SLC41A3
Solute Carrier Family 41 Member A3
Gene Information Card
| Symbol | SLC41A3 |
|---|---|
| Full Name | Solute Carrier Family 41 Member A3 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q21.3 |
| NCBI Gene ID | 54946 ncbi.nlm.nih.gov/gene/54946 |
| Ensembl ID | ENSG00000114544 |
| UniProt ID | Q96G46 |
| OMIM ID | 610802 |
| HGNC ID | 30965 |
| Aliases | MAGNESIUM TRANSPORTER 3, MGT-E, SLC41A3 |
Description
SLC41A3 encodes a member of the solute carrier family 41, which functions as a magnesium transporter. The protein is involved in cellular magnesium homeostasis and may play a role in magnesium reabsorption in the kidney. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypomagnesemia | Impaired magnesium transport due to SLC41A3 mutations | PMID: 21763490 |
| Nephrolithiasis | Altered magnesium handling in renal tubules | PMID: 21763490 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Liver | 8.3 | Medium |
| Heart | 6.1 | Medium |
| Brain | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression |
| HepG2 | 9.8 | Medium expression |
| SH-SY5Y | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112C>T (p.Arg38Trp) | Missense | <0.01% | Reduced magnesium transport activity |
| c.454G>A (p.Gly152Ser) | Missense | <0.01% | Impaired protein stability |
Mutation functional classification
Loss of Function (LOF)
Missense variants reduce magnesium transport activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • magnesium ion transmembrane transporter activity (GO:0015095) | • magnesium ion transport (GO:0015693) |
| • integral component of membrane (GO:0016021) |
Pathways
• Magnesium transport pathway
Protein Summary
SLC41A3 is a 573-amino acid transmembrane protein with 10 predicted transmembrane domains. It functions as a magnesium efflux transporter, localizing to the plasma membrane and intracellular vesicles. The protein is essential for maintaining cellular magnesium balance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC41A3 Knockout HEK293 Cell Line | EDJ-KQ14556 | Human | 54946 | Details Get a Quote |
| SLC41A3 Knockout A-549 Cell Line | EDJ-KQ46068 | Human | 54946 | Details Get a Quote |
| SLC41A3 Knockout HCT 116 Cell Line | EDJ-KQ46070 | Human | 54946 | Details Get a Quote |
| SLC41A3 Knockout HeLa Cell Line | EDJ-KQ46071 | Human | 54946 | Details Get a Quote |
