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Aliases for MSRB3 Gene

Aliases for MSRB3 Gene

  • Methionine Sulfoxide Reductase B3 2 3
  • DFNB74 3 6
  • Methionine-R-Sulfoxide Reductase B3, Mitochondrial 3
  • Methionine-R-Sulfoxide Reductase B3 3
  • Deafness, Autosomal Recessive 74 2
  • EC 1.8.4.12 63
  • EC 1.8.4.- 4
  • 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 lipoma of colon. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MSRB3 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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; Note=Binds 1 zinc ion per subunit.;
    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 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 :
  • Q8IXL7
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:0008270 zinc ion binding IDA 14699060
GO:0033743 peptide-methionine (R)-S-oxide reductase activity IDA 14699060
genes like me logo Genes that share ontologies with MSRB3: view

Animal Model Products

miRNA for MSRB3 Gene

miRTarBase miRNAs that target MSRB3

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MSRB3

In Situ Assay Products

Flow Cytometry Products

No data available for Phenotypes , Animal Models , Transcription Factor Targeting 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
endoplasmic reticulum 5
mitochondrion 5
extracellular 3
chloroplast 1
cytosol 1

Gene Ontology (GO) - Cellular Components for MSRB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 14699060
GO:0005783 endoplasmic reticulum IDA 14699060
genes like me logo Genes that share ontologies with MSRB3: view

Pathways for MSRB3 Gene

SuperPathways for MSRB3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MSRB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006979 response to oxidative stress IEA --
GO:0030091 protein repair IDA 14699060
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with MSRB3: view

No data available for Pathways by source for MSRB3 Gene

Compounds for MSRB3 Gene

(1) HMDB Compounds for MSRB3 Gene

Compound Synonyms Cas Number PubMed IDs
Methionine sulfoxide
  • DL-Methionine sulfoxide
62697-73-8
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MSRB3

Primer Products

Flow Cytometry Products

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 (5.5).

Protein differential expression in normal tissues 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 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 expressions with MSRB3: view

Expression partners for MSRB3 Gene

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
cow
(Bos Taurus)
Mammalia MSRB3 35
  • 92.21 (n)
  • 93.48 (a)
MSRB3 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MSRB3 35
  • 92.59 (n)
  • 96.3 (a)
MSRB3 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Msrb3 35
  • 87.61 (n)
  • 94.54 (a)
Msrb3 16
Msrb3 36
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MSRB3 35
  • 99.82 (n)
  • 100 (a)
MSRB3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Msrb3 35
  • 86.23 (n)
  • 93.48 (a)
oppossum
(Monodelphis domestica)
Mammalia MSRB3 36
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MSRB3 36
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves MSRB3 35
  • 84.06 (n)
  • 85.87 (a)
MSRB3 36
  • 74 (a)
OneToOne
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 35
  • 53.07 (n)
  • 51.97 (a)
SelR 36
  • 38 (a)
OneToOne
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

Selected 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 MAF
rs1036 -- 65,465,368(-) ACGTA(A/G/T)TTTTT utr-variant-3-prime
rs3553 -- 65,465,360(-) TTTAA(A/G)CTACA utr-variant-3-prime
rs989271 -- 65,447,348(-) TTCTC(C/T)TTATC intron-variant
rs997188 -- 65,436,102(+) CTTAA(A/C)CTGGG intron-variant
rs997718 -- 65,336,410(-) GTATC(A/T)ATTGC 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

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

(1) OMIM Diseases for MSRB3 Gene (613719)

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.

(1) University of Copenhagen DISEASES for MSRB3 Gene

Relevant External Links for MSRB3

Genetic Association Database (GAD)
MSRB3
Human Genome Epidemiology (HuGE) Navigator
MSRB3
genes like me logo Genes that share disorders with MSRB3: view

No data available for Novoseek inferred disease relationships and Genatlas for MSRB3 Gene

Publications for MSRB3 Gene

  1. Methionine sulfoxide reduction in mammals: characterization of methionine-R-sulfoxide reductases. (PMID: 14699060) Kim H.-Y. … Gladyshev V.N. (Mol. Biol. Cell 2004) 3 4 23
  2. 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
  3. Genome-wide association study reveals multiple loci associated with primary tooth development during infancy. (PMID: 20195514) Pillas D. … Jarvelin M.R. (PLoS Genet. 2010) 3 48
  4. A genome-wide association study for diabetic nephropathy genes in African Americans. (PMID: 21150874) McDonough C.W. … Bowden D.W. (Kidney Int. 2011) 3 48
  5. 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

Products for MSRB3 Gene

Sources for MSRB3 Gene

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