SLC41A2: Solute Carrier Family 41 Member 2
A magnesium transporter gene involved in magnesium homeostasis and cellular signaling
Gene Information Card
| Symbol | SLC41A2 |
|---|---|
| Full Name | Solute Carrier Family 41 Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q23.3 |
| NCBI Gene ID | 84102 ncbi.nlm.nih.gov/gene/84102 |
| Ensembl ID | ENSG00000136052 |
| UniProt ID | Q96JW4 |
| OMIM ID | 610802 |
| HGNC ID | 30946 |
| Aliases | MgtE, FLJ20473 |
Description
SLC41A2 encodes a member of the solute carrier family 41, which functions as a magnesium transporter. The protein is involved in cellular magnesium uptake and homeostasis, playing a role in magnesium-dependent enzymatic reactions and signaling pathways. It is broadly expressed in human tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypomagnesemia | Impaired magnesium transport due to SLC41A2 dysfunction may contribute to magnesium deficiency | Limited evidence; inferred from functional studies |
| Cardiovascular disease | Altered magnesium homeostasis linked to hypertension and arrhythmias | Association studies |
| Type 2 diabetes | Magnesium dysregulation may affect insulin sensitivity | Epidemiological association |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Heart | 9.8 | Medium |
| Brain | 7.2 | Low |
| Liver | 6.1 | Low |
| Skeletal muscle | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression |
| HeLa | 10.1 | Medium expression |
| K562 | 8.7 | Medium expression |
| A549 | 6.4 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | Missense | <0.01% | Unknown functional effect |
| c.457G>A (p.Val153Ile) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; potential reduction in magnesium transport
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) | • Plasma membrane (GO:0005886) |
| • Magnesium ion transport (GO:0015693) | • Cellular magnesium ion homeostasis (GO:0032026) |
Pathways
• Magnesium transport pathway
• Ion homeostasis
Protein Summary
SLC41A2 is a 573-amino acid protein with multiple transmembrane domains, predicted to function as a magnesium transporter. It shares homology with bacterial MgtE transporters. The protein localizes to the plasma membrane and facilitates magnesium influx, contributing to intracellular magnesium balance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC41A2 Knockout HEK293 Cell Line | EDJ-KQ9981 | Human | 84102 | Details Get a Quote |
| SLC41A2 Knockout A-549 Cell Line | EDJ-KQ36925 | Human | 84102 | Details Get a Quote |
| SLC41A2 Knockout HCT 116 Cell Line | EDJ-KQ36926 | Human | 84102 | Details Get a Quote |
| SLC41A2 Knockout HeLa Cell Line | EDJ-KQ35721 | Human | 84102 | Details Get a Quote |