MRS2 Magnesium Transporter
Mitochondrial RNA Splicing 2; Key Regulator of Mitochondrial Magnesium Homeostasis
Gene Information Card
| Symbol | MRS2 |
|---|---|
| Full Name | mitochondrial RNA splicing 2 |
| Gene Type | protein coding |
| Chromosomal Location | 6p22.3 |
| NCBI Gene ID | 57380 ncbi.nlm.nih.gov/gene/57380 |
| Ensembl ID | ENSG00000124523 |
| UniProt ID | Q9HD23 |
| OMIM ID | 602074 |
| HGNC ID | 14485 |
| Aliases | HSPC142, MRS2L, MGT, SLC41A3 |
Description
MRS2 encodes a mitochondrial inner membrane protein that functions as a magnesium transporter. It is essential for mitochondrial magnesium homeostasis, RNA splicing, and oxidative phosphorylation. The protein forms a homooligomeric complex that mediates Mg2+ influx into the mitochondrial matrix.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial disease (general) | Impaired Mg2+ transport leads to mitochondrial dysfunction | ClinVar |
| Cardiomyopathy | Altered mitochondrial magnesium homeostasis affects cardiac energy metabolism | OMIM |
| Neurodegenerative disorders | Mitochondrial Mg2+ deficiency linked to neuronal cell death | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Liver | 8.3 | Low |
| Brain | 6.7 | Low |
| Kidney | 10.1 | Medium |
| Skeletal Muscle | 9.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 11.8 | Moderate expression |
| HepG2 | 9.5 | Low expression |
| SH-SY5Y | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112C>T | Missense | Rare | Reduced Mg2+ transport activity |
| c.245G>A | Nonsense | Rare | Premature truncation, loss of function |
| c.389A>G | Missense | Rare | Altered protein stability |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations impair Mg2+ transport, leading to mitochondrial magnesium deficiency.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Mitochondrial magnesium transport
• Oxidative phosphorylation
Protein Summary
MRS2 is a 443-amino acid protein with two transmembrane domains, localized to the mitochondrial inner membrane. It forms a homooligomeric channel that selectively transports Mg2+ into the mitochondrial matrix, critical for ATP synthesis and RNA metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MRS2 Knockout HEK293 Cell Line | EDJ-KQ14309 | Human | 57380 | Details Get a Quote |
| MRS2 Knockout HeLa Cell Line | EDJ-KQ43161 | Human | 57380 | Details Get a Quote |
| MRS2 Knockout A-549 Cell Line | EDJ-KQ44393 | Human | 57380 | Details Get a Quote |
| MRS2 Knockout HCT 116 Cell Line | EDJ-KQ44394 | Human | 57380 | Details Get a Quote |
