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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
  • Methionine-R-Sulfoxide Reductase B3 3
  • Deafness, Autosomal Recessive 74 2
  • EC 1.8.4.12 61
  • 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 Dfnb74 Nonsyndromic Hearing Loss And Deafness. Among its related pathways are Metabolism of proteins 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 CIViC summary , 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

Enhancers for MSRB3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G064664 2 FANTOM5 Ensembl ENCODE dbSUPER 13.4 -603.3 -603338 21.8 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 RASSF3 MSRB3 LOC105369804 MIR548C ENSG00000223294 LOC100507065 LEMD3 GNS C12orf66 TBK1
GH12G065561 1.3 ENCODE dbSUPER 13.4 +283.7 283703 2.1 PKNOX1 FEZF1 ZNF2 ZNF766 GATA2 KLF7 FOS ZNF488 TSHZ1 ZNF662 MSRB3 LEMD3 LOC100507065 RBMS1P1 LINC02454 LOC105369808
GH12G065168 1.4 ENCODE dbSUPER 10.9 -108.7 -108713 2.8 HDGF PKNOX1 MLX CREB3L1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ENSG00000250280 LEMD3 MSRB3 TBK1 ENSG00000276853
GH12G066047 1.3 Ensembl ENCODE 10.1 +770.5 770507 4.0 FOXA2 ATF1 MLX ARID4B DMAP1 YY1 SLC30A9 CBX5 SP5 JUNB ENSG00000256083 LOC100129940 MSRB3 ENSG00000250280 RPSAP52 HMGA2 LLPH-AS1 RPL21P18 RNA5SP362
GH12G065305 1.1 Ensembl ENCODE 11 +28.9 28867 3.5 PKNOX1 ZSCAN4 SIN3A FEZF1 RAD21 ZNF366 FOS ZNF654 ZNF362 REST ENSG00000250280 MSRB3 HMGA2 RPSAP52 LEMD3 GC12P065325
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MSRB3 on UCSC Golden Path with GeneCards custom track

Promoters for MSRB3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000053261 557 2001 SIN3A GLI4 ZNF121 GLIS2 ELK1 ZNF143 KLF7 ZNF263 SP3 REST

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

Selected DME Specific Peptides for MSRB3 Gene

Q8IXL7:
  • FDDGPRPTGKRYC
  • CGAHLGH
  • GIYKCVVC
  • RYCINSA

Post-translational modifications for MSRB3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for MSRB3 Gene

Gene 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 :
  • Belongs to the MsrB Met sulfoxide reductase family.
Family:
  • Belongs to the MsrB Met sulfoxide reductase family.
genes like me logo Genes that share domains with MSRB3: view

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:0016491 oxidoreductase activity IEA --
GO:0016671 oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor IEA --
GO:0033743 peptide-methionine (R)-S-oxide reductase activity 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

CRISPR Products

Inhibitory RNA 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MSRB3 gene
Compartment Confidence
mitochondrion 5
endoplasmic reticulum 5
cytosol 5
extracellular 3

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
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MSRB3: view

Pathways & Interactions for MSRB3 Gene

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

Pathways by source for MSRB3 Gene

1 BioSystems pathway 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 --
GO:0030091 protein repair TAS --
GO:0055114 oxidation-reduction process 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:

CRISPR Products

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for MSRB3 Gene



Protein tissue co-expression partners for MSRB3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MSRB3 Gene:

MSRB3

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.

Evidence on tissue expression from TISSUES for MSRB3 Gene

  • Pancreas(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MSRB3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • middle ear
  • outer ear
  • skull
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with MSRB3: view

Primer 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 34 35
  • 99.82 (n)
dog
(Canis familiaris)
Mammalia MSRB3 34 35
  • 92.59 (n)
cow
(Bos Taurus)
Mammalia MSRB3 34 35
  • 92.21 (n)
mouse
(Mus musculus)
Mammalia Msrb3 34 16 35
  • 87.61 (n)
rat
(Rattus norvegicus)
Mammalia Msrb3 34
  • 86.23 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MSRB3 35
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MSRB3 35
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves MSRB3 34 35
  • 84.06 (n)
lizard
(Anolis carolinensis)
Reptilia MSRB3 35
  • 72 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii msrb3 34 35
  • 65.58 (n)
wufc07g04 34
fruit fly
(Drosophila melanogaster)
Insecta SelR 34 35
  • 53.07 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MXR2 35 37
  • 31 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons MSRB1 34
  • 55.3 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 52 (a)
OneToOne
Species where no ortholog for MSRB3 was found in the sources mined by GeneCards:
  • 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
rs387907088 Pathogenic, Deafness, autosomal recessive, 74 (DFNB74) [MIM:613718] 65,328,584(+) TTGTT(G/T)GTGGA reference, missense
rs149258390 Pathogenic 65,308,634(+) CCCTT(A/C/T)GAGCC intron-variant, reference, stop-gained
rs201306709 Likely pathogenic 65,368,997(+) TTGCA(A/G)GTCAG splice-acceptor-variant
rs114599476 Likely benign 65,326,863(+) GTCTT(C/T)TCCCA reference, synonymous-codon
rs144038296 Likely benign 65,463,294(+) CAGCC(C/T)GGCCC reference, missense

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

Variant ID Type Subtype PubMed ID
esv1479608 CNV insertion 17803354
nsv1144632 CNV deletion 24896259
nsv513363 CNV insertion 21212237
nsv749 CNV insertion 18451855
nsv750 CNV deletion 18451855
nsv751 CNV insertion 18451855
nsv832445 CNV gain 17160897
nsv973086 CNV duplication 23825009

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

Human Gene Mutation Database (HGMD)
MSRB3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MSRB3

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

Disorders for MSRB3 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
deafness, autosomal recessive 74
  • autosomal recessive nonsyndromic deafness 74
dfnb74 nonsyndromic hearing loss and deafness
  • deafness, autosomal recessive 74
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
large intestine lipoma
  • lipoma of large intestine
lipoma of colon
  • colonic lipoma
- 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 64
  2. 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 22 64
  3. Common variants at 12q14 and 12q24 are associated with hippocampal volume. (PMID: 22504421) Bis J.C. … Seshadri S. (Nat. Genet. 2012) 3 46 64
  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 46 64
  5. 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 46 64

Products for MSRB3 Gene

Sources for MSRB3 Gene

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