SLC18A2 (Q05940) variants and mutations

SLC18A2 (also known as Q05940) is a human protein-coding gene encoding a synaptic vesicular amine transporter protein. It packages dopamine, serotonin, norepinephrine, and other monoamines into acidic secretory vesicles for regulated release. Biallelic loss-of-function variants cause a severe monoamine neurotransmitter disorder, while pharmacologic inhibition is used to treat hyperkinetic movement disorders. This analysis covers 902 SLC18A2 variants and mutations. Of these, 72% have computational variant effect predictions. Disease context includes brain dopamine-serotonin vesicular transport disease, Infantile dystonia-parkinsonism, and attention deficit-hyperactivity disorder. Example SLC18A2 variants include A2G, A2S, and A2V.

Variant analysis overview

Gene: SLC18A2
Protein: Q05940
UniProt accession: Q05940
Organism: Homo sapiens
Variants analyzed: 902
Variant scope: all variants
Completed: 2026-08-18

Variant and mutation evidence

Variant composition: 679 unspecified-consequence records; 108 missense variants; 90 synonymous variants; 3 stop-gained variants; 9 frameshift variants; 2 in-frame insertions; 3 splice-region variants; 4 in-frame deletions; 4 substitution
Prediction scores: 647 variants have prediction scores (72% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: brain dopamine-serotonin vesicular transport disease, Infantile dystonia-parkinsonism, attention deficit-hyperactivity disorder, Huntington disease, movement disorder, choreatic disease, hypertensive disorder, Alzheimer disease, Hypertension, narcolepsy-cataplexy syndrome, Chorea, obesity disorder.

Protein structure and variant hotspots

Protein features: 12 transmembrane segments; 9 binding sites; 4 post-translational modification sites.
Structural context: 408 variants have structural context.
PTM context: 9 variants overlap post-translational modification sites.

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable SLC18A2 variants

Examples include A2G, A2S, A2V, A2T, A2A, L3P, L3Q, L3V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

SLC18A2 analysis run — SLC18A2 (902 variants) — completed 2026-08-18