SLC30A2 (Zinc Transporter 2)
Solute Carrier Family 30 Member 2: Zinc Homeostasis and Transient Neonatal Zinc Deficiency
Gene Information Card
| Symbol | SLC30A2 |
|---|---|
| Full Name | Solute Carrier Family 30 Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p35.1 |
| NCBI Gene ID | 7780 ncbi.nlm.nih.gov/gene/7780 |
| Ensembl ID | ENSG00000116288 |
| UniProt ID | Q9BRI3 |
| OMIM ID | 609617 |
| HGNC ID | 11014 |
| Aliases | ZnT-2, ZNT2, HSD-2, TMC1 |
Description
SLC30A2 encodes zinc transporter 2 (ZnT2), a member of the solute carrier family 30 (SLC30) that mediates zinc efflux from the cytoplasm into intracellular vesicles and across the plasma membrane. ZnT2 is critical for zinc secretion into milk during lactation and for maintaining cellular zinc homeostasis. Mutations in SLC30A2 cause transient neonatal zinc deficiency (TNZD) due to low zinc levels in breast milk.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Transient Neonatal Zinc Deficiency (TNZD) | Loss-of-function mutations in SLC30A2 impair zinc transport into mammary epithelial cells, reducing zinc secretion into breast milk and causing zinc deficiency in breastfed infants. | OMIM #609617; ClinVar; PMID: 16984976 |
| Zinc Deficiency (general) | Impaired ZnT2 function disrupts cellular zinc homeostasis, contributing to systemic zinc deficiency. | UniProt; PMID: 16984976 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Mammary gland | 12.5 | High |
| Prostate | 8.2 | Medium |
| Kidney | 6.1 | Medium |
| Small intestine | 4.3 | Low |
| Pancreas | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF-7 (breast cancer) | 15.2 | High expression |
| HEK293 (embryonic kidney) | 8.7 | Moderate expression |
| HepG2 (liver cancer) | 5.4 | Low expression |
| Caco-2 (colorectal) | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.105C>A (p.Cys35Ter) | Nonsense | Rare | Loss of function; truncation of ZnT2 protein |
| c.266T>C (p.Leu89Pro) | Missense | Rare | Impaired zinc transport activity |
| c.340G>A (p.Gly114Arg) | Missense | Rare | Reduced zinc efflux; associated with TNZD |
| c.545T>C (p.Leu182Pro) | Missense | Rare | Dominant-negative effect on zinc secretion |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations (e.g., p.Cys35Ter, p.Leu89Pro) that reduce or abolish ZnT2-mediated zinc transport, leading to decreased zinc secretion into milk.
Gain of Function (GOF)
Not reported for SLC30A2.
Dominant Negative (DN)
Missense mutation p.Leu182Pro exerts a dominant-negative effect, impairing wild-type ZnT2 function and causing TNZD.
View complete mutation data：
Gene Ontology (GO)
| • zinc ion transmembrane transporter activity (GO:0005385) | • zinc ion export across plasma membrane (GO:0071577) |
| • integral component of membrane (GO:0016021) | • cellular zinc ion homeostasis (GO:0006882) |
| • hormone metabolic process (GO:0042445) |
Pathways
• Zinc homeostasis (Reactome: R-HSA-435354)
• Metal ion SLC transporters (KEGG: hsa04976)
Protein Summary
ZnT2 is a 359-amino acid transmembrane protein with six predicted transmembrane domains. It functions as a homodimer to export zinc from the cytoplasm into vesicles or extracellular space. In mammary epithelial cells, ZnT2 localizes to secretory vesicles and the plasma membrane, facilitating zinc enrichment in milk. The protein contains a conserved cation diffusion facilitator (CDF) domain and a histidine-rich loop involved in zinc binding.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC30A2 Knockout HEK293 Cell Line | EDJ-KQ6119 | Human | 7780 | Details Get a Quote |
| SLC30A2 Knockout HeLa Cell Line | EDJ-KQ54793 | Human | 7780 | Details Get a Quote |
| SLC30A2 Knockout A-549 Cell Line | EDJ-KQ63285 | Human | 7780 | Details Get a Quote |
| SLC30A2 Knockout HCT 116 Cell Line | EDJ-KQ71752 | Human | 7780 | Details Get a Quote |
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