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Aliases for MSRB3 Gene

Aliases for MSRB3 Gene

  • Methionine Sulfoxide Reductase B3 2 3 5
  • Methionine-R-Sulfoxide Reductase B3, Mitochondrial 3
  • Deafness, Autosomal Recessive 74 2
  • EC 1.8.4.12 63
  • EC 1.8.4.- 4
  • DFNB74 3
  • MsrB3 4

External Ids for MSRB3 Gene

Previous HGNC Symbols for MSRB3 Gene

  • DFNB74

Previous GeneCards Identifiers for MSRB3 Gene

  • GC12P063961
  • GC12P065672
  • GC12P062724

Summaries for MSRB3 Gene

Entrez Gene Summary for MSRB3 Gene

  • The protein encoded by this gene catalyzes the reduction of methionine sulfoxide to methionine. This enzyme acts as a monomer and requires zinc as a cofactor. Several transcript variants encoding two different isoforms have been found for this gene. One of the isoforms localizes to mitochondria while the other localizes to endoplasmic reticula. [provided by RefSeq, Jul 2010]

GeneCards Summary for MSRB3 Gene

MSRB3 (Methionine Sulfoxide Reductase B3) is a Protein Coding gene. Diseases associated with MSRB3 include deafness, autosomal recessive 74 and autosomal recessive non-syndromic sensorineural deafness type dfnb. Among its related pathways are Transport to the Golgi and subsequent modification and Protein repair. GO annotations related to this gene include peptide-methionine (R)-S-oxide reductase activity. An important paralog of this gene is MSRB2.

UniProtKB/Swiss-Prot for MSRB3 Gene

  • Catalyzes the reduction of free and protein-bound methionine sulfoxide to methionine. Isoform 2 is essential for hearing.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MSRB3 Gene

Genomics for MSRB3 Gene

Regulatory Elements for MSRB3 Gene

Promoters for MSRB3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MSRB3 on UCSC Golden Path with GeneCards custom track

Genomic Location for MSRB3 Gene

Chromosome:
12
Start:
65,278,643 bp from pter
End:
65,488,244 bp from pter
Size:
209,602 bases
Orientation:
Plus strand

Genomic View for MSRB3 Gene

Genes around MSRB3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MSRB3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MSRB3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MSRB3 Gene

Proteins for MSRB3 Gene

  • Protein details for MSRB3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IXL7-MSRB3_HUMAN
    Recommended name:
    Methionine-R-sulfoxide reductase B3
    Protein Accession:
    Q8IXL7
    Secondary Accessions:
    • B4DR19
    • B7ZAQ0
    • Q6UXS2

    Protein attributes for MSRB3 Gene

    Size:
    192 amino acids
    Molecular mass:
    20702 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Monomer.

    Alternative splice isoforms for MSRB3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MSRB3 Gene

Proteomics data for MSRB3 Gene at MOPED

Selected DME Specific Peptides for MSRB3 Gene

Post-translational modifications for MSRB3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for MSRB3

Domains & Families for MSRB3 Gene

Protein Domains for MSRB3 Gene

Suggested Antigen Peptide Sequences for MSRB3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IXL7

UniProtKB/Swiss-Prot:

MSRB3_HUMAN :
  • Contains 1 MsrB (methionine-R-sulfoxide reductase) domain.
  • Belongs to the MsrB Met sulfoxide reductase family.
Domain:
  • Contains 1 MsrB (methionine-R-sulfoxide reductase) domain.
Family:
  • Belongs to the MsrB Met sulfoxide reductase family.
genes like me logo Genes that share domains with MSRB3: view

No data available for Gene Families for MSRB3 Gene

Function for MSRB3 Gene

Molecular function for MSRB3 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
L-methionine + oxidized thioredoxin = L-methionine R-oxide + reduced thioredoxin.
UniProtKB/Swiss-Prot Function:
Catalyzes the reduction of free and protein-bound methionine sulfoxide to methionine. Isoform 2 is essential for hearing.

Enzyme Numbers (IUBMB) for MSRB3 Gene

Gene Ontology (GO) - Molecular Function for MSRB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0033743 peptide-methionine (R)-S-oxide reductase activity IEA,TAS --
genes like me logo Genes that share ontologies with MSRB3: view

Phenotypes for MSRB3 Gene

genes like me logo Genes that share phenotypes with MSRB3: view

Human Phenotype Ontology for MSRB3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MSRB3 Gene

MGI Knock Outs for MSRB3:

Animal Model Products

No data available for Transcription Factor Targets and HOMER Transcription for MSRB3 Gene

Localization for MSRB3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MSRB3 Gene

Isoform 1: Endoplasmic reticulum.
Isoform 2: Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MSRB3 Gene COMPARTMENTS Subcellular localization image for MSRB3 gene
Compartment Confidence
cytosol 5
endoplasmic reticulum 5
mitochondrion 5
extracellular 3

No data available for Gene Ontology (GO) - Cellular Components for MSRB3 Gene

Pathways & Interactions for MSRB3 Gene

genes like me logo Genes that share pathways with MSRB3: view

Pathways by source for MSRB3 Gene

2 Reactome pathways for MSRB3 Gene

Gene Ontology (GO) - Biological Process for MSRB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006979 response to oxidative stress IEA --
genes like me logo Genes that share ontologies with MSRB3: view

No data available for SIGNOR curated interactions for MSRB3 Gene

Drugs & Compounds for MSRB3 Gene

(2) Drugs for MSRB3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Methionine Approved Nutra 0
methionine sulfoxide Experimental Pharma 0
genes like me logo Genes that share compounds with MSRB3: view

Transcripts for MSRB3 Gene

Unigene Clusters for MSRB3 Gene

Methionine sulfoxide reductase B3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MSRB3 Gene

No ASD Table

Relevant External Links for MSRB3 Gene

GeneLoc Exon Structure for
MSRB3
ECgene alternative splicing isoforms for
MSRB3

Expression for MSRB3 Gene

mRNA expression in normal human tissues for MSRB3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MSRB3 Gene

This gene is overexpressed in Artery - Tibial (x5.5).

Protein differential expression in normal tissues from HIPED for MSRB3 Gene

This gene is overexpressed in Cardia (12.4), Seminal vesicle (6.2), and Bone marrow stromal cell (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MSRB3 Gene



SOURCE GeneReport for Unigene cluster for MSRB3 Gene Hs.339024

mRNA Expression by UniProt/SwissProt for MSRB3 Gene

Q8IXL7-MSRB3_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with MSRB3: view

Protein tissue co-expression partners for MSRB3 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for MSRB3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MSRB3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MSRB3 35
  • 99.82 (n)
  • 100 (a)
MSRB3 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MSRB3 36
  • 88 (a)
OneToOne
MSRB3 35
  • 92.21 (n)
  • 93.48 (a)
dog
(Canis familiaris)
Mammalia MSRB3 35
  • 92.59 (n)
  • 96.3 (a)
MSRB3 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Msrb3 16
Msrb3 36
  • 80 (a)
OneToOne
Msrb3 35
  • 87.61 (n)
  • 94.54 (a)
oppossum
(Monodelphis domestica)
Mammalia MSRB3 36
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MSRB3 36
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Msrb3 35
  • 86.23 (n)
  • 93.48 (a)
chicken
(Gallus gallus)
Aves MSRB3 36
  • 74 (a)
OneToOne
MSRB3 35
  • 84.06 (n)
  • 85.87 (a)
lizard
(Anolis carolinensis)
Reptilia MSRB3 36
  • 72 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii msrb3 35
  • 65.58 (n)
  • 69.02 (a)
wufc07g04 35
msrb3 36
  • 55 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta SelR 36
  • 38 (a)
OneToOne
SelR 35
  • 53.07 (n)
  • 51.97 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MXR2 36
  • 31 (a)
OneToMany
MXR2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons MSRB1 35
  • 55.3 (n)
  • 57.36 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 52 (a)
OneToOne
Species with no ortholog for MSRB3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MSRB3 Gene

ENSEMBL:
Gene Tree for MSRB3 (if available)
TreeFam:
Gene Tree for MSRB3 (if available)

Paralogs for MSRB3 Gene

Paralogs for MSRB3 Gene

(4) SIMAP similar genes for MSRB3 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with MSRB3: view

Variants for MSRB3 Gene

Sequence variations from dbSNP and Humsavar for MSRB3 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
VAR_064904 Deafness, autosomal recessive, 74 (DFNB74)
rs1047182 -- 65,465,805(+) CATCC(A/C/T)AGAAG utr-variant-3-prime
rs989271 -- 65,447,348(-) TTCTC(C/T)TTATC intron-variant
rs997718 -- 65,336,410(-) GTATC(A/T)ATTGC intron-variant
rs1438629 -- 65,287,448(-) CAAAC(A/C)CAATA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MSRB3 Gene

Variant ID Type Subtype PubMed ID
nsv832445 CNV Gain 17160897
nsv749 CNV Insertion 18451855
nsv899211 CNV Gain 21882294
nsv513363 CNV Insertion 21212237
esv1479608 CNV Insertion 17803354
nsv750 CNV Loss 18451855
nsv751 CNV Insertion 18451855

Variation tolerance for MSRB3 Gene

Residual Variation Intolerance Score: 35.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.02; 20.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MSRB3 Gene

HapMap Linkage Disequilibrium report
MSRB3
Human Gene Mutation Database (HGMD)
MSRB3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MSRB3 Gene

Disorders for MSRB3 Gene

MalaCards: The human disease database

(11) MalaCards diseases for MSRB3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 74
  • deafness, autosomal recessive, 74
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
dfnb74 nonsyndromic hearing loss and deafness
  • deafness, autosomal recessive 74
deafness, autosomal recessive 76
  • deafness, autosomal recessive, 76
deafness, autosomal recessive 93
  • deafness, autosomal recessive, 93
- elite association - COSMIC cancer census association via MalaCards
Search MSRB3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MSRB3_HUMAN
  • Deafness, autosomal recessive, 74 (DFNB74) [MIM:613718]: A form of non-syndromic sensorineural deafness characterized by prelingual, bilateral, profound hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:21185009}. Note=The disease is caused by mutations affecting the gene represented in this entry. A nonsense mutation affecting exclusively mitochondrial isoform 2 is sufficient to produce hearing loss.

Relevant External Links for MSRB3

Genetic Association Database (GAD)
MSRB3
Human Genome Epidemiology (HuGE) Navigator
MSRB3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MSRB3
genes like me logo Genes that share disorders with MSRB3: view

No data available for Genatlas for MSRB3 Gene

Publications for MSRB3 Gene

  1. Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74. (PMID: 21185009) Ahmed Z.M. … Riazuddin S. (Am. J. Hum. Genet. 2011) 2 3 4 67
  2. Differential expression of the antioxidant repair enzyme methionine sulfoxide reductase (MSRA and MSRB) in human skin. (PMID: 19542914) Taungjaruwinai W.M. … Thiele J.J. (Am J Dermatopathol 2009) 3 23
  3. Methionine sulfoxide reduction in mammals: characterization of methionine-R-sulfoxide reductases. (PMID: 14699060) Kim H.-Y. … Gladyshev V.N. (Mol. Biol. Cell 2004) 3 23
  4. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for MSRB3 Gene

Sources for MSRB3 Gene

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