Atlas of Genetics and Cytogenetics in Oncology and Haematology


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MEF2A (myocyte enhancer factor 2A)

Identity

Alias_symbol (synonym)RSRFC4
RSRFC9
Other aliasADCAD1
mef2
HGNC (Hugo) MEF2A
LocusID (NCBI) 4205
Atlas_Id 50132
Location 15q26.3  [Link to chromosome band 15q26]
Location_base_pair Starts at 99565928 and ends at 99716488 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
MEF2A (15q26.3) / GLG1 (16q23.1)MEF2A (15q26.3) / GRM1 (6q24.3)MEF2A (15q26.3) / MEF2A (15q26.3)
MEF2A (15q26.3) / NFATC2 (20q13.2)PRKCSH (19p13.2) / MEF2A (15q26.3)MEF2A 15q26.3 / NFATC2 20q13.2

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)MEF2A   6993
Cards
Entrez_Gene (NCBI)MEF2A  4205  myocyte enhancer factor 2A
AliasesADCAD1; RSRFC4; RSRFC9; mef2
GeneCards (Weizmann)MEF2A
Ensembl hg19 (Hinxton)ENSG00000068305 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000068305 [Gene_View]  chr15:99565928-99716488 [Contig_View]  MEF2A [Vega]
ICGC DataPortalENSG00000068305
TCGA cBioPortalMEF2A
AceView (NCBI)MEF2A
Genatlas (Paris)MEF2A
WikiGenes4205
SOURCE (Princeton)MEF2A
Genetics Home Reference (NIH)MEF2A
Genomic and cartography
GoldenPath hg38 (UCSC)MEF2A  -     chr15:99565928-99716488 +  15q26.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MEF2A  -     15q26.3   [Description]    (hg19-Feb_2009)
EnsemblMEF2A - 15q26.3 [CytoView hg19]  MEF2A - 15q26.3 [CytoView hg38]
Mapping of homologs : NCBIMEF2A [Mapview hg19]  MEF2A [Mapview hg38]
OMIM600660   608320   
Gene and transcription
Genbank (Entrez)AB208985 AK291835 AK294207 AL831995 AM392739
RefSeq transcript (Entrez)NM_001130926 NM_001130927 NM_001130928 NM_001171894 NM_001319206 NM_005587
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MEF2A
Cluster EST : UnigeneHs.268675 [ NCBI ]
CGAP (NCI)Hs.268675
Alternative Splicing GalleryENSG00000068305
Gene ExpressionMEF2A [ NCBI-GEO ]   MEF2A [ EBI - ARRAY_EXPRESS ]   MEF2A [ SEEK ]   MEF2A [ MEM ]
Gene Expression Viewer (FireBrowse)MEF2A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4205
GTEX Portal (Tissue expression)MEF2A
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ02078   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ02078  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ02078
Splice isoforms : SwissVarQ02078
PhosPhoSitePlusQ02078
Domaine pattern : Prosite (Expaxy)MADS_BOX_1 (PS00350)    MADS_BOX_2 (PS50066)   
Domains : Interpro (EBI)HJURP_C    MADS_MEF2-like    TF_MADSbox   
Domain families : Pfam (Sanger)HJURP_C (PF12347)    SRF-TF (PF00319)   
Domain families : Pfam (NCBI)pfam12347    pfam00319   
Domain families : Smart (EMBL)MADS (SM00432)  
Conserved Domain (NCBI)MEF2A
DMDM Disease mutations4205
Blocks (Seattle)MEF2A
PDB (SRS)1C7U    1EGW    1LEW    3KOV    3MU6    3P57   
PDB (PDBSum)1C7U    1EGW    1LEW    3KOV    3MU6    3P57   
PDB (IMB)1C7U    1EGW    1LEW    3KOV    3MU6    3P57   
PDB (RSDB)1C7U    1EGW    1LEW    3KOV    3MU6    3P57   
Structural Biology KnowledgeBase1C7U    1EGW    1LEW    3KOV    3MU6    3P57   
SCOP (Structural Classification of Proteins)1C7U    1EGW    1LEW    3KOV    3MU6    3P57   
CATH (Classification of proteins structures)1C7U    1EGW    1LEW    3KOV    3MU6    3P57   
SuperfamilyQ02078
Human Protein AtlasENSG00000068305
Peptide AtlasQ02078
HPRD02807
IPIIPI00398406   IPI00219254   IPI00219255   IPI00747318   IPI00555797   IPI01018184   IPI01017959   
Protein Interaction databases
DIP (DOE-UCLA)Q02078
IntAct (EBI)Q02078
FunCoupENSG00000068305
BioGRIDMEF2A
STRING (EMBL)MEF2A
ZODIACMEF2A
Ontologies - Pathways
QuickGOQ02078
Ontology : AmiGOmitochondrial genome maintenance  negative regulation of transcription from RNA polymerase II promoter  MAPK cascade  nuclear chromatin  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  RNA polymerase II transcription factor binding  RNA polymerase II transcription coactivator activity  chromatin binding  transcription factor activity, sequence-specific DNA binding  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  protein binding  protein binding  nucleus  nucleoplasm  nucleoplasm  transcription factor complex  cytosol  transcription, DNA-templated  transcription from RNA polymerase II promoter  apoptotic process  heart development  muscle organ development  positive regulation of cardiac muscle hypertrophy  positive regulation of cardiac muscle hypertrophy  protein kinase binding  activating transcription factor binding  histone acetyltransferase binding  histone deacetylase binding  sequence-specific DNA binding  positive regulation of transcription from RNA polymerase II promoter  SMAD binding  protein heterodimerization activity  mitochondrion distribution  dendrite morphogenesis  positive regulation of muscle cell differentiation  ventricular cardiac myofibril assembly  cardiac conduction  ERK5 cascade  cellular response to calcium ion  
Ontology : EGO-EBImitochondrial genome maintenance  negative regulation of transcription from RNA polymerase II promoter  MAPK cascade  nuclear chromatin  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  RNA polymerase II transcription factor binding  RNA polymerase II transcription coactivator activity  chromatin binding  transcription factor activity, sequence-specific DNA binding  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  protein binding  protein binding  nucleus  nucleoplasm  nucleoplasm  transcription factor complex  cytosol  transcription, DNA-templated  transcription from RNA polymerase II promoter  apoptotic process  heart development  muscle organ development  positive regulation of cardiac muscle hypertrophy  positive regulation of cardiac muscle hypertrophy  protein kinase binding  activating transcription factor binding  histone acetyltransferase binding  histone deacetylase binding  sequence-specific DNA binding  positive regulation of transcription from RNA polymerase II promoter  SMAD binding  protein heterodimerization activity  mitochondrion distribution  dendrite morphogenesis  positive regulation of muscle cell differentiation  ventricular cardiac myofibril assembly  cardiac conduction  ERK5 cascade  cellular response to calcium ion  
NDEx NetworkMEF2A
Atlas of Cancer Signalling NetworkMEF2A
Wikipedia pathwaysMEF2A
Orthology - Evolution
OrthoDB4205
GeneTree (enSembl)ENSG00000068305
Phylogenetic Trees/Animal Genes : TreeFamMEF2A
HOVERGENQ02078
HOGENOMQ02078
Homologs : HomoloGeneMEF2A
Homology/Alignments : Family Browser (UCSC)MEF2A
Gene fusions - Rearrangements
Fusion : MitelmanMEF2A/GRM1 [15q26.3/6q24.3]  
Fusion : MitelmanMEF2A/NFATC2 [15q26.3/20q13.2]  [t(15;20)(q26;q13)]  
Fusion: TCGAMEF2A 15q26.3 NFATC2 20q13.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMEF2A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MEF2A
dbVarMEF2A
ClinVarMEF2A
1000_GenomesMEF2A 
Exome Variant ServerMEF2A
ExAC (Exome Aggregation Consortium)MEF2A (select the gene name)
Genetic variants : HAPMAP4205
Genomic Variants (DGV)MEF2A [DGVbeta]
DECIPHERMEF2A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMEF2A 
Mutations
ICGC Data PortalMEF2A 
TCGA Data PortalMEF2A 
Broad Tumor PortalMEF2A
OASIS PortalMEF2A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMEF2A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMEF2A
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 MEF2A
DgiDB (Drug Gene Interaction Database)MEF2A
DoCM (Curated mutations)MEF2A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MEF2A (select a term)
intoGenMEF2A
Cancer3DMEF2A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600660    608320   
Orphanet
MedgenMEF2A
Genetic Testing Registry MEF2A
NextProtQ02078 [Medical]
TSGene4205
GENETestsMEF2A
Target ValidationMEF2A
Huge Navigator MEF2A [HugePedia]
snp3D : Map Gene to Disease4205
BioCentury BCIQMEF2A
ClinGenMEF2A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4205
Chemical/Pharm GKB GenePA30731
Clinical trialMEF2A
Miscellaneous
canSAR (ICR)MEF2A (select the gene name)
Probes
Litterature
PubMed136 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMEF2A
EVEXMEF2A
GoPubMedMEF2A
iHOPMEF2A
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 : Tue Aug 1 17:06:35 CEST 2017

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