SLC39A5: Zinc Transporter and Its Role in Human Disease
Comprehensive genomic and functional analysis of SLC39A5, a zinc transporter implicated in myopia and cancer.
Gene Information Card
| Symbol | SLC39A5 |
|---|---|
| Full Name | Solute Carrier Family 39 Member 5 |
| Gene Type | Protein-coding |
| Chromosomal Location | 12q13.3 |
| NCBI Gene ID | 283375 ncbi.nlm.nih.gov/gene/283375 |
| Ensembl ID | ENSG00000139514 |
| UniProt ID | Q6ZMH5 |
| OMIM ID | 608730 |
| HGNC ID | 17107 |
| Aliases | ZIP5, LZT-Hs7 |
Description
SLC39A5 (Solute Carrier Family 39 Member 5) encodes a zinc transporter protein (ZIP5) that mediates cellular zinc uptake. It is involved in zinc homeostasis, essential for growth, development, and immune function. Mutations in SLC39A5 are associated with autosomal dominant high myopia and have been implicated in cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| High Myopia (MYP24) | Loss-of-function mutations impair zinc transport, disrupting retinal development and leading to axial elongation. | OMIM #608730; PMID: 24815299 |
| Colorectal Cancer | Altered SLC39A5 expression affects zinc levels, influencing cell proliferation and invasion. | COSMIC; PMID: 29187737 |
| Hepatocellular Carcinoma | Downregulation of SLC39A5 correlates with poor prognosis and altered zinc metabolism. | PMID: 31525634 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small Intestine | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Liver | 6.1 | Low |
| Pancreas | 4.7 | Low |
| Testis | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HepG2 | 9.8 | Moderate expression |
| Caco-2 | 7.4 | Moderate expression |
| MCF7 | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.211C>T (p.Arg71Cys) | Missense | <0.01% | Impaired zinc transport; associated with myopia |
| c.568G>A (p.Gly190Arg) | Missense | <0.01% | Reduced protein stability; myopia |
| c.1000C>T (p.Arg334*) | Nonsense | <0.01% | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations (e.g., p.Arg71Cys, p.Arg334*) reduce or abolish zinc transport activity, leading to myopia.
Gain of Function (GOF)
Not reported in SLC39A5.
Dominant Negative (DN)
Not reported in SLC39A5.
View complete mutation data：
Gene Ontology (GO)
| • zinc ion transmembrane transporter activity (GO:0005385) | • zinc ion transmembrane transport (GO:0071577) |
| • plasma membrane (GO:0005886) | • integral component of membrane (GO:0016021) |
Pathways
• Zinc homeostasis (Reactome: R-HSA-435354)
• Metal ion SLC transporters (KEGG: hsa04976)
Protein Summary
SLC39A5 encodes ZIP5, a transmembrane zinc transporter localized to the plasma membrane. It facilitates zinc influx into cells, regulating intracellular zinc levels critical for enzymatic activity, signaling, and gene expression. ZIP5 is highly expressed in absorptive tissues (small intestine, kidney) and plays a role in ocular development. Dysfunction contributes to myopia and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC39A5 Knockout HEK293 Cell Line | EDJ-KQ15341 | Human | 283375 | Details Get a Quote |
| SLC39A5 Knockout HeLa Cell Line | EDJ-KQ59391 | Human | 283375 | Details Get a Quote |
| SLC39A5 Knockout A-549 Cell Line | EDJ-KQ67857 | Human | 283375 | Details Get a Quote |
| SLC39A5 Knockout HCT 116 Cell Line | EDJ-KQ76238 | Human | 283375 | Details Get a Quote |
