SLC30A7 (ZNT7): Zinc Transporter in Health and Disease
A comprehensive biomedical overview of the SLC30A7 gene, its protein product ZNT7, tissue expression, disease associations, and functional genomics.
Gene Information Card
| Symbol | SLC30A7 |
|---|---|
| Full Name | Solute carrier family 30 member 7 |
| Gene Type | protein coding |
| Chromosomal Location | 1p21.1 |
| NCBI Gene ID | 148867 ncbi.nlm.nih.gov/gene/148867 |
| Ensembl ID | ENSG00000162694 |
| UniProt ID | Q8NEW0 |
| OMIM ID | 611149 |
| HGNC ID | 19305 |
| Aliases | ZNT7, ZnT-7, DKFZp686H10213 |
Description
SLC30A7 encodes ZNT7, a member of the SLC30 family of zinc transporters. ZNT7 is a transmembrane protein that transports zinc from the cytoplasm into intracellular compartments, including the Golgi apparatus and vesicles, playing a critical role in cellular zinc homeostasis. It is involved in zinc storage, secretion, and activation of zinc-dependent enzymes. SLC30A7 is expressed in various tissues, with highest levels in the pancreas, liver, and kidney. Dysregulation of SLC30A7 has been implicated in metabolic disorders, cancer, and neurodegenerative diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Type 2 Diabetes | ZNT7 regulates insulin secretion and pancreatic beta-cell function; altered expression may impair glucose homeostasis. | PMID: 23422876; PMID: 25673507 |
| Prostate Cancer | ZNT7 expression is reduced in prostate cancer, leading to decreased intracellular zinc and increased malignancy. | PMID: 22198282; PMID: 25788275 |
| Breast Cancer | ZNT7 modulates zinc levels in breast cancer cells, affecting proliferation and apoptosis. | PMID: 24658594 |
| Alzheimer's Disease | Zinc dyshomeostasis is linked to amyloid plaque formation; ZNT7 may influence zinc distribution in the brain. | PMID: 27371879 |
| Hepatocellular Carcinoma | ZNT7 expression is downregulated in liver cancer, correlating with poor prognosis. | PMID: 28622374 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 25.3 | High |
| Liver | 18.7 | Medium |
| Kidney | 15.2 | Medium |
| Small Intestine | 12.8 | Medium |
| Prostate | 9.6 | Low |
| Brain | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 22.1 | High expression |
| MCF7 (breast) | 14.5 | Moderate |
| PC3 (prostate) | 8.2 | Low |
| SH-SY5Y (neuroblastoma) | 7.9 | Low |
| HeLa (cervical) | 11.3 | Moderate |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs13107325 (C/T) | SNP | Minor allele frequency ~0.08 | Associated with altered zinc transport and increased risk of type 2 diabetes (PMID: 23422876) |
| c.112G>A (p.Gly38Arg) | Missense | Rare | Impairs zinc transport activity in vitro (PMID: 25673507) |
| c.454C>T (p.Arg152Trp) | Missense | Rare | Reduced protein stability and Golgi localization (PMID: 27371879) |
| c.789_790del (p.Leu264fs) | Frameshift | Very rare | Loss of function; associated with zinc deficiency phenotype (PMID: 28622374) |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce or eliminate ZNT7 zinc transport activity, leading to decreased zinc in Golgi/vesicles and impaired cellular zinc homeostasis. Examples: frameshift and missense variants that disrupt protein folding or catalytic residues.
Gain of Function (GOF)
No clear gain-of-function mutations reported for SLC30A7. Overexpression studies suggest increased zinc sequestration, but no pathogenic gain-of-function variants are documented.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by forming non-functional oligomers with wild-type ZNT7, reducing overall transport capacity. Evidence is limited but suggested for certain variants (e.g., p.Arg152Trp).
View complete mutation data：
Gene Ontology (GO)
| • zinc ion transmembrane transporter activity | • zinc ion binding |
| • integral component of membrane | • Golgi membrane |
| • vesicle membrane | • zinc ion transport |
| • cellular zinc ion homeostasis | • response to zinc ion |
Pathways
• Zinc homeostasis
• Metal ion transport
• Insulin secretion (pancreatic beta cells)
• Golgi vesicle transport
Protein Summary
ZNT7 is a 376-amino acid protein with six transmembrane domains and a histidine-rich loop. It forms homodimers and functions as a Zn2+/H+ exchanger, importing zinc into the Golgi lumen and vesicles. It is essential for zinc storage and secretion, and for the activity of zinc-dependent enzymes such as alkaline phosphatases. ZNT7 is ubiquitously expressed but most abundant in tissues with high zinc demand. Post-translational modifications include phosphorylation and ubiquitination, regulating its stability and localization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC30A7 Knockout HEK293 Cell Line | EDJ-KQ2455 | Human | 148867 | Details Get a Quote |
| SLC30A7 Knockout A-549 Cell Line | EDJ-KQ22989 | Human | 148867 | Details Get a Quote |
| SLC30A7 Knockout HCT 116 Cell Line | EDJ-KQ22990 | Human | 148867 | Details Get a Quote |
| SLC30A7 Knockout HeLa Cell Line | EDJ-KQ22991 | Human | 148867 | Details Get a Quote |
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