SLC18A2: Vesicular Monoamine Transporter 2 (VMAT2) Gene
A comprehensive biomedical resource on SLC18A2 gene, its function, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | SLC18A2 |
|---|---|
| Full Name | Solute carrier family 18 member A2 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q25.3 |
| NCBI Gene ID | 6571 ncbi.nlm.nih.gov/gene/6571 |
| Ensembl ID | ENSG00000165646 |
| UniProt ID | Q05940 |
| OMIM ID | 193001 |
| HGNC ID | 10935 |
| Aliases | VMAT2, SVMT, VAT2 |
Description
The SLC18A2 gene encodes the vesicular monoamine transporter 2 (VMAT2), a transmembrane protein that packages monoamine neurotransmitters (dopamine, norepinephrine, serotonin, histamine) into synaptic vesicles for exocytotic release. It is critical for neurotransmitter homeostasis and is implicated in neuropsychiatric and movement disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Parkinson disease | Reduced VMAT2 expression leads to decreased vesicular dopamine storage, increasing cytosolic dopamine toxicity and oxidative stress in dopaminergic neurons. | ClinVar, OMIM |
| Schizophrenia | Altered VMAT2 function affects dopaminergic neurotransmission, contributing to psychotic symptoms. | ClinVar, OMIM |
| Substance dependence | VMAT2 modulates reward pathways; genetic variants influence susceptibility to drug addiction. | ClinVar, OMIM |
| Bipolar disorder | Dysregulation of monoamine storage may contribute to mood episodes. | ClinVar, OMIM |
| Infantile parkinsonism-dystonia | Biallelic loss-of-function mutations in SLC18A2 cause severe early-onset movement disorder. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | High | Highest expression in substantia nigra, basal ganglia, and raphe nuclei |
| Adrenal gland | Moderate | Medulla expression |
| Gastrointestinal tract | Low | Enteric neurons |
| Lung | Low | Neuroendocrine cells |
| Kidney | Low | Minimal expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | High | Neuroblastoma cell line, dopaminergic phenotype |
| SK-N-SH | Moderate | Neuroblastoma |
| PC-12 | High | Rat pheochromocytoma, used for neurosecretion studies |
| HEK293 | Low | Transfected for functional assays |
| HepG2 | Low | Hepatocellular carcinoma, minimal endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1304G>A (p.Arg435His) | Missense | Rare | Loss of function; reduced vesicular transport activity |
| c.1003C>T (p.Arg335Ter) | Nonsense | Rare | Loss of function; truncated protein |
| c.1366C>T (p.Arg456Cys) | Missense | Rare | Loss of function; impaired substrate binding |
| c.1129G>A (p.Gly377Ser) | Missense | Rare | Loss of function; altered protein stability |
| c.1186C>T (p.Arg396Trp) | Missense | Rare | Loss of function; reduced transport capacity |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic mutations in SLC18A2 are loss-of-function, leading to reduced monoamine packaging and neurotransmission deficits.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SLC18A2.
Dominant Negative (DN)
No dominant-negative effects have been documented; disease is typically autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • monoamine transmembrane transporter activity | • serotonin transmembrane transporter activity |
| • dopamine transmembrane transporter activity | • vesicle membrane |
| • integral component of synaptic vesicle membrane | • monoamine transport |
| • neurotransmitter transport | • response to amphetamine |
Pathways
• Synaptic vesicle cycle
• Dopaminergic synapse
• Serotonergic synapse
• Neurotransmitter release cycle
Protein Summary
VMAT2 is a 514-amino acid protein with 12 transmembrane domains, localized to synaptic vesicle membranes. It uses a proton gradient to transport monoamines into vesicles. It is a target for drugs like reserpine and tetrabenazine, and its dysfunction is linked to neurodegenerative and psychiatric disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC18A2 Knockout HEK293 Cell Line | EDJ-KQ2302 | Human | 6571 | Details Get a Quote |
| SLC18A2 Knockout HeLa Cell Line | EDJ-KQ54515 | Human | 6571 | Details Get a Quote |
| SLC18A2 Knockout A-549 Cell Line | EDJ-KQ63000 | Human | 6571 | Details Get a Quote |
| SLC18A2 Knockout HCT 116 Cell Line | EDJ-KQ71470 | Human | 6571 | Details Get a Quote |
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