MAGT1 Gene: Magnesium Transporter 1 – Function, Disease Associations, and Clinical Significance
A comprehensive overview of the MAGT1 gene, its role in magnesium homeostasis, associated disorders, expression patterns, and mutation landscape.
Gene Information Card
| Symbol | MAGT1 |
|---|---|
| Full Name | Magnesium Transporter 1 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq21.1 |
| NCBI Gene ID | 84061 ncbi.nlm.nih.gov/gene/84061 |
| Ensembl ID | ENSG00000102158 |
| UniProt ID | Q9H0U3 |
| OMIM ID | 300715 |
| HGNC ID | HGNC:28881 |
| Aliases | IAG2, MagT1, PRO0454, XMEN |
Description
The MAGT1 gene encodes the magnesium transporter 1 protein, a key regulator of intracellular magnesium (Mg2+) homeostasis. It is located on the X chromosome and is ubiquitously expressed. MAGT1 is involved in multiple cellular processes including T-cell activation, NK cell function, and protein N-glycosylation. Mutations in MAGT1 cause X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (XMEN) syndrome, characterized by chronic EBV infection, CD4+ T-cell lymphopenia, and increased susceptibility to lymphoma. Additionally, MAGT1 is part of the oligosaccharyltransferase (OST) complex, playing a role in protein glycosylation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (XMEN) | Loss-of-function mutations in MAGT1 impair Mg2+ influx, leading to defective T-cell receptor signaling and impaired NK cell cytotoxicity, causing immunodeficiency and EBV susceptibility. | ClinVar, OMIM (300715), PMID: 21884991 |
| Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia (XMEN) | MAGT1 mutations disrupt N-glycosylation of immune receptors, contributing to immune dysregulation. | UniProt, OMIM |
| Intellectual disability (in some cases) | MAGT1 mutations may affect neuronal magnesium homeostasis, though the mechanism is less defined. | ClinVar (rare variants) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Thymus | 9.2 | Medium |
| Bone marrow | 8.1 | Low |
| Liver | 6.3 | Low |
| Brain | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (lymphoblast) | 15.2 | High expression |
| HeLa (cervical) | 12.0 | Moderate |
| A549 (lung) | 8.5 | Low |
| HepG2 (liver) | 7.1 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.103C>T (p.Arg35Ter) | Nonsense | Rare | Loss of function – premature truncation, causing XMEN |
| c.248+1G>A | Splice site | Rare | Loss of function – aberrant splicing, leading to protein truncation |
| c.512delA (p.Asn171ThrfsTer5) | Frameshift | Rare | Loss of function – frameshift, causing XMEN |
| c.749G>A (p.Arg250His) | Missense | Very rare | Uncertain – may affect Mg2+ transport |
Mutation functional classification
Loss of Function (LOF)
Most MAGT1 mutations are loss-of-function, leading to reduced or absent protein expression, impaired Mg2+ uptake, and defective immune function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for MAGT1.
Dominant Negative (DN)
No dominant-negative effects are documented; MAGT1 is X-linked, and hemizygous males are primarily affected.
View complete mutation data：
Gene Ontology (GO)
| • Magnesium ion transmembrane transporter activity | • Magnesium ion transport |
| • Integral component of membrane | • Oligosaccharyltransferase complex |
| • Protein N-linked glycosylation | • Cellular response to magnesium ion |
Pathways
• Magnesium transport
• N-glycosylation (oligosaccharyltransferase complex)
• T-cell receptor signaling (indirect via Mg2+)
Protein Summary
The MAGT1 protein is a 367-amino acid transmembrane protein with multiple membrane-spanning domains. It functions as a selective magnesium transporter, essential for maintaining intracellular Mg2+ levels. It is also a component of the oligosaccharyltransferase (OST) complex, where it participates in N-glycosylation of proteins. The protein is widely expressed, with higher levels in immune tissues. Defects in MAGT1 lead to XMEN syndrome, characterized by chronic EBV infection, CD4+ lymphopenia, and lymphoma risk.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAGT1 Knockout HEK293 Cell Line | EDJ-KQ9959 | Human | 84061 | Details Get a Quote |
| MAGT1 Knockout HCT 116 Cell Line | EDJ-KQ35684 | Human | 84061 | Details Get a Quote |
| MAGT1 Knockout A-549 Cell Line | EDJ-KQ36878 | Human | 84061 | Details Get a Quote |
| MAGT1 Knockout HeLa Cell Line | EDJ-KQ36880 | Human | 84061 | Details Get a Quote |
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