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

    Gene ID: 22921, updated on 27-Nov-2024

    Summary

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    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. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    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

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    See MSRB2 in Genome Data Viewer
    Location:
    10p12.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (23095579..23122013)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (23114573..23140973)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (23384508..23410942)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376451 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:23164275-23164885 Neighboring gene armadillo repeat containing 3 Neighboring gene uncharacterized LOC107984215 Neighboring gene RNA, 5S ribosomal pseudogene 304 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:23341078-23341578 Neighboring gene NANOG hESC enhancer GRCh37_chr10:23344706-23345245 Neighboring gene Sharpr-MPRA regulatory region 11378 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3149 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2216 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3150 Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta pseudogene 3 Neighboring gene uncharacterized LOC124900299

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Identification, expression and chromosome localization of a human gene encoding a novel protein with similarity to the pilB family of transcriptional factors (pilin) and to bacterial peptide methionine sulfoxide reductases. Huang W, et al. Gene, 1999 Jun 11. PMID 10375640
    2. Activity, tissue distribution and site-directed mutagenesis of a human peptide methionine sulfoxide reductase of type B: hCBS1. Jung S, et al. FEBS Lett, 2002 Sep 11. PMID 12220640
    3. A second human methionine sulfoxide reductase (hMSRB2) reducing methionine-R-sulfoxide displays a tissue expression pattern distinct from hMSRB1. Hansel A, et al. Redox Rep, 2003. PMID 14980072
    4. Overexpression of mitochondrial methionine sulfoxide reductase B2 protects leukemia cells from oxidative stress-induced cell death and protein damage. Cabreiro F, et al. J Biol Chem, 2008 Jun 13. PMID 18424444
    5. MSRB2 Ameliorates H(2)O(2)-induced Chondrocyte Oxidative Stress and Suppresses Apoptosis in Osteoarthritis. Huang K, et al. Immunol Invest, 2024 Jul. PMID 38638027

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MSRB2 Ameliorates H2O2-induced Chondrocyte Oxidative Stress and Suppresses Apoptosis in Osteoarthritis.
      Title: MSRB2 Ameliorates H(2)O(2)-induced Chondrocyte Oxidative Stress and Suppresses Apoptosis in Osteoarthritis.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC26104

    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 HTP PubMed 
    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
    XP_011517728.1
    XP_054221207.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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)

    1. 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_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      23095579..23122013
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      23114573..23140973
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365232.1 → XP_054221207.1  methionine-R-sulfoxide reductase B2, mitochondrial isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y3D2.2 GenPept UniProtKB/Swiss-Prot:Q9Y3D2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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