MSRB2
protein-codingmethionine sulfoxide reductase B2
Gene summary
Predicted to enable actin binding activity; peptide-methionine (R)-S-oxide reductase activity; and zinc ion binding activity. Predicted to be involved in actin filament polymerization and protein repair. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]
- MSRB
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~26.4 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to MSRB2 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_012228.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 3 | 1 | 4 | |||
| missense | 36 | 5 | 41 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 3 | 3 | ||||
| Total | 0 | 0 | 42 | 6 | 0 | 48 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_036360.3 | 5 | MANE Select | |
| Ensembl | ENSP00000365693.3 | 5 | MANE Select | |
| Ensembl | ENSP00000434990.1 | 4 | Standard | |
| Ensembl | ENSP00000570242.1 | 5 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- S-Adenosylhomocysteine (SAH) Hydrolase Deficiency
- Methionine Metabolism
- Methionine Adenosyltransferase Deficiency
- Glycine N-methyltransferase Deficiency
- Hypermethioninemia
Biological Process
- actin filament polymerization
- protein repair
- cellular response to oxidative stress
- oxidation-reduction process
Molecular Function
- actin binding
- zinc ion binding
- peptide-methionine (R)-S-oxide reductase activity
- L-methionine-(R)-S-oxide reductase activity
Cellular Component
- mitochondrion
- cytosol
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000376510
- Coding exons
- 5
- Length
- 26508
- Individuals with no LoFs
- 124753
- Homozygous LoFs
- 1
- Heterozygous LoFs
- 37
- Defined
- 124791
- p
- 0.000152
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.635 | 75 | 92.2 | 0.814 | 0.00000526 | 1149 |
| Missense (PolyPhen) | 34 | 40.627 | 0.83688 | 469 | ||
| Synonymous | 0.967 | 31 | 38.6 | 0.802 | 0.00000253 | 378 |
| Loss of Function | 0.403 | 7 | 8.25 | 0.848 | 3.50e-7 | 107 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.000065 | 0.000065 | rare |
| Latino/Admixed American | 0.00049 | 0.00046 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.000056 | 0.000056 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000053 | 0.000053 | rare |
| South Asian | 0.00046 | 0.00046 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Methionine-sulfoxide reductase that specifically reduces methionine (R)-sulfoxide back to methionine. While in many cases, methionine oxidation is the result of random oxidation following oxidative stress, methionine oxidation is also a post- translational modification that takes place on specific residue. Upon oxidative stress, may play a role in the preservation of mitochondrial integrity by decreasing the intracellular reactive oxygen species build-up through its scavenging role, hence contributing to cell survival and protein maintenance. {ECO:0000269|PubMed:18424444}.;
Recessive Scores
- pRec
- 0.167
Intolerance Scores
- LoFtool
- 0.541
- RVIS EVS
- 0.66
- RVIS percentile EVS
- 84.35
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.0242
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |