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MSRB3 (methionine sulfoxide reductase B3)

Identity

Alias_namesDFNB74
deafness
Alias_symbol (synonym)FLJ36866
DKFZp686C1178
HGNC (Hugo) MSRB3
LocusID (NCBI) 253827
Atlas_Id 43002
Location 12q14.3  [Link to chromosome band 12q14]
Location_base_pair Starts at 65672423 and ends at 65860687 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
FRS2 (12q15) / MSRB3 (12q14.3)MSRB3 (12q14.3) / BCL2L14 (12p13.2)MSRB3 (12q14.3) / JAZF1 (7p15.2)
SARAF (8p12) / MSRB3 (12q14.3)SENP1 (12q13.11) / MSRB3 (12q14.3)TMBIM4 (12q14.3) / MSRB3 (12q14.3)
FRS2 12q15 / MSRB3 12q14.3MSRB3 12q14.3 / BCL2L14 12p13.2MSRB3 12q14.3 / JAZF1 7p15.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)MSRB3   27375
Cards
Entrez_Gene (NCBI)MSRB3  253827  methionine sulfoxide reductase B3
AliasesDFNB74
GeneCards (Weizmann)MSRB3
Ensembl hg19 (Hinxton)ENSG00000174099 [Gene_View]  chr12:65672423-65860687 [Contig_View]  MSRB3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000174099 [Gene_View]  chr12:65672423-65860687 [Contig_View]  MSRB3 [Vega]
ICGC DataPortalENSG00000174099
TCGA cBioPortalMSRB3
AceView (NCBI)MSRB3
Genatlas (Paris)MSRB3
WikiGenes253827
SOURCE (Princeton)MSRB3
Genetics Home Reference (NIH)MSRB3
Genomic and cartography
GoldenPath hg19 (UCSC)MSRB3  -     chr12:65672423-65860687 +  12q14.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MSRB3  -     12q14.3   [Description]    (hg38-Dec_2013)
EnsemblMSRB3 - 12q14.3 [CytoView hg19]  MSRB3 - 12q14.3 [CytoView hg38]
Mapping of homologs : NCBIMSRB3 [Mapview hg19]  MSRB3 [Mapview hg38]
OMIM613718   613719   
Gene and transcription
Genbank (Entrez)AK094185 AK122602 AK293084 AK299065 AK316365
RefSeq transcript (Entrez)NM_001031679 NM_001193460 NM_001193461 NM_198080
RefSeq genomic (Entrez)NC_000012 NC_018923 NG_023441 NT_029419 NW_004929384
Consensus coding sequences : CCDS (NCBI)MSRB3
Cluster EST : UnigeneHs.339024 [ NCBI ]
CGAP (NCI)Hs.339024
Alternative Splicing GalleryENSG00000174099
Gene ExpressionMSRB3 [ NCBI-GEO ]   MSRB3 [ EBI - ARRAY_EXPRESS ]   MSRB3 [ SEEK ]   MSRB3 [ MEM ]
Gene Expression Viewer (FireBrowse)MSRB3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)253827
GTEX Portal (Tissue expression)MSRB3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IXL7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IXL7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IXL7
Splice isoforms : SwissVarQ8IXL7
Catalytic activity : Enzyme1.8.4.- [ Enzyme-Expasy ]   1.8.4.-1.8.4.- [ IntEnz-EBI ]   1.8.4.- [ BRENDA ]   1.8.4.- [ KEGG ]   
PhosPhoSitePlusQ8IXL7
Domains : Interpro (EBI)Met_Sox_Rdtase    Met_Sox_Rdtase_MsrB    Mss4-like   
Domain families : Pfam (Sanger)SelR (PF01641)   
Domain families : Pfam (NCBI)pfam01641   
Conserved Domain (NCBI)MSRB3
DMDM Disease mutations253827
Blocks (Seattle)MSRB3
SuperfamilyQ8IXL7
Human Protein AtlasENSG00000174099
Peptide AtlasQ8IXL7
HPRD14785
IPIIPI00217550   IPI00479793   IPI01013461   IPI01013007   IPI01012074   IPI01011131   IPI01012459   IPI00941512   
Protein Interaction databases
DIP (DOE-UCLA)Q8IXL7
IntAct (EBI)Q8IXL7
FunCoupENSG00000174099
BioGRIDMSRB3
STRING (EMBL)MSRB3
ZODIACMSRB3
Ontologies - Pathways
QuickGOQ8IXL7
Ontology : AmiGOprotein binding  mitochondrion  endoplasmic reticulum  cytosol  response to oxidative stress  zinc ion binding  protein repair  protein repair  peptide-methionine (R)-S-oxide reductase activity  peptide-methionine (R)-S-oxide reductase activity  oxidation-reduction process  
Ontology : EGO-EBIprotein binding  mitochondrion  endoplasmic reticulum  cytosol  response to oxidative stress  zinc ion binding  protein repair  protein repair  peptide-methionine (R)-S-oxide reductase activity  peptide-methionine (R)-S-oxide reductase activity  oxidation-reduction process  
NDEx NetworkMSRB3
Atlas of Cancer Signalling NetworkMSRB3
Wikipedia pathwaysMSRB3
Orthology - Evolution
OrthoDB253827
GeneTree (enSembl)ENSG00000174099
Phylogenetic Trees/Animal Genes : TreeFamMSRB3
HOVERGENQ8IXL7
HOGENOMQ8IXL7
Homologs : HomoloGeneMSRB3
Homology/Alignments : Family Browser (UCSC)MSRB3
Gene fusions - Rearrangements
Fusion : MitelmanFRS2/MSRB3 [12q15/12q14.3]  [t(12;12)(q14;q15)]  
Fusion : MitelmanMSRB3/BCL2L14 [12q14.3/12p13.2]  [t(12;12)(p13;q14)]  
Fusion : MitelmanMSRB3/JAZF1 [12q14.3/7p15.2]  [t(7;12)(p15;q14)]  
Fusion : MitelmanSARAF/MSRB3 [8p12/12q14.3]  [t(8;12)(p12;q14)]  
Fusion : MitelmanTMBIM4/MSRB3 [12q14.3/12q14.3]  [t(12;12)(q14;q14)]  
Fusion: TCGAFRS2 12q15 MSRB3 12q14.3 GBM
Fusion: TCGAMSRB3 12q14.3 BCL2L14 12p13.2 LUSC
Fusion: TCGAMSRB3 12q14.3 JAZF1 7p15.2 LGG
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMSRB3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MSRB3
dbVarMSRB3
ClinVarMSRB3
1000_GenomesMSRB3 
Exome Variant ServerMSRB3
ExAC (Exome Aggregation Consortium)MSRB3 (select the gene name)
Genetic variants : HAPMAP253827
Genomic Variants (DGV)MSRB3 [DGVbeta]
DECIPHER (Syndromes)12:65672423-65860687  ENSG00000174099
CONAN: Copy Number AnalysisMSRB3 
Mutations
ICGC Data PortalMSRB3 
TCGA Data PortalMSRB3 
Broad Tumor PortalMSRB3
OASIS PortalMSRB3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMSRB3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMSRB3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MSRB3
DgiDB (Drug Gene Interaction Database)MSRB3
DoCM (Curated mutations)MSRB3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MSRB3 (select a term)
intoGenMSRB3
Cancer3DMSRB3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613718    613719   
Orphanet12047   
MedgenMSRB3
Genetic Testing Registry MSRB3
NextProtQ8IXL7 [Medical]
TSGene253827
GENETestsMSRB3
Huge Navigator MSRB3 [HugePedia]
snp3D : Map Gene to Disease253827
BioCentury BCIQMSRB3
ClinGenMSRB3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD253827
Chemical/Pharm GKB GenePA134991350
Clinical trialMSRB3
Miscellaneous
canSAR (ICR)MSRB3 (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMSRB3
EVEXMSRB3
GoPubMedMSRB3
iHOPMSRB3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Nov 18 19:44:58 CET 2016

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