MSRB2

methionine sulfoxide reductase B2

Basic information

Region (hg38): 10:23095578-23122013

Previous symbols: [ "MSRB" ]

Links

ENSG00000148450 ∙ NCBI:22921 ∙ OMIM:613782 ∙ HGNC:17061 ∙ Uniprot:Q9Y3D2 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MSRB2 gene.

• Inborn genetic diseases (14 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MSRB2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			14			14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	0	0

Variants in MSRB2

This is a list of pathogenic ClinVar variants found in the MSRB2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
10-23095615-C-T		not specified	Uncertain significance (Nov 22, 2023)
10-23095622-T-G		not specified	Uncertain significance (May 06, 2022)
10-23095652-C-T		not specified	Uncertain significance (Apr 08, 2022)
10-23095663-C-T		not specified	Uncertain significance (Mar 16, 2022)
10-23095669-G-A		not specified	Uncertain significance (Mar 23, 2023)
10-23095682-C-A		not specified	Uncertain significance (May 15, 2023)
10-23095700-G-C		not specified	Uncertain significance (Jun 18, 2021)
10-23095702-A-C		not specified	Uncertain significance (Oct 20, 2021)
10-23095721-A-G		not specified	Uncertain significance (Oct 21, 2021)
10-23104176-A-G		not specified	Uncertain significance (Dec 06, 2022)
10-23104218-G-A		not specified	Uncertain significance (Mar 09, 2022)
10-23104221-A-G		not specified	Uncertain significance (Jun 18, 2021)
10-23110265-T-A		not specified	Uncertain significance (Dec 07, 2021)
10-23110293-G-A		not specified	Uncertain significance (Feb 27, 2024)
10-23110314-T-C		not specified	Uncertain significance (Nov 06, 2023)
10-23119428-C-T		not specified	Uncertain significance (Dec 17, 2023)
10-23119429-G-A		not specified	Uncertain significance (Feb 16, 2023)
10-23120785-C-T		not specified	Uncertain significance (Jan 26, 2022)
10-23120839-A-G		not specified	Uncertain significance (Mar 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MSRB2	protein_coding	protein_coding	ENST00000376510	5	26508

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000554	0.466	124753	1	37	124791	0.000152

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.635	75	92.2	0.814	0.00000526	1149
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000559	0.000559
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000557	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.0000535	0.0000530
Middle Eastern	0.0000557	0.0000556
South Asian	0.000459	0.000458
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• 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}.
• Pathway: S-Adenosylhomocysteine (SAH) Hydrolase Deficiency;Methionine Metabolism;Methionine Adenosyltransferase Deficiency;Glycine N-methyltransferase Deficiency;Hypermethioninemia;Methylenetetrahydrofolate Reductase Deficiency (MTHFRD);Homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cblG complementation type;Cystathionine Beta-Synthase Deficiency;Sulindac Metabolic Pathway;Methionine De Novo and Salvage Pathway;Metabolism of proteins;Protein repair (Consensus)

Recessive Scores

• pRec: 0.167

Intolerance Scores

• loftool: 0.541
• rvis_EVS: 0.66
• rvis_percentile_EVS: 84.35

Haploinsufficiency Scores

• pHI: 0.188
• hipred: N
• hipred_score: 0.284
• ghis: 0.400

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0242

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Msrb2

Gene ontology

• Biological process: actin filament polymerization;protein repair;cellular response to oxidative stress;oxidation-reduction process
• Cellular component: mitochondrion;cytosol
• Molecular function: actin binding;zinc ion binding;peptide-methionine (R)-S-oxide reductase activity;L-methionine-(R)-S-oxide reductase activity