SLC30A3 (Zinc Transporter 3)
Solute Carrier Family 30 Member 3: A Key Regulator of Synaptic Zinc Homeostasis
Gene Information Card
| Symbol | SLC30A3 |
|---|---|
| Full Name | Solute Carrier Family 30 Member 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 7781 ncbi.nlm.nih.gov/gene/7781 |
| Ensembl ID | ENSG00000115138 |
| UniProt ID | Q99726 |
| OMIM ID | 602878 |
| HGNC ID | 11015 |
| Aliases | ZNT3, ZnT-3 |
Description
SLC30A3 encodes zinc transporter 3 (ZnT3), a member of the SLC30 family of zinc efflux transporters. ZnT3 is primarily expressed in the brain, where it loads zinc into synaptic vesicles of glutamatergic neurons. This vesicular zinc is released upon neuronal stimulation and modulates synaptic transmission, plasticity, and cognition. ZnT3 is also expressed in the pancreas and testis, but its best-characterized role is in central nervous system zinc homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer Disease | ZnT3 loss reduces synaptic zinc, promoting amyloid-beta aggregation and tau pathology. ZnT3 levels decline early in Alzheimer disease. | PMID: 28806798; PMID: 28459434 |
| Epilepsy | Altered ZnT3 expression affects seizure susceptibility; ZnT3 knockout mice show increased seizure severity. | PMID: 15207222; PMID: 21593315 |
| Autism Spectrum Disorder | SLC30A3 variants and reduced ZnT3 expression are associated with ASD; zinc supplementation rescues some phenotypes in animal models. | PMID: 22543956; PMID: 26997266 |
| Major Depressive Disorder | ZnT3 dysfunction may contribute to altered zinc signaling in depression; reduced ZnT3 in hippocampus of depressed patients. | PMID: 23707618 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | High |
| Brain (hippocampus) | 15.2 | High |
| Brain (cerebellum) | 8.3 | Medium |
| Testis | 4.1 | Low |
| Pancreas | 3.8 | Low |
| Liver | 0.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 10.1 | Neuronal model |
| U-87 MG (glioblastoma) | 6.5 | Glial model |
| HEK 293 (embryonic kidney) | 0.8 | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.208C>T (p.Arg70Cys) | Missense | <0.01% | Reduced zinc transport activity; associated with ASD |
| c.1015G>A (p.Gly339Arg) | Missense | <0.01% | Impaired protein stability; reported in epilepsy |
| c.1192C>T (p.Arg398*) | Nonsense | <0.01% | Loss of function; rare in population databases |
Mutation functional classification
Loss of Function (LOF)
p.Arg398* and p.Gly339Arg reduce or abolish zinc transport, leading to decreased synaptic zinc.
Gain of Function (GOF)
No gain-of-function mutations reported in SLC30A3.
Dominant Negative (DN)
p.Arg70Cys may exert dominant-negative effects by forming non-functional oligomers.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005385 – zinc ion transmembrane transporter activity | • GO:0071577 – zinc ion export across plasma membrane |
| • GO:0006882 – cellular zinc ion homeostasis | • GO:0016324 – apical plasma membrane |
| • GO:0043197 – dendritic spine | • GO:0060076 – excitatory synapse |
Pathways
• Zinc homeostasis (Reactome: R-HSA-435354)
• Metal ion SLC transporters (Reactome: R-HSA-425393)
• Synaptic vesicle cycle (Reactome: R-HSA-525091)
Protein Summary
ZnT3 is a 388-amino acid protein with six transmembrane domains and a histidine-rich loop. It forms homodimers and functions as a zinc/proton antiporter, exporting zinc from the cytosol into synaptic vesicles. ZnT3 is essential for the accumulation of zinc in presynaptic vesicles of glutamatergic neurons. Its expression is regulated by neuronal activity and zinc availability. Loss of ZnT3 leads to a complete absence of histochemically reactive zinc in the brain, impairing synaptic plasticity and memory.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC30A3 Knockout HEK293 Cell Line | EDC08012 | Human | 7781 | Details Get a Quote |
| SLC30A3 Knockout A-549 Cell Line | EDJ-KQ29873 | Human | 7781 | Details Get a Quote |
| SLC30A3 Knockout HCT 116 Cell Line | EDJ-KQ29874 | Human | 7781 | Details Get a Quote |
| SLC30A3 Knockout HeLa Cell Line | EDJ-KQ54794 | Human | 7781 | Details Get a Quote |
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