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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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SLC18A2
solute carrier family 18 member A2
Chromosome 10 Β· 10q25.3
NCBI Gene: 6571Ensembl: ENSG00000165646.15HGNC: HGNC:10935UniProt: Q05940
109PubMed Papers
21Diseases
14Drugs
13Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
serotonin uptakehistamine uptakemonoamine:proton antiporter activityprotein bindingbrain dopamine-serotonin vesicular transport diseaseInfantile dystonia-parkinsonismattention deficit hyperactivity disorderHuntington disease
✦AI Summary

SLC18A2 encodes vesicular monoamine transporter 2 (VMAT2), an electrogenic antiporter that packages monoamine neurotransmitters into synaptic vesicles for storage and exocytotic release 1. VMAT2 exchanges one cationic monoamine with two intravesicular protons, utilizing the proton gradient established by V-ATPase to accumulate high concentrations of dopamine, serotonin, noradrenaline, and histamine 2. This process is essential for proper monoaminergic neurotransmission, regulating both quantal size and synaptic transmission efficacy 1. Dysfunction of SLC18A2 is implicated in multiple neurological disorders. Reduced SLC18A2 expression correlates with Parkinson's disease pathology, appearing depleted in dopaminergic neurons and supporting glia in affected substantia nigra 3. Loss-of-function variants cause infantile-onset parkinsonism-dystonia 4. Additionally, SLC18A2 variants associate with tardive dyskinesia risk in antipsychotic-treated patients 5, and polymorphisms influence methamphetamine use disorder susceptibility and severity 6. Clinically, VMAT2 inhibitors (tetrabenazine, deutetrabenazine, valbenazine) represent FDA-approved therapeutics for hyperkinetic movement disorders including Huntington's disease and tardive syndromes, reducing excessive dopamine and serotonin release 78. Recent structural studies elucidate distinct drug inhibition mechanisms, enabling rational design of improved therapeutics 2.

Sources cited
1
VMAT2 accumulates monoamines in presynaptic vesicles; transports serotonin, dopamine, and other monoamines; cryo-EM structures reveal transport cycle and drug inhibition mechanisms
PMID: 38081299
2
VMAT2 packs monoamines into vesicles for synaptic release; structures show tetrabenazine and reserpine inhibition mechanisms and serotonin substrate binding
PMID: 37914936
3
SLC18A2 expression is significantly depleted in Parkinson's disease substantia nigra in dopaminergic neurons and supporting glial cells
PMID: 38245794
4
Homozygous loss-of-function variants in SLC18A2 identified in families with neurogenetic disorders including brain malformations
PMID: 26539891
5
VMAT2 inhibitors (tetrabenazine, deutetrabenazine, valbenazine) show therapeutic efficacy in hyperkinetic movement disorders including Huntington's disease and tardive dyskinesia
PMID: 40783291
6
VMAT2 inhibitors valbenazine and deutetrabenazine FDA-approved for treating tardive syndromes by reducing dopamine stimulation
PMID: 31356294
7
SLC18A2 polymorphisms are genetic targets for tardive dyskinesia risk in antipsychotic treatment
PMID: 34129738
8
SLC18A2 variants and lower mRNA expression associated with methamphetamine use disorder severity and inhibitory control performance
PMID: 39394974
Disease Associationsβ“˜21
brain dopamine-serotonin vesicular transport diseaseOpen Targets
0.69Moderate
Infantile dystonia-parkinsonismOpen Targets
0.64Moderate
attention deficit hyperactivity disorderOpen Targets
0.61Moderate
Huntington diseaseOpen Targets
0.59Moderate
movement disorderOpen Targets
0.58Moderate
hypertensionOpen Targets
0.56Moderate
choreaOpen Targets
0.55Moderate
obesityOpen Targets
0.52Moderate
Alzheimer diseaseOpen Targets
0.51Moderate
narcolepsy-cataplexy syndromeOpen Targets
0.50Moderate
drug dependenceOpen Targets
0.48Moderate
multiple sclerosisOpen Targets
0.46Moderate
arteriosclerosis disorderOpen Targets
0.46Moderate
genetic disorderOpen Targets
0.45Moderate
Parkinson diseaseOpen Targets
0.43Moderate
neurodegenerative diseaseOpen Targets
0.41Moderate
lysosomal storage diseaseOpen Targets
0.41Moderate
schizophreniaOpen Targets
0.40Weak
eating disorderOpen Targets
0.39Weak
binge eatingOpen Targets
0.37Weak
Parkinsonism-dystonia 2, infantile-onsetUniProt
Pathogenic Variants13
NM_003054.6(SLC18A2):c.1184T>C (p.Ile395Thr)Likely pathogenic
Brain dopamine-serotonin vesicular transport disease
β˜…β˜†β˜†β˜†2025β†’ Residue 395
NM_003054.6(SLC18A2):c.464+2T>CLikely pathogenic
Brain dopamine-serotonin vesicular transport disease
β˜…β˜†β˜†β˜†2025
NM_003054.6(SLC18A2):c.700+2T>GLikely pathogenic
Brain dopamine-serotonin vesicular transport disease
β˜…β˜†β˜†β˜†2025
NM_003054.6(SLC18A2):c.1160C>T (p.Pro387Leu)Likely pathogenic
Brain dopamine-serotonin vesicular transport disease
β˜…β˜†β˜†β˜†2024β†’ Residue 387
NM_003054.6(SLC18A2):c.605del (p.Ala202fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 202
NM_003054.6(SLC18A2):c.424C>T (p.Gln142Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 142
NM_003054.6(SLC18A2):c.46_55del (p.Arg16fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 16
NM_003054.6(SLC18A2):c.216dup (p.Asp73fs)Pathogenic
not provided|Brain dopamine-serotonin vesicular transport disease
β˜…β˜†β˜†β˜†2022β†’ Residue 73
NM_003054.4(SLC18A2):c.835_836delAGPathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2015
NM_003054.6(SLC18A2):c.895G>C (p.Gly299Arg)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2015β†’ Residue 299
NM_003054.6(SLC18A2):c.711del (p.Phe238fs)Likely pathogenic
Abnormal brain morphology
β˜…β˜†β˜†β˜†β†’ Residue 238
NM_003054.6(SLC18A2):c.946C>G (p.Pro316Ala)Pathogenic
Abnormal dense granules;Abnormal dense granule content|Brain dopamine-serotonin vesicular transport disease
β˜†β˜†β˜†β˜†2023β†’ Residue 316
NM_003054.6(SLC18A2):c.240_244del (p.Ser80_Tyr81insTer)Pathogenic
Brain dopamine-serotonin vesicular transport disease
β˜†β˜†β˜†β˜†2023β†’ Residue 80
View on ClinVar β†—
Drug Targets14
BENZPHETAMINEApproved
Synaptic vesicular amine transporter inhibitor
obesity
BENZPHETAMINE HYDROCHLORIDEApproved
Synaptic vesicular amine transporter inhibitor
obesity
DESERPIDINEApproved
Synaptic vesicular amine transporter inhibitor
hypertension
DEUTETRABENAZINEApproved
Synaptic vesicular amine transporter inhibitor
chorea
DEXTROAMPHETAMINEApproved
Synaptic vesicular amine transporter inhibitor
attention deficit hyperactivity disorder
DEXTROAMPHETAMINE SACCHARATEApproved
Synaptic vesicular amine transporter inhibitor
attention deficit hyperactivity disorder
DEXTROAMPHETAMINE SULFATEApproved
Synaptic vesicular amine transporter inhibitor
LISDEXAMFETAMINEApproved
Dopamine transporter releasing agent
attention deficit hyperactivity disorder
LISDEXAMFETAMINE DIMESYLATEApproved
Dopamine transporter releasing agent
RESCINNAMINEApproved
Synaptic vesicular amine transporter inhibitor
hypertension
RESERPINEApproved
Synaptic vesicular amine transporter inhibitor
hypertension
TETRABENAZINEApproved
Synaptic vesicular amine transporter inhibitor
VALBENAZINEPhase III
Synaptic vesicular amine transporter inhibitor
movement disorder
VALBENAZINE TOSYLATEApproved
Synaptic vesicular amine transporter inhibitor
Related Genes
SLC17A7Protein interaction100%SLC17A6Protein interaction99%SLC17A8Protein interaction98%NR4A2Protein interaction97%RAB3AProtein interaction97%SLC6A3Protein interaction96%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
38%
Ovary
24%
Lung
22%
Liver
4%
Heart
4%
Gene Interaction Network
Click a node to explore
SLC18A2SLC17A7SLC17A6SLC17A8NR4A2RAB3ASLC6A3
PROTEIN STRUCTURE
Preparing viewer…
PDB8JSW Β· 2.84 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.68LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.49 [0.35–0.68]
RankingsWhere SLC18A2 stands among ~20K protein-coding genes
  • #4,383of 20,598
    Most Researched109 Β· top quartile
  • #119of 1,025
    FDA-Approved Drug Targets13 Β· top quartile
  • #2,587of 5,498
    Most Pathogenic Variants13
  • #5,060of 17,882
    Most Constrained (LOEUF)0.68
Genes detectedSLC18A2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Unravelling cell type-specific responses to Parkinson's Disease at single cell resolution.
PMID: 38245794
Mol Neurodegener Β· 2024
1.00
2
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
PMID: 26539891
Neuron Β· 2015
0.90
3
Transport and inhibition mechanisms of human VMAT2.
PMID: 38081299
Nature Β· 2024
0.80
4
Vesicular monoamine transport inhibitors: current uses and future directions.
PMID: 40783291
Lancet Β· 2025
0.70
5
Associations between methamphetamine use disorder and
PMID: 39394974
Dialogues Clin Neurosci Β· 2024
0.60