SLC39A4
Solute Carrier Family 39 Member 4
Gene Information Card
| Symbol | SLC39A4 |
|---|---|
| Full Name | Solute Carrier Family 39 Member 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q24.3 |
| NCBI Gene ID | 55630 ncbi.nlm.nih.gov/gene/55630 |
| Ensembl ID | ENSG00000147804 |
| UniProt ID | Q6P5W5 |
| OMIM ID | 607059 |
| HGNC ID | 17129 |
| Aliases | AEZ, ZIP4, LZT-Hs4 |
Description
SLC39A4 (Solute Carrier Family 39 Member 4) encodes the zinc transporter ZIP4, a member of the Zrt/Irt-like protein (ZIP) family. ZIP4 is primarily expressed in the apical membrane of enterocytes and is essential for dietary zinc absorption. Mutations in SLC39A4 cause acrodermatitis enteropathica, an autosomal recessive disorder characterized by severe zinc deficiency, dermatitis, diarrhea, and growth retardation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acrodermatitis enteropathica | Loss-of-function mutations impair intestinal zinc uptake, leading to systemic zinc deficiency. | OMIM #201100; ClinVar pathogenic variants |
| Zinc deficiency (acquired) | Reduced SLC39A4 expression or function can contribute to zinc malabsorption. | NCBI Gene; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | 12.5 | High |
| Duodenum | 15.3 | High |
| Kidney | 4.2 | Medium |
| Liver | 2.1 | Low |
| Pancreas | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (intestinal) | 14.0 | Enterocyte model |
| HEK293 (embryonic kidney) | 3.5 | Moderate expression |
| HepG2 (hepatocellular) | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1223_1224insG (p.Gly409fs) | Frameshift | Rare | Loss of function; acrodermatitis enteropathica |
| c.1437G>A (p.Trp479Ter) | Nonsense | Rare | Premature stop; loss of function |
| c.646C>T (p.Arg216Trp) | Missense | Rare | Impaired zinc transport activity |
Mutation functional classification
Loss of Function (LOF)
Most SLC39A4 mutations are loss-of-function, reducing zinc transport capacity and causing acrodermatitis enteropathica.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005385 - zinc ion transmembrane transporter activity | • GO:0071577 - zinc ion transmembrane transport |
| • GO:0016021 - integral component of membrane | • GO:0005886 - plasma membrane |
Pathways
• Zinc transport (Reactome: R-HSA-435354)
• Metal ion SLC transporters (Reactome: R-HSA-425393)
Protein Summary
ZIP4 is a transmembrane protein with eight predicted transmembrane domains, localized to the apical membrane of enterocytes. It mediates high-affinity zinc uptake from the intestinal lumen into cells. The protein contains a histidine-rich intracellular loop involved in metal binding and regulation. Zinc deficiency upregulates SLC39A4 expression via the metal-responsive transcription factor MTF-1.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC39A4 Knockout HEK293 Cell Line | EDJ-KQ15339 | Human | 55630 | Details Get a Quote |
| SLC39A4 Knockout A-549 Cell Line | EDJ-KQ46061 | Human | 55630 | Details Get a Quote |
| SLC39A4 Knockout HCT 116 Cell Line | EDC08391 | Human | 55630 | Details Get a Quote |
| SLC39A4 Knockout HeLa Cell Line | EDJ-KQ44843 | Human | 55630 | Details Get a Quote |
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