Atlas of Genetics and Cytogenetics in Oncology and Haematology


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MEF2C (myocyte enhancer factor 2C)

Identity

Other aliasC5DELq14.3
DEL5q14.3
HGNC (Hugo) MEF2C
LocusID (NCBI) 4208
Atlas_Id 50136
Location 5q14.3  [Link to chromosome band 5q14]
Location_base_pair Starts at 88014058 and ends at 88199922 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CLINT1 (5q33.3) / MEF2C (5q14.3)HLA-F (6p22.1) / MEF2C (5q14.3)HNRNPR (1p36.12) / MEF2C (5q14.3)
MEF2C (5q14.3) / KMT2A (11q23.3)MEF2C (5q14.3) / MEF2C (5q14.3)RPRD2 (1q21.3) / MEF2C (5q14.3)
TBC1D17 (19q13.33) / MEF2C (5q14.3)TRAF3IP2-AS1 (6q21) / MEF2C (5q14.3)

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

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(9;17)(p13;p12) PAX5/NCOR1


External links

Nomenclature
HGNC (Hugo)MEF2C   6996
Cards
Entrez_Gene (NCBI)MEF2C  4208  myocyte enhancer factor 2C
AliasesC5DELq14.3; DEL5q14.3
GeneCards (Weizmann)MEF2C
Ensembl hg19 (Hinxton)ENSG00000081189 [Gene_View]  chr5:88014058-88199922 [Contig_View]  MEF2C [Vega]
Ensembl hg38 (Hinxton)ENSG00000081189 [Gene_View]  chr5:88014058-88199922 [Contig_View]  MEF2C [Vega]
ICGC DataPortalENSG00000081189
TCGA cBioPortalMEF2C
AceView (NCBI)MEF2C
Genatlas (Paris)MEF2C
WikiGenes4208
SOURCE (Princeton)MEF2C
Genetics Home Reference (NIH)MEF2C
Genomic and cartography
GoldenPath hg19 (UCSC)MEF2C  -     chr5:88014058-88199922 -  5q14.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MEF2C  -     5q14.3   [Description]    (hg38-Dec_2013)
EnsemblMEF2C - 5q14.3 [CytoView hg19]  MEF2C - 5q14.3 [CytoView hg38]
Mapping of homologs : NCBIMEF2C [Mapview hg19]  MEF2C [Mapview hg38]
OMIM600662   613443   
Gene and transcription
Genbank (Entrez)AK307883 AK312472 AL833268 AL833274 AW191949
RefSeq transcript (Entrez)NM_001131005 NM_001193347 NM_001193348 NM_001193349 NM_001193350 NM_001308002 NM_002397
RefSeq genomic (Entrez)NC_000005 NC_018916 NG_023427 NT_034772 NW_004929322
Consensus coding sequences : CCDS (NCBI)MEF2C
Cluster EST : UnigeneHs.649965 [ NCBI ]
CGAP (NCI)Hs.649965
Alternative Splicing GalleryENSG00000081189
Gene ExpressionMEF2C [ NCBI-GEO ]   MEF2C [ EBI - ARRAY_EXPRESS ]   MEF2C [ SEEK ]   MEF2C [ MEM ]
Gene Expression Viewer (FireBrowse)MEF2C [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4208
GTEX Portal (Tissue expression)MEF2C
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ06413   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ06413  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ06413
Splice isoforms : SwissVarQ06413
PhosPhoSitePlusQ06413
Domaine pattern : Prosite (Expaxy)MADS_BOX_1 (PS00350)    MADS_BOX_2 (PS50066)   
Domains : Interpro (EBI)HJURP_C    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)MEF2C
DMDM Disease mutations4208
Blocks (Seattle)MEF2C
SuperfamilyQ06413
Human Protein AtlasENSG00000081189
Peptide AtlasQ06413
HPRD02809
IPIIPI00970984   
Protein Interaction databases
DIP (DOE-UCLA)Q06413
IntAct (EBI)Q06413
FunCoupENSG00000081189
BioGRIDMEF2C
STRING (EMBL)MEF2C
ZODIACMEF2C
Ontologies - Pathways
QuickGOQ06413
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  MAPK cascade  MAPK cascade  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II distal enhancer sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  transcription factor activity, RNA polymerase II core promoter sequence-specific  core promoter sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding  blood vessel development  osteoblast differentiation  neuron migration  B cell homeostasis  heart looping  endochondral ossification  blood vessel remodeling  chondrocyte differentiation  germinal center formation  regulation of germinal center formation  primary heart field specification  secondary heart field specification  outflow tract morphogenesis  sinoatrial valve morphogenesis  cardiac ventricle formation  DNA binding  AT DNA binding  chromatin binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  regulation of transcription, DNA-templated  transcription from RNA polymerase II promoter  transcription from RNA polymerase II promoter  apoptotic process  humoral immune response  nervous system development  heart development  heart development  heart development  muscle organ development  skeletal muscle tissue development  muscle cell fate determination  learning or memory  response to virus  positive regulation of gene expression  negative regulation of gene expression  positive regulation of alkaline phosphatase activity  neural crest cell differentiation  cardiac muscle hypertrophy in response to stress  myotube differentiation  nuclear speck  neuron differentiation  neuron differentiation  platelet formation  monocyte differentiation  negative regulation of ossification  melanocyte differentiation  positive regulation of bone mineralization  positive regulation of B cell proliferation  activating transcription factor binding  miRNA binding  cellular response to drug  skeletal muscle cell differentiation  cellular response to trichostatin A  B cell proliferation  histone deacetylase binding  intracellular membrane-bounded organelle  protein complex  regulation of neuron apoptotic process  negative regulation of neuron apoptotic process  transcription regulatory region DNA binding  regulation of megakaryocyte differentiation  positive regulation of myoblast differentiation  positive regulation of neuron differentiation  positive regulation of osteoblast differentiation  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  regulation of neurotransmitter secretion  protein heterodimerization activity  regulation of synaptic plasticity  positive regulation of skeletal muscle tissue development  neuron development  cell morphogenesis involved in neuron differentiation  embryonic viscerocranium morphogenesis  negative regulation of epithelial cell proliferation  B cell receptor signaling pathway  smooth muscle cell differentiation  positive regulation of muscle cell differentiation  regulation of synapse assembly  regulation of synaptic transmission, glutamatergic  ventricular cardiac muscle cell differentiation  palate development  regulation of synaptic activity  positive regulation of cardiac muscle cell proliferation  excitatory postsynaptic potential  regulation of sarcomere organization  cartilage morphogenesis  regulation of dendritic spine development  renal tubule morphogenesis  cellular response to lipopolysaccharide  cellular response to calcium ion  cellular response to parathyroid hormone stimulus  cellular response to fluid shear stress  cellular response to transforming growth factor beta stimulus  HMG box domain binding  positive regulation of cell proliferation in bone marrow  glomerulus morphogenesis  nephron tubule epithelial cell differentiation  positive regulation of protein homodimerization activity  postsynapse  postsynapse  positive regulation of macrophage apoptotic process  regulation of N-methyl-D-aspartate selective glutamate receptor activity  regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity  positive regulation of cardiac muscle cell differentiation  positive regulation of behavioral fear response  epithelial cell proliferation involved in renal tubule morphogenesis  positive regulation of skeletal muscle cell differentiation  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  MAPK cascade  MAPK cascade  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II distal enhancer sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  transcription factor activity, RNA polymerase II core promoter sequence-specific  core promoter sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding  blood vessel development  osteoblast differentiation  neuron migration  B cell homeostasis  heart looping  endochondral ossification  blood vessel remodeling  chondrocyte differentiation  germinal center formation  regulation of germinal center formation  primary heart field specification  secondary heart field specification  outflow tract morphogenesis  sinoatrial valve morphogenesis  cardiac ventricle formation  DNA binding  AT DNA binding  chromatin binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  regulation of transcription, DNA-templated  transcription from RNA polymerase II promoter  transcription from RNA polymerase II promoter  apoptotic process  humoral immune response  nervous system development  heart development  heart development  heart development  muscle organ development  skeletal muscle tissue development  muscle cell fate determination  learning or memory  response to virus  positive regulation of gene expression  negative regulation of gene expression  positive regulation of alkaline phosphatase activity  neural crest cell differentiation  cardiac muscle hypertrophy in response to stress  myotube differentiation  nuclear speck  neuron differentiation  neuron differentiation  platelet formation  monocyte differentiation  negative regulation of ossification  melanocyte differentiation  positive regulation of bone mineralization  positive regulation of B cell proliferation  activating transcription factor binding  miRNA binding  cellular response to drug  skeletal muscle cell differentiation  cellular response to trichostatin A  B cell proliferation  histone deacetylase binding  intracellular membrane-bounded organelle  protein complex  regulation of neuron apoptotic process  negative regulation of neuron apoptotic process  transcription regulatory region DNA binding  regulation of megakaryocyte differentiation  positive regulation of myoblast differentiation  positive regulation of neuron differentiation  positive regulation of osteoblast differentiation  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  regulation of neurotransmitter secretion  protein heterodimerization activity  regulation of synaptic plasticity  positive regulation of skeletal muscle tissue development  neuron development  cell morphogenesis involved in neuron differentiation  embryonic viscerocranium morphogenesis  negative regulation of epithelial cell proliferation  B cell receptor signaling pathway  smooth muscle cell differentiation  positive regulation of muscle cell differentiation  regulation of synapse assembly  regulation of synaptic transmission, glutamatergic  ventricular cardiac muscle cell differentiation  palate development  regulation of synaptic activity  positive regulation of cardiac muscle cell proliferation  excitatory postsynaptic potential  regulation of sarcomere organization  cartilage morphogenesis  regulation of dendritic spine development  renal tubule morphogenesis  cellular response to lipopolysaccharide  cellular response to calcium ion  cellular response to parathyroid hormone stimulus  cellular response to fluid shear stress  cellular response to transforming growth factor beta stimulus  HMG box domain binding  positive regulation of cell proliferation in bone marrow  glomerulus morphogenesis  nephron tubule epithelial cell differentiation  positive regulation of protein homodimerization activity  postsynapse  postsynapse  positive regulation of macrophage apoptotic process  regulation of N-methyl-D-aspartate selective glutamate receptor activity  regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity  positive regulation of cardiac muscle cell differentiation  positive regulation of behavioral fear response  epithelial cell proliferation involved in renal tubule morphogenesis  positive regulation of skeletal muscle cell differentiation  
Pathways : BIOCARTAALK in cardiac myocytes [Genes]    CARM1 and Regulation of the Estrogen Receptor [Genes]    NFAT and Hypertrophy of the heart (Transcription in the broken heart) [Genes]   
Pathways : KEGGMAPK signaling pathway    Transcriptional misregulation in cancer   
NDEx NetworkMEF2C
Atlas of Cancer Signalling NetworkMEF2C
Wikipedia pathwaysMEF2C
Orthology - Evolution
OrthoDB4208
GeneTree (enSembl)ENSG00000081189
Phylogenetic Trees/Animal Genes : TreeFamMEF2C
HOVERGENQ06413
HOGENOMQ06413
Homologs : HomoloGeneMEF2C
Homology/Alignments : Family Browser (UCSC)MEF2C
Gene fusions - Rearrangements
Fusion : MitelmanCLINT1/MEF2C [5q33.3/5q14.3]  [t(5;5)(q14;q33)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMEF2C [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MEF2C
dbVarMEF2C
ClinVarMEF2C
1000_GenomesMEF2C 
Exome Variant ServerMEF2C
ExAC (Exome Aggregation Consortium)MEF2C (select the gene name)
Genetic variants : HAPMAP4208
Genomic Variants (DGV)MEF2C [DGVbeta]
DECIPHER (Syndromes)5:88014058-88199922  ENSG00000081189
CONAN: Copy Number AnalysisMEF2C 
Mutations
ICGC Data PortalMEF2C 
TCGA Data PortalMEF2C 
Broad Tumor PortalMEF2C
OASIS PortalMEF2C [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMEF2C  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMEF2C
intOGen PortalMEF2C
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MEF2C
DgiDB (Drug Gene Interaction Database)MEF2C
DoCM (Curated mutations)MEF2C (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MEF2C (select a term)
intoGenMEF2C
Cancer3DMEF2C(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600662    613443   
Orphanet19119   
MedgenMEF2C
Genetic Testing Registry MEF2C
NextProtQ06413 [Medical]
TSGene4208
GENETestsMEF2C
Huge Navigator MEF2C [HugePedia]
snp3D : Map Gene to Disease4208
BioCentury BCIQMEF2C
ClinGenMEF2C (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4208
Chemical/Pharm GKB GenePA30734
Clinical trialMEF2C
Miscellaneous
canSAR (ICR)MEF2C (select the gene name)
Probes
Litterature
PubMed139 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMEF2C
EVEXMEF2C
GoPubMedMEF2C
iHOPMEF2C
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Mar 14 13:14:55 CET 2017

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