Gene
SLC18A2
solute carrier family 18 member A2
- HGNC 10935(opens in a new tab)
- Ensembl gene ENSG00000165646(opens in a new tab)
- NCBI Gene 6571(opens in a new tab)
Summary
- Cytogenetic location
- 10q25.3
- Coordinates
- Chromosome 10: 117,241,114–117,279,430 (GRCh38)
- Exons
- 16 exons across 38.3 kb
- Protein
- 514 amino acids
- Also known as
- SVMT, SVAT, VAT2
- Previous symbols
- VMAT2
- MANE Select transcript
- ENST00000644641.2NM_003054.6
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
BH4 Deficiency & Monoamine Neurotransmitter Disorders
- Inborn Disorders of Neurotransmitter Metabolism and Transport
Includes aromatic L-amino acid decarboxylase (AADC) deficiency, tyrosine hydroxylase deficiency and vesicular monoamine transporter (SLC18A2) disease, which can cause movement disorders, low muscle tone and developmental delay.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Knowing allows targeted treatment such as L-dopa for tyrosine hydroxylase deficiency or gene therapy for AADC deficiency.
Dystonia, Myotonia, Paroxysmal Dyskinesia
- Inherited Dystonia
Umbrella term covering inherited dystonias, including DYT-TOR1A early-onset generalized dystonia, DYT-THAP1, myoclonus-dystonia (SGCE) and KMT2B-related dystonia.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
How SLC18A2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 3.8 kb of the gene's 38.3 kb; 1,545 of those bases code for the protein.
How a genome test reads SLC18A2
5
positions in SLC18A2 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 38.3 kb of SLC18A2, introns included, not only the 3.8 kb of exons.
Traits linked to SLC18A2
The Human Phenotype Ontology lists these as features of the rare conditions SLC18A2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Ataxia
- Delayed ability to sit
- Delayed ability to walk
- Difficulty articulating speech
- Difficulty performing quick and alternating movements
- Difficulty sleeping
- Dystonia
- Global developmental delay
Show 15 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). SLC18A2 gene: solute carrier family 18 member A2. Retrieved 17 October 2026, from https://dantelabs.com/genes/slc18a2
Dante Labs. SLC18A2 gene: solute carrier family 18 member A2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/slc18a2
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