ENSG00000068305


Homo sapiens

Features
Gene ID: ENSG00000068305
  
Biological name :MEF2A
  
Synonyms : MEF2A / myocyte enhancer factor 2A / Q02078
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 15
Strand: 1
Band: q26.3
Gene start: 99565417
Gene end: 99716466
  
Corresponding Affymetrix probe sets: 208328_s_at (Human Genome U133 Plus 2.0 Array)   212535_at (Human Genome U133 Plus 2.0 Array)   214684_at (Human Genome U133 Plus 2.0 Array)   242176_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000453095
Ensembl peptide - ENSP00000452989
Ensembl peptide - ENSP00000453441
Ensembl peptide - ENSP00000454120
Ensembl peptide - ENSP00000454023
Ensembl peptide - ENSP00000453478
Ensembl peptide - ENSP00000337202
Ensembl peptide - ENSP00000346389
Ensembl peptide - ENSP00000399460
NCBI entrez gene - 4205     See in Manteia.
OMIM - 600660
RefSeq - XM_017022202
RefSeq - XM_011521581
RefSeq - XM_011521582
RefSeq - XM_011521583
RefSeq - XM_011521585
RefSeq - XM_011521586
RefSeq - XM_011521587
RefSeq - XM_011521590
RefSeq - XM_017022190
RefSeq - XM_017022191
RefSeq - XM_017022192
RefSeq - XM_017022193
RefSeq - XM_017022194
RefSeq - XM_017022195
RefSeq - XM_017022196
RefSeq - XM_017022197
RefSeq - XM_017022198
RefSeq - XM_017022199
RefSeq - XM_017022200
RefSeq - XM_017022201
RefSeq - NM_001130926
RefSeq - NM_001130927
RefSeq - NM_001130928
RefSeq - NM_001171894
RefSeq - NM_001319206
RefSeq - NM_001352614
RefSeq - NM_001352616
RefSeq - NM_001352617
RefSeq - NM_001352618
RefSeq - NM_005587
RefSeq - XM_005254914
RefSeq - XM_005254915
RefSeq - XM_011521571
RefSeq - XM_011521572
RefSeq - XM_011521573
RefSeq - XM_011521576
RefSeq - XM_011521577
RefSeq - XM_011521578
RefSeq - XM_011521579
RefSeq Peptide - NP_001124400
RefSeq Peptide - NP_001339543
RefSeq Peptide - NP_001339544
RefSeq Peptide - NP_001339545
RefSeq Peptide - NP_001339546
RefSeq Peptide - NP_001339547
RefSeq Peptide - NP_005578
RefSeq Peptide - NP_001124398
RefSeq Peptide - NP_001124399
RefSeq Peptide - NP_001165365
RefSeq Peptide - NP_001306135
swissprot - A0A0S2Z4C8
swissprot - A0A0S2Z454
swissprot - H0YKY6
swissprot - H0YM62
swissprot - H0YNI2
swissprot - A0A0S2Z417
swissprot - A0A0S2Z4N0
swissprot - Q02078
Ensembl - ENSG00000068305
  
Related genetic diseases (OMIM): 608320 - {Coronary artery disease, autosomal dominant, 1}, 608320

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mef2aaENSDARG00000031756Danio rerio
 MEF2AENSGALG00000032366Gallus gallus
 Mef2aENSMUSG00000030557Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MEF2C / Q06413 / myocyte enhancer factor 2CENSG0000008118958
MEF2D / Q14814 / myocyte enhancer factor 2DENSG0000011660454
MEF2B / Q02080 / myocyte enhancer factor 2BENSG0000021399928
BORCS8-MEF2B / BORCS8-MEF2B readthroughENSG0000006448927


Protein motifs (from Interpro)
Interpro ID Name
 IPR002100  Transcription factor, MADS-box
 IPR022102  Holliday junction regulator protein family C-terminal
 IPR033896  MADS MEF2-like
 IPR036879  Transcription factor, MADS-box superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000002 mitochondrial genome maintenance ISS
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IDA
 biological_processGO:0000165 MAPK cascade IDA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0006915 apoptotic process IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0007507 heart development IEP
 biological_processGO:0007517 muscle organ development NAS
 biological_processGO:0010613 positive regulation of cardiac muscle hypertrophy IGI
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 biological_processGO:0048311 mitochondrion distribution ISS
 biological_processGO:0048813 dendrite morphogenesis ISS
 biological_processGO:0051149 positive regulation of muscle cell differentiation TAS
 biological_processGO:0055005 ventricular cardiac myofibril assembly ISS
 biological_processGO:0061337 cardiac conduction ISS
 biological_processGO:0070375 ERK5 cascade IMP
 biological_processGO:0071277 cellular response to calcium ion IDA
 cellular_componentGO:0000790 nuclear chromatin ISS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005667 transcription factor complex IDA
 cellular_componentGO:0005829 cytosol IDA
 molecular_functionGO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IDA
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0001085 RNA polymerase II transcription factor binding IPI
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003682 chromatin binding IDA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IDA
 molecular_functionGO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0019901 protein kinase binding IEA
 molecular_functionGO:0033613 activating transcription factor binding IPI
 molecular_functionGO:0035035 histone acetyltransferase binding IPI
 molecular_functionGO:0042826 histone deacetylase binding IPI
 molecular_functionGO:0043565 sequence-specific DNA binding IDA
 molecular_functionGO:0046332 SMAD binding IPI
 molecular_functionGO:0046982 protein heterodimerization activity IPI
 molecular_functionGO:0046983 protein dimerization activity IEA


Pathways (from Reactome)
Pathway description
ERK/MAPK targets
CDO in myogenesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000188130 MAPK12 / P53778 / mitogen-activated protein kinase 12  / reaction / complex
 ENSG00000112062 MAPK14 / Q16539 / mitogen-activated protein kinase 14  / complex / reaction
 ENSG00000166484 MAPK7 / Q13164 / mitogen-activated protein kinase 7  / reaction
 ENSG00000129152 MYOD1 / P15172 / myogenic differentiation 1  / reaction / complex
 ENSG00000111049 MYF5 / P13349 / myogenic factor 5  / complex / reaction
 ENSG00000071564 TCF3 / P15923 / transcription factor 3  / complex / reaction
 ENSG00000111046 MYF6 / P23409 / myogenic factor 6  / complex / reaction
 ENSG00000122180 MYOG / P15173 / myogenin  / complex / reaction
 ENSG00000185386 MAPK11 / Q15759 / mitogen-activated protein kinase 11  / reaction / complex






 

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