MSRB3: Methionine Sulfoxide Reductase B3
A key enzyme in oxidative stress response and protein repair, linked to hearing loss and cancer.
Gene Information Card
| Symbol | MSRB3 |
|---|---|
| Full Name | Methionine Sulfoxide Reductase B3 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q14.3 |
| NCBI Gene ID | 253827 ncbi.nlm.nih.gov/gene/253827 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q8IYD1 |
| OMIM ID | 613908 |
| HGNC ID | 25175 |
| Aliases | FLJ13448, HSPC270, MsrB3, CGI-131 |
Description
MSRB3 encodes methionine sulfoxide reductase B3, an enzyme that reduces methionine sulfoxide to methionine, repairing oxidative damage to proteins. It is localized in the endoplasmic reticulum and mitochondria, playing a critical role in protecting cells from oxidative stress. Mutations in MSRB3 are associated with autosomal recessive nonsyndromic hearing loss (DFNB74) and have been implicated in cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive nonsyndromic hearing loss (DFNB74) | Loss-of-function mutations impair protein repair in inner ear cells, leading to sensorineural deafness. | ClinVar, OMIM |
| Breast cancer | Altered MSRB3 expression may affect oxidative stress response and tumor growth. | COSMIC, NCBI |
| Colorectal cancer | MSRB3 mutations and expression changes linked to tumorigenesis. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Heart | 12.8 | Medium |
| Liver | 8.5 | Low |
| Kidney | 10.1 | Medium |
| Lung | 9.3 | Low |
| Testis | 18.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.5 | Embryonic kidney |
| HeLa | 11.2 | Cervical cancer |
| MCF7 | 9.8 | Breast cancer |
| HepG2 | 7.3 | Liver cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.556C>T (p.Arg186Trp) | Missense | Rare | Impaired reductase activity, associated with hearing loss |
| c.649G>A (p.Gly217Ser) | Missense | Rare | Reduced enzyme stability, linked to deafness |
Mutation functional classification
Loss of Function (LOF)
Most MSRB3 mutations in hearing loss are loss-of-function, reducing protein repair capacity in cochlear cells.
Gain of Function (GOF)
Not reported for MSRB3.
Dominant Negative (DN)
Not reported for MSRB3.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Protein repair (Reactome: R-HSA-5688426)
• Oxidative stress response (KEGG: map04213)
Protein Summary
MSRB3 is a 25.5 kDa protein containing a zinc-binding domain and a catalytic cysteine residue. It specifically reduces R-stereoisomers of methionine sulfoxide in proteins, utilizing thioredoxin as a cofactor. The enzyme is essential for maintaining cellular redox balance and protecting against oxidative damage, particularly in sensory hair cells of the inner ear.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MSRB3 Knockout HEK293 Cell Line | EDJ-KQ11746 | Human | 253827 | Details Get a Quote |
| MSRB3 Knockout A-549 Cell Line | EDJ-KQ40119 | Human | 253827 | Details Get a Quote |
| MSRB3 Knockout HCT 116 Cell Line | EDJ-KQ40120 | Human | 253827 | Details Get a Quote |
| MSRB3 Knockout HeLa Cell Line | EDJ-KQ40121 | Human | 253827 | Details Get a Quote |
