SLC30A4
Solute Carrier Family 30 Member 4
Gene Information Card
| Symbol | SLC30A4 |
|---|---|
| Full Name | Solute Carrier Family 30 Member 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q21.1 |
| NCBI Gene ID | 7782 ncbi.nlm.nih.gov/gene/7782 |
| Ensembl ID | ENSG00000104154 |
| UniProt ID | O14863 |
| OMIM ID | 602095 |
| HGNC ID | 11013 |
| Aliases | ZNT4, ZnT-4 |
Description
SLC30A4 encodes zinc transporter 4 (ZnT-4), a member of the solute carrier family 30. ZnT-4 functions to export zinc from the cytoplasm into intracellular vesicles or across the plasma membrane, thereby maintaining cellular zinc homeostasis. The gene is expressed in various tissues including brain, mammary gland, and prostate. Mutations in SLC30A4 are associated with zinc deficiency disorders and have been implicated in neurodegenerative conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Zinc deficiency (transient neonatal) | Impaired zinc export from mammary epithelial cells leads to low milk zinc | OMIM 602095 |
| Alzheimer disease (potential modifier) | Altered zinc homeostasis in brain may contribute to amyloid plaque formation | NCBI Gene 7782 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Mammary gland | 8.7 | Low |
| Prostate | 15.1 | Medium |
| Testis | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.5 | Moderate expression |
| MCF7 | 7.8 | Low expression |
| SH-SY5Y | 14.2 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.105C>G (p.Cys35Trp) | Missense | <0.01% | Impaired zinc transport |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Cys35Trp) reduce zinc export activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • zinc ion transmembrane transporter activity (GO:0005385) | • zinc ion export across plasma membrane (GO:0071577) |
| • cellular zinc ion homeostasis (GO:0006882) | • integral component of membrane (GO:0016021) |
Pathways
• Zinc homeostasis (Reactome: R-HSA-435354)
Protein Summary
ZnT-4 is a transmembrane protein with six transmembrane domains and a histidine-rich loop, localized to the Golgi apparatus and vesicular membranes. It mediates zinc efflux from the cytoplasm, protecting cells from zinc toxicity and regulating zinc availability for metalloproteins.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC30A4 Knockout HEK293 Cell Line | EDJ-KQ6120 | Human | 7782 | Details Get a Quote |
| SLC30A4 Knockout A-549 Cell Line | EDJ-KQ29875 | Human | 7782 | Details Get a Quote |
| SLC30A4 Knockout HCT 116 Cell Line | EDJ-KQ29876 | Human | 7782 | Details Get a Quote |
| SLC30A4 Knockout HeLa Cell Line | EDJ-KQ29877 | Human | 7782 | Details Get a Quote |
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