Aliases for MSRB2 Gene

Aliases for MSRB2 Gene

  • Methionine Sulfoxide Reductase B2 2 3 5
  • Methionine-R-Sulfoxide Reductase B2, Mitochondrial 3 4
  • EC 1.8.4.12 4 54
  • CBS-1 3 4
  • MSRB 3 4
  • Methionine Sulfoxide Reductase B 2
  • Pilin-Like Transcription Factor 3
  • EC 1.8.4.14 4
  • EC 1.8.4 54
  • CGI-131 3
  • MsrB2 4
  • CBS1 3
  • PILB 3

External Ids for MSRB2 Gene

Previous HGNC Symbols for MSRB2 Gene

  • MSRB

Previous GeneCards Identifiers for MSRB2 Gene

  • GC10P023425
  • GC10P023384

Summaries for MSRB2 Gene

GeneCards Summary for MSRB2 Gene

MSRB2 (Methionine Sulfoxide Reductase B2) is a Protein Coding gene. Diseases associated with MSRB2 include Coffin-Siris Syndrome 1 and Autosomal Dominant Non-Syndromic Intellectual Disability. Among its related pathways are Protein repair and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and peptide-methionine (R)-S-oxide reductase activity. An important paralog of this gene is MSRB3.

UniProtKB/Swiss-Prot Summary for MSRB2 Gene

  • Methionine-sulfoxide reductase that specifically reduces methionine (R)-sulfoxide back to methionine. While in many cases, methionine oxidation is the result of random oxidation following oxidative stress, methionine oxidation is also a post-translational modification that takes place on specific residue. Upon oxidative stress, may play a role in the preservation of mitochondrial integrity by decreasing the intracellular reactive oxygen species build-up through its scavenging role, hence contributing to cell survival and protein maintenance.

Gene Wiki entry for MSRB2 Gene

Additional gene information for MSRB2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MSRB2 Gene

Genomics for MSRB2 Gene

GeneHancer (GH) Regulatory Elements for MSRB2 Gene

Promoters and enhancers for MSRB2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J023094 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 756.3 +0.6 632 3.1 ZNF24 ZBTB6 SMARCE1 RBPJ POLR2A CC2D1A L3MBTL2 SP1 ZNF148 NKRF MSRB2 lnc-C10orf67-2 piR-35674-044 ENSG00000286924
GH10J023046 Enhancer 1.1 Ensembl ENCODE 15 -48.0 -47994 1.4 SMARCE1 CC2D1A ELF1 L3MBTL2 TEAD4 ZKSCAN8 MLLT1 CBFA2T2 SMARCA4 ZNF639 MSRB2 RF00017-615 lnc-C10orf67-2 ENSG00000286924
GH10J023054 Enhancer 1.2 FANTOM5 Ensembl ENCODE 11 -39.7 -39697 2 ZNF362 DACH1 TEAD4 SP1 ZC3H8 ZKSCAN8 GTF2F1 CSDE1 ZNF384 NCOA3 OTUD1 MSRB2 lnc-C10orf67-2 RF00017-615 ENSG00000286924
GH10J022596 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 5.2 -478.1 -478121 42.3 ZNF24 ZBTB40 SP1 CTCF GATA3 SREBF1 LCORL RBPJ SMARCE1 CTBP1 PIP4K2A DNAJC1 OTUD1 BMI1 MSRB2 COMMD3 lnc-EBLN1-7 lnc-EBLN1-8
GH10J023051 Enhancer 0.8 ENCODE 10.6 -42.7 -42711 2.9 SREBF1 SMARCE1 L3MBTL2 TEAD4 BCL6B MAFK BACH1 SMARCA4 ZNF639 MTA1 MSRB2 PIP4K2A RF00017-615 lnc-C10orf67-2 ENSG00000286924
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MSRB2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MSRB2 gene promoter:
  • E47
  • Hand1
  • HNF-1
  • HNF-1A
  • Ik-1
  • Lhx3a
  • LHX3b
  • POU2F1
  • POU2F1a
  • RSRFC4

Genomic Locations for MSRB2 Gene

Genomic Locations for MSRB2 Gene
chr10:23,095,498-23,122,013
(GRCh38/hg38)
Size:
26,516 bases
Orientation:
Plus strand
chr10:23,384,427-23,410,942
(GRCh37/hg19)
Size:
26,516 bases
Orientation:
Plus strand

Genomic View for MSRB2 Gene

Genes around MSRB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MSRB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MSRB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MSRB2 Gene

Proteins for MSRB2 Gene

  • Protein details for MSRB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y3D2-MSRB2_HUMAN
    Recommended name:
    Methionine-R-sulfoxide reductase B2, mitochondrial
    Protein Accession:
    Q9Y3D2
    Secondary Accessions:
    • Q17R44
    • Q4G1C7
    • Q9Y5W6

    Protein attributes for MSRB2 Gene

    Size:
    182 amino acids
    Molecular mass:
    19536 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAD34126.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

neXtProt entry for MSRB2 Gene

Selected DME Specific Peptides for MSRB2 Gene

Q9Y3D2:
  • GHVFPDGP
  • GMYHCVCCDSPLFSSE

Post-translational modifications for MSRB2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MSRB2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for MSRB2 Gene

Gene Families for MSRB2 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for MSRB2 Gene

Suggested Antigen Peptide Sequences for MSRB2 Gene

GenScript: Design optimal peptide antigens:
  • Methionine-R-sulfoxide reductase B2, mitochondrial (MSRB2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y3D2

UniProtKB/Swiss-Prot:

MSRB2_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 MSRB2: view

Function for MSRB2 Gene

Molecular function for MSRB2 Gene

UniProtKB/Swiss-Prot Function:
Methionine-sulfoxide reductase that specifically reduces methionine (R)-sulfoxide back to methionine. While in many cases, methionine oxidation is the result of random oxidation following oxidative stress, methionine oxidation is also a post-translational modification that takes place on specific residue. Upon oxidative stress, may play a role in the preservation of mitochondrial integrity by decreasing the intracellular reactive oxygen species build-up through its scavenging role, hence contributing to cell survival and protein maintenance.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[thioredoxin]-disulfide + H2O + L-methionyl-[protein] = [thioredoxin]-dithiol + L-methionyl-(R)-S-oxide-[protein]; Xref=Rhea:RHEA:24164, Rhea:RHEA-COMP:10698, Rhea:RHEA-COMP:10700, Rhea:RHEA-COMP:12313, Rhea:RHEA-COMP:12314, ChEBI:CHEBI:15377, ChEBI:CHEBI:16044, ChEBI:CHEBI:29950, ChEBI:CHEBI:45764, ChEBI:CHEBI:50058; EC=1.8.4.12; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[thioredoxin]-disulfide + H2O + L-methionine = [thioredoxin]-dithiol + L-methionine (R)-S-oxide; Xref=Rhea:RHEA:21260, Rhea:RHEA-COMP:10698, Rhea:RHEA-COMP:10700, ChEBI:CHEBI:15377, ChEBI:CHEBI:29950, ChEBI:CHEBI:50058, ChEBI:CHEBI:57844, ChEBI:CHEBI:58773; EC=1.8.4.14; Evidence=. ;.

Enzyme Numbers (IUBMB) for MSRB2 Gene

Phenotypes From GWAS Catalog for MSRB2 Gene

Gene Ontology (GO) - Molecular Function for MSRB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding ISS --
GO:0008270 zinc ion binding ISS,IEA 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 IEA,ISS 14699060
genes like me logo Genes that share ontologies with MSRB2: view
genes like me logo Genes that share phenotypes with MSRB2: view

Animal Model Products

CRISPR Products

miRNA for MSRB2 Gene

miRTarBase miRNAs that target MSRB2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MSRB2

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MSRB2 Gene

Localization for MSRB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MSRB2 Gene

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 MSRB2 gene
Compartment Confidence
mitochondrion 4
cytosol 4
extracellular 1
nucleus 1
endoplasmic reticulum 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for MSRB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion ISS 14699060
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MSRB2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MSRB2 Gene

Pathways & Interactions for MSRB2 Gene

PathCards logo

SuperPathways for MSRB2 Gene

genes like me logo Genes that share pathways with MSRB2: view

Pathways by source for MSRB2 Gene

1 BioSystems pathway for MSRB2 Gene
2 Reactome pathways for MSRB2 Gene

Gene Ontology (GO) - Biological Process for MSRB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006979 response to oxidative stress IEA --
GO:0030041 actin filament polymerization ISS,IEA --
GO:0030091 protein repair TAS,IEA --
GO:0034599 cellular response to oxidative stress IBA 21873635
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with MSRB2: view

No data available for SIGNOR curated interactions for MSRB2 Gene

Drugs & Compounds for MSRB2 Gene

(6) Drugs for MSRB2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Methionine Approved Nutra Enzyme, substrate 114
methionine sulfoxide Experimental Pharma 0

(2) Additional Compounds for MSRB2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MSRB2: view

Transcripts for MSRB2 Gene

mRNA/cDNA for MSRB2 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(171) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MSRB2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MSRB2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b
SP1: -
SP2: -
SP3:

Relevant External Links for MSRB2 Gene

GeneLoc Exon Structure for
MSRB2
ECgene alternative splicing isoforms for
MSRB2

Expression for MSRB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MSRB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MSRB2 Gene

This gene is overexpressed in Heart - Left Ventricle (x4.0).

Protein differential expression in normal tissues from HIPED for MSRB2 Gene

This gene is overexpressed in Gallbladder (8.9), Heart (8.3), and Rectum (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MSRB2 Gene



Protein tissue co-expression partners for MSRB2 Gene

NURSA nuclear receptor signaling pathways regulating expression of MSRB2 Gene:

MSRB2

SOURCE GeneReport for Unigene cluster for MSRB2 Gene:

Hs.461420

mRNA Expression by UniProt/SwissProt for MSRB2 Gene:

Q9Y3D2-MSRB2_HUMAN
Tissue specificity: Ubiquitous. Detected in retina, ocular ciliary body, skeletal muscle, heart, colon, bone marrow, cerebellum, small intestine, fetal brain, fetal liver, kidney, spinal cord, lung, placenta and prostate.

Evidence on tissue expression from TISSUES for MSRB2 Gene

  • Liver(4.4)
  • Eye(4.3)
  • Nervous system(4.3)
  • Muscle(2.3)
  • Heart(2)
genes like me logo Genes that share expression patterns with MSRB2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MSRB2 Gene

Orthologs for MSRB2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MSRB2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MSRB2 33 32
  • 99.31 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MSRB2 33
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MSRB2 33 32
  • 84.26 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Msrb2 32
  • 81.71 (n)
mouse
(Mus musculus)
Mammalia Msrb2 17 33 32
  • 81.02 (n)
cow
(Bos Taurus)
Mammalia MSRB2 33 32
  • 80.77 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MSRB2 33
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MSRB2 33
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia msrb2 32
  • 69.48 (n)
Str.15443 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.22830 32
zebrafish
(Danio rerio)
Actinopterygii msrb2 33 32
  • 66.92 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5765 32
worm
(Caenorhabditis elegans)
Secernentea F44E2.6 33 32
  • 52.12 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MXR2 33
  • 33 (a)
OneToMany
Species where no ortholog for MSRB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MSRB2 Gene

ENSEMBL:
Gene Tree for MSRB2 (if available)
TreeFam:
Gene Tree for MSRB2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MSRB2: view image

Paralogs for MSRB2 Gene

Paralogs for MSRB2 Gene

(1) SIMAP similar genes for MSRB2 Gene using alignment to 3 proteins:

  • MSRB2_HUMAN
  • A6NCQ5_HUMAN
  • H0YE51_HUMAN
genes like me logo Genes that share paralogs with MSRB2: view

Variants for MSRB2 Gene

Sequence variations from dbSNP and Humsavar for MSRB2 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000286192 -- 23,113,507(+) G/A intron_variant
rs1000391740 -- 23,122,378(+) C/A/T downstream_transcript_variant
rs1000538041 -- 23,093,738(+) A/G upstream_transcript_variant
rs1000592923 -- 23,117,858(+) T/C intron_variant
rs1000661711 -- 23,110,811(+) A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MSRB2 Gene

Variant ID Type Subtype PubMed ID
esv1381341 CNV deletion 17803354
esv2734017 CNV deletion 23290073
esv987760 CNV deletion 20482838
nsv1161931 CNV deletion 26073780
nsv25129 CNV deletion 16902084

Variation tolerance for MSRB2 Gene

Residual Variation Intolerance Score: 91.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.82; 58.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MSRB2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MSRB2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MSRB2 Gene

Disorders for MSRB2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MSRB2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
coffin-siris syndrome 1
  • css1
autosomal dominant non-syndromic intellectual disability
  • autosomal dominant mental retardation
- elite association - COSMIC cancer census association via MalaCards
Search MSRB2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MSRB2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MSRB2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MSRB2 Gene

Publications for MSRB2 Gene

  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. (PMID: 10375640) Huang W … Coca-Prados M (Gene 1999) 2 3 4 23 56
  2. Overexpression of mitochondrial methionine sulfoxide reductase B2 protects leukemia cells from oxidative stress-induced cell death and protein damage. (PMID: 18424444) Cabreiro F … Petropoulos I (The Journal of biological chemistry 2008) 3 4 23 56
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 43 56
  4. Differential expression of the antioxidant repair enzyme methionine sulfoxide reductase (MSRA and MSRB) in human skin. (PMID: 19542914) Taungjaruwinai WM … Thiele JJ (The American Journal of dermatopathology 2009) 3 23 56
  5. Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey. (PMID: 18977241) Starr JM … Deary IJ (Mechanisms of ageing and development 2008) 3 43 56

Products for MSRB2 Gene

Sources for MSRB2 Gene