SLC18A2
Chr 10ARsolute carrier family 18 member A2
Also known as: PKDYS2, SVAT, SVMT, VAT2, VMAT2
The protein is a vesicular monoamine transporter that concentrates neurotransmitters including dopamine, norepinephrine, serotonin, and histamine into synaptic vesicles for regulated release. Autosomal recessive mutations cause infantile parkinsonism-dystonia with onset in early childhood. This gene shows moderate constraint against loss-of-function variants (LOEUF 0.511), reflecting its critical role in monoaminergic neurotransmission.
Primary Disease Associations & Inheritance
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
pubtator: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
282 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 4 | 0 | 26 | 0 | 30 |
Likely Pathogenic | 3 | 4 | 2 | 0 | 9 |
VUS | 1 | 90 | 10 | 0 | 101 |
Likely Benign | 0 | 2 | 43 | 58 | 103 |
Benign | 0 | 3 | 23 | 3 | 29 |
Conflicting | — | 1 | |||
| Total | 8 | 99 | 104 | 61 | 273 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SLC18A2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools