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MEF2B (myocyte enhancer factor 2B)

Identity

Alias_symbol (synonym)RSRFR2
Other alias
HGNC (Hugo) MEF2B
LocusID (NCBI) 100271849
Atlas_Id 52402
Location 19p13.11  [Link to chromosome band 19p13]
Location_base_pair Starts at 19145567 and ends at 19170289 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BORCS8 (19p13.11) / MEF2B (19p13.11)MEF2B (19p13.11) / BORCS8 (19p13.11)SUGP2 (19p13.11) / MEF2B (19p13.11)
TADA2A (17q12) / MEF2B (19p13.11)SUGP2 19p13.11 / MEF2B 19p13.11

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)MEF2B   6995
Cards
Entrez_Gene (NCBI)MEF2B  100271849  myocyte enhancer factor 2B
AliasesRSRFR2
GeneCards (Weizmann)MEF2B
Ensembl hg19 (Hinxton)ENSG00000064489 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000064489 [Gene_View]  chr19:19145567-19170289 [Contig_View]  MEF2B [Vega]
ICGC DataPortalENSG00000064489
TCGA cBioPortalMEF2B
AceView (NCBI)MEF2B
Genatlas (Paris)MEF2B
WikiGenes100271849
SOURCE (Princeton)MEF2B
Genetics Home Reference (NIH)MEF2B
Genomic and cartography
GoldenPath hg38 (UCSC)MEF2B  -     chr19:19145567-19170289 -  19p13.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MEF2B  -     19p13.11   [Description]    (hg19-Feb_2009)
EnsemblMEF2B - 19p13.11 [CytoView hg19]  MEF2B - 19p13.11 [CytoView hg38]
Mapping of homologs : NCBIMEF2B [Mapview hg19]  MEF2B [Mapview hg38]
OMIM600661   
Gene and transcription
Genbank (Entrez)AI499707 AK057210 DA488022
RefSeq transcript (Entrez)NM_001145785
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MEF2B
Cluster EST : UnigeneHs.153629 [ NCBI ]
CGAP (NCI)Hs.153629
Alternative Splicing GalleryENSG00000064489
Gene ExpressionMEF2B [ NCBI-GEO ]   MEF2B [ EBI - ARRAY_EXPRESS ]   MEF2B [ SEEK ]   MEF2B [ MEM ]
Gene Expression Viewer (FireBrowse)MEF2B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)100271849
GTEX Portal (Tissue expression)MEF2B
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ02080   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ02080  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ02080
Splice isoforms : SwissVarQ02080
PhosPhoSitePlusQ02080
Domaine pattern : Prosite (Expaxy)MADS_BOX_1 (PS00350)    MADS_BOX_2 (PS50066)   
Domains : Interpro (EBI)MADS_MEF2-like    TF_MADSbox   
Domain families : Pfam (Sanger)SRF-TF (PF00319)   
Domain families : Pfam (NCBI)pfam00319   
Domain families : Smart (EMBL)MADS (SM00432)  
Conserved Domain (NCBI)MEF2B
DMDM Disease mutations100271849
Blocks (Seattle)MEF2B
PDB (SRS)1N6J    1TQE   
PDB (PDBSum)1N6J    1TQE   
PDB (IMB)1N6J    1TQE   
PDB (RSDB)1N6J    1TQE   
Structural Biology KnowledgeBase1N6J    1TQE   
SCOP (Structural Classification of Proteins)1N6J    1TQE   
CATH (Classification of proteins structures)1N6J    1TQE   
SuperfamilyQ02080
Human Protein AtlasENSG00000064489
Peptide AtlasQ02080
IPIIPI00024082   
Protein Interaction databases
DIP (DOE-UCLA)Q02080
IntAct (EBI)Q02080
FunCoupENSG00000064489
BioGRIDMEF2B
STRING (EMBL)MEF2B
ZODIACMEF2B
Ontologies - Pathways
QuickGOQ02080
Ontology : AmiGOMAPK cascade  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  transcription factor activity, sequence-specific DNA binding  nucleus  transcription factor complex  transcription from RNA polymerase II promoter  muscle organ development  histone deacetylase binding  positive regulation of transcription from RNA polymerase II promoter  protein dimerization activity  
Ontology : EGO-EBIMAPK cascade  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  transcription factor activity, sequence-specific DNA binding  nucleus  transcription factor complex  transcription from RNA polymerase II promoter  muscle organ development  histone deacetylase binding  positive regulation of transcription from RNA polymerase II promoter  protein dimerization activity  
NDEx NetworkMEF2B
Atlas of Cancer Signalling NetworkMEF2B
Wikipedia pathwaysMEF2B
Orthology - Evolution
OrthoDB100271849
GeneTree (enSembl)ENSG00000064489
Phylogenetic Trees/Animal Genes : TreeFamMEF2B
HOVERGENQ02080
HOGENOMQ02080
Homologs : HomoloGeneMEF2B
Homology/Alignments : Family Browser (UCSC)MEF2B
Gene fusions - Rearrangements
Fusion : MitelmanSUGP2/MEF2B [19p13.11/19p13.11]  [t(19;19)(p13;p13)]  
Fusion : MitelmanTADA2A/MEF2B [17q12/19p13.11]  [t(17;19)(q12;p13)]  
Fusion: TCGASUGP2 19p13.11 MEF2B 19p13.11 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMEF2B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MEF2B
dbVarMEF2B
ClinVarMEF2B
1000_GenomesMEF2B 
Exome Variant ServerMEF2B
ExAC (Exome Aggregation Consortium)MEF2B (select the gene name)
Genetic variants : HAPMAP100271849
Genomic Variants (DGV)MEF2B [DGVbeta]
DECIPHERMEF2B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMEF2B 
Mutations
ICGC Data PortalMEF2B 
TCGA Data PortalMEF2B 
Broad Tumor PortalMEF2B
OASIS PortalMEF2B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMEF2B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMEF2B
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 MEF2B
DgiDB (Drug Gene Interaction Database)MEF2B
DoCM (Curated mutations)MEF2B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MEF2B (select a term)
intoGenMEF2B
Cancer3DMEF2B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600661   
Orphanet
MedgenMEF2B
Genetic Testing Registry MEF2B
NextProtQ02080 [Medical]
TSGene100271849
GENETestsMEF2B
Target ValidationMEF2B
Huge Navigator MEF2B [HugePedia]
snp3D : Map Gene to Disease100271849
BioCentury BCIQMEF2B
ClinGenMEF2B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD100271849
Chemical/Pharm GKB GenePA30733
Clinical trialMEF2B
Miscellaneous
canSAR (ICR)MEF2B (select the gene name)
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMEF2B
EVEXMEF2B
GoPubMedMEF2B
iHOPMEF2B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:42:43 CEST 2017

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