MSRB2 methionine sulfoxide reductase B2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MSRB2provided by HGNC
Official Full Name: methionine sulfoxide reductase B2provided by HGNC
Primary source: HGNC:HGNC:17061
See related: Ensembl:ENSG00000148450 MIM:613782; AllianceGenome:HGNC:17061
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CBS1; MSRB; PILB; CBS-1; CGI-131
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. Predicted to be located in mitochondrion. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in heart (RPKM 17.2), liver (RPKM 8.9) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10p12.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (23095579..23122013)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (23114573..23140973)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (23384508..23410942)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Release of the enzyme MsrB2 from damaged mitochondria, initiating autophagosome formation, represents a novel regulatory mechanism for oxidative stress-induced mitophagy.
Title: Mitochondrial MsrB2 serves as a switch and transducer for mitophagy.
the role for mitochondrial MSRB2 in Alzheimer's disease pathology is indispensible.
Title: Mitochondrial methionine sulfoxide reductase B2 links oxidative stress to Alzheimer's disease-like pathology.
this study we have identified, for the first time, compounds structurally related to the natural products fusaricidins that markedly activate recombinant bovine and human MsrA and human MsrB.
Title: Identification of activators of methionine sulfoxide reductases A and B.
Silencing the expression of the main Msr elements-MsrA, MsrB1, or MsrB2 exacerbates sensitivity toward oxidative stress.
Title: Proteome alteration in oxidative stress-sensitive methionine sulfoxide reductase-silenced HEK293 cells.
the mitochondrial methionine-R-sulfoxide reductase B2 (MSRB2) is a specific interaction partner of LG72.
Title: Identification of the mitochondrial MSRB2 as a binding partner of LG72.
Data show that glutaredoxin acts as a reductant for methionine sulfoxide reductases A and B (MsrA and MsrB) with or without resolving cysteine.
Title: Glutaredoxin serves as a reductant for methionine sulfoxide reductases with or without resolving cysteine.
MSR enzymes are differentially expressed in human skin.
Title: Differential expression of the antioxidant repair enzyme methionine sulfoxide reductase (MSRA and MSRB) in human skin.
almost absent catalase and methionine sulfoxide reductase A and B protein expression in human gray/white scalp hair shafts in association with a functional loss of methionine sulfoxide repair in the entire gray hair follicle
Title: Senile hair graying: H2O2-mediated oxidative stress affects human hair color by blunting methionine sulfoxide repair.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
upon oxidative stress, the overexpression of methionine sulfoxide reductase B2 leads to the preservation of mitochondrial integrity by decreasing the intracellular reactive oxygen species build-up through its scavenging role
Title: Overexpression of mitochondrial methionine sulfoxide reductase B2 protects leukemia cells from oxidative stress-induced cell death and protein damage.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

1434 (e-PCR)
- UniSTS:69670

MSRB_9285 (e-PCR)
- UniSTS:468529

SHGC-154269 (e-PCR)
- UniSTS:178049

D10S1660 (e-PCR)
- UniSTS:56708

SHGC-79054 (e-PCR)
- UniSTS:95878

NoName (e-PCR)
- UniSTS:488095

RH44759 (e-PCR)
- UniSTS:30414

STS-N36938 (e-PCR)
- UniSTS:41685

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables L-methionine-(R)-S-oxide reductase activity	IEA Inferred from Electronic Annotation more info
enables actin binding	ISS Inferred from Sequence or Structural Similarity more info
enables peptide-methionine (R)-S-oxide reductase activity	IBA Inferred from Biological aspect of Ancestor more info
enables peptide-methionine (R)-S-oxide reductase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables peptide-methionine (R)-S-oxide reductase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Process	Evidence Code	Pubs
involved_in actin filament polymerization	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein repair	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in protein repair	TAS Traceable Author Statement more info
involved_in response to oxidative stress	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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Preferred Names: methionine-R-sulfoxide reductase B2, mitochondrial

Names: pilin-like transcription factor

NP_036360.3

EC 1.8.4.12

EC 1.8.4.14

XP_011517728.1

EC 1.8.4.12

EC 1.8.4.14

XP_054221207.1

EC 1.8.4.12

EC 1.8.4.14

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_012228.4 → NP_036360.3 methionine-R-sulfoxide reductase B2, mitochondrial precursor

See identical proteins and their annotated locations for NP_036360.3

Status: VALIDATED

Source sequence(s)

AF151889, AL139281, BC117471

Consensus CDS

CCDS41495.1

UniProtKB/Swiss-Prot

Q17R44, Q4G1C7, Q9Y3D2, Q9Y5W6

Related

ENSP00000365693.3, ENST00000376510.8

Conserved Domains (1) summary

pfam01641
Location:53 → 179

SelR; SelR domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

23095579..23122013

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011519426.3 → XP_011517728.1 methionine-R-sulfoxide reductase B2, mitochondrial isoform X1

UniProtKB/TrEMBL

A6NCQ5

Conserved Domains (1) summary

cl15841
Location:51 → 100

SelR; SelR domain