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SLC18A2

Chr 10q25.3

solute carrier family 18 member A2

Aliases:
SVMT, SVAT, VAT2
MANE:
ENST00000644641.2
OMIM: 193001 ↗NCBI: 6571 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Childhood onset dystonia, chorea or related movement disorder

    BIALLELIC, autosomal or pseudoautosomal

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

  • Likely inborn error of metabolism

    BIALLELIC, autosomal or pseudoautosomal

  • Neurotransmitter disorders

    BIALLELIC, autosomal or pseudoautosomal

  • Undiagnosed metabolic disorders

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • brain dopamine-serotonin vesicular transport disease

    0.69

  • Infantile dystonia-parkinsonism

    0.64

  • attention deficit-hyperactivity disorder

    0.61

  • Huntington disease

    0.59

  • movement disorder

    0.55

  • choreatic disease

    0.54

  • hypertensive disorder

    0.53

  • Alzheimer disease

    0.51

  • Hypertension

    0.51

  • narcolepsy-cataplexy syndrome

    0.50

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Synaptic vesicular amine transporter

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 accumulate high concentrations of monoamines inside the vesicles prior to their release via exocytosis. Transports a variety of catecholamines such as dopamine, adrenaline and noradrenaline, histamine, and indolamines such as serotonin (PubMed:23363473, PubMed:37914936, PubMed:38081299, PubMed:38517752, PubMed:8643547). Regulates the transvesicular monoaminergic gradient that determines the quantal size. Mediates somatodendritic dopamine release in hippocampal neurons, likely as part of a regulated secretory pathway that integrates retrograde synaptic signals (By similarity). Acts as a primary transporter for striatal dopamine loading ensuring impulse-dependent release of dopamine at the synaptic cleft (By similarity). Responsible for histamine and serotonin storage and subsequent corelease from mast cell granules (PubMed:8860238)

Diseases associated with SLC18A2

Curated MONDO disease pages that list SLC18A2 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.