SLC39A2: Zinc Transporter ZIP2
Solute Carrier Family 39 Member 2 – A key regulator of cellular zinc homeostasis
Gene Information Card
| Symbol | SLC39A2 |
|---|---|
| Full Name | Solute Carrier Family 39 Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 29986 ncbi.nlm.nih.gov/gene/29986 |
| Ensembl ID | ENSG00000165775 |
| UniProt ID | Q9NP94 |
| OMIM ID | 608118 |
| HGNC ID | 17122 |
| Aliases | ZIP2, 6A1, ETI-1, ZIP-2 |
Description
SLC39A2 (Solute Carrier Family 39 Member 2) encodes the zinc transporter ZIP2, a member of the Zrt/Irt-like protein (ZIP) family. ZIP2 mediates cellular uptake of zinc from the extracellular space, playing a critical role in maintaining zinc homeostasis. The gene is located on chromosome 14q11.2 and is expressed in various tissues, with highest levels in prostate, skin, and placenta. Mutations and altered expression of SLC39A2 have been implicated in zinc deficiency disorders, immune dysfunction, and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Zinc deficiency | Impaired zinc uptake due to reduced ZIP2 function | ClinVar, OMIM |
| Prostate cancer | Altered zinc transport affecting cell proliferation | COSMIC, literature |
| Skin disorders (e.g., acrodermatitis enteropathica-like) | Defective zinc transport in keratinocytes | OMIM, case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Prostate | 12.5 | Medium |
| Skin | 8.3 | Medium |
| Placenta | 6.7 | Low |
| Small intestine | 4.2 | Low |
| Kidney | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PC-3 (prostate cancer) | 15.2 | High expression |
| HaCaT (keratinocyte) | 9.8 | Moderate expression |
| HEK293 (embryonic kidney) | 5.4 | Low expression |
| HeLa (cervical cancer) | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112G>A (p.Gly38Arg) | Missense | <0.01% | Reduced zinc transport activity |
| c.245T>C (p.Leu82Pro) | Missense | <0.01% | Impaired protein stability |
| c.367delC (p.Leu123fs) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations (e.g., p.Gly38Arg, p.Leu123fs) reduce or abolish zinc transport activity.
Gain of Function (GOF)
No gain-of-function mutations reported in SLC39A2.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • zinc ion transmembrane transporter activity (GO:0005385) | • zinc ion transmembrane transport (GO:0070834) |
| • integral component of membrane (GO:0016021) | • plasma membrane (GO:0005886) |
| • cadmium ion binding (GO:0046870) |
Pathways
• Zinc homeostasis (Reactome: R-HSA-435354)
• Metal ion SLC transporters (KEGG: hsa04976)
Protein Summary
ZIP2 (UniProt Q9NP94) is a 309-amino acid transmembrane protein with eight predicted transmembrane domains. It functions as a homodimer to import zinc into cells. The protein is localized to the plasma membrane and early endosomes, and its expression is regulated by zinc availability. ZIP2 is essential for maintaining intracellular zinc levels, particularly in epithelial tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC39A2 Knockout HEK293 Cell Line | EDJ-KQ9120 | Human | 29986 | Details Get a Quote |
| SLC39A2 Knockout HeLa Cell Line | EDJ-KQ56137 | Human | 29986 | Details Get a Quote |
| SLC39A2 Knockout A-549 Cell Line | EDJ-KQ64624 | Human | 29986 | Details Get a Quote |
| SLC39A2 Knockout HCT 116 Cell Line | EDJ-KQ73076 | Human | 29986 | Details Get a Quote |
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