SLC18A2

Chr 10

solute carrier family 18 member A2

Also known as: PKDYS2, SVAT, SVMT, VAT2, VMAT2

NCBI Gene: 6571ENSG00000165646UniProt: Q05940

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 this gene may be associated with schizophrenia, bipolar disorder, and other neurological/psychiatric ailments. [provided by RefSeq, Jun 2018]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtParkinsonism-dystonia 2, infantile-onset

Clinical highlights

Gene-disease validity (ClinGen)
brain dopamine-serotonin vesicular transport disease · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
27
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.51
LOEUF
Multiple*
Mechanism· predicted
📖
GeneReview available — SLC18A2
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.51LOEUF
pLI 0.076
Z-score 3.42
OE 0.27 (0.15–0.51)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.25Z-score
OE missense 0.80 (0.72–0.89)
240 obs / 301.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.27 (0.15–0.51)
0≤0.351.4
Missense OE?0.80 (0.72–0.89)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 7 / 25.7Missense obs/exp: 240 / 301.2Syn Z: -0.03

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients