1571323203	23363473
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	18451639, 23932573, 20815037

Unknown
Disease name	Disease term	dbSNP ID	References
Bipolar disorder	Bipolar Disorder		17427184, 18249496, 16936705
Brain dopamine-serotonin vesicular transport disease	Brain dopamine-serotonin vesicular transport disease
Dysarthria	Dysarthria
Dyssomnia	Dyssomnias
Impaired cognition	Impaired cognition
Orofacial dyskinesia	Lingual-Facial-Buccal Dyskinesia
Mental depression	Mental Depression, Depressive disorder	rs587778876, rs587778877	18797399, 19468717, 16806099, 23697793, 18329002, 23697793, 19468717, 18329002, 18797399, 16806099
Mental depression with psychotic features	Severe major depression with psychotic features		8825897
Nervous system disorder	nervous system disorder		12890883
Parkinsonian disease	Autosomal Dominant Parkinsonism, Autosomal Recessive Parkinsonism, Familial Juvenile Parkinsonism, Parkinsonism, Juvenile		16269145
Ptosis	Blepharoptosis, Ptosis	rs139920573
Ramsay hunt paralysis syndrome	Ramsay Hunt Paralysis Syndrome		16269145
Sleep disorders	Sleep Disorders
Spastic tetraparesis	Spastic tetraparesis	rs35077384