MSRB2: Methionine Sulfoxide Reductase B2
A key enzyme in oxidative stress defense and protein repair, encoded by the MSRB2 gene.
Gene Information Card
| Symbol | MSRB2 |
|---|---|
| Full Name | Methionine Sulfoxide Reductase B2 |
| Gene Type | Protein coding |
| Chromosomal Location | 10p12.1 |
| NCBI Gene ID | 22921 ncbi.nlm.nih.gov/gene/22921 |
| Ensembl ID | ENSG00000148773 |
| UniProt ID | Q9Y3D2 |
| OMIM ID | 606264 |
| HGNC ID | 18176 |
| Aliases | CBS-1, CGI-131, MSRB, PILB, S-MSR |
Description
MSRB2 encodes methionine sulfoxide reductase B2, an enzyme that catalyzes the reduction of methionine sulfoxide to methionine, thereby repairing oxidative damage to proteins. It is localized in mitochondria and plays a critical role in cellular antioxidant defense and redox regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiovascular disease | Oxidative stress-induced protein damage; MSRB2 deficiency may impair mitochondrial function | PMID: 23444346 |
| Aging and neurodegeneration | Accumulation of oxidized proteins due to reduced MSRB2 activity | PMID: 19074864 |
| Cancer | Altered MSRB2 expression linked to tumor progression and resistance to oxidative stress | COSMIC: MSRB2 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Liver | 8.7 | Medium |
| Kidney | 15.1 | High |
| Brain | 6.2 | Low |
| Skeletal muscle | 9.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.0 | High expression |
| HeLa | 10.2 | Moderate expression |
| HepG2 | 11.5 | Moderate expression |
| SH-SY5Y | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.217C>T (p.Arg73Cys) | Missense | <0.01% | Reduced catalytic activity |
| c.344G>A (p.Arg115His) | Missense | <0.01% | Altered substrate binding |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg73Cys) reduce enzymatic activity, impairing methionine sulfoxide reduction.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • peptide-methionine (R)-S-oxide reductase activity | • oxidoreductase activity |
| • mitochondrion | • response to oxidative stress |
| • protein repair |
Pathways
• Methionine salvage pathway
• Cellular response to oxidative stress
Protein Summary
MSRB2 is a mitochondrial enzyme that stereospecifically reduces methionine-R-sulfoxide to methionine, protecting proteins from oxidative damage. It contains a conserved catalytic domain and is essential for maintaining redox homeostasis in cells with high metabolic activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MSRB2 Knockout HEK293 Cell Line | EDJ-KQ7746 | Human | 22921 | Details Get a Quote |
| MSRB2 Knockout A-549 Cell Line | EDJ-KQ33181 | Human | 22921 | Details Get a Quote |
| MSRB2 Knockout HeLa Cell Line | EDJ-KQ33183 | Human | 22921 | Details Get a Quote |
| MSRB2 Knockout HCT 116 Cell Line | EDJ-KQ31860 | Human | 22921 | Details Get a Quote |
