ENSMUSG00000030557


Mus musculus

Features
Gene ID: ENSMUSG00000030557
  
Biological name :Mef2a
  
Synonyms : Mef2a / Mus musculus myocyte enhancer factor 2A (Mef2a), transcript variant 7, mRNA. / Q60929
  
Possible biological names infered from orthology : myocyte enhancer factor 2A / Q02078
  
Species: Mus musculus
  
Chr. number: 7
Strand: -1
Band: C
Gene start: 67231163
Gene end: 67372858
  
Corresponding Affymetrix probe sets: 10564451 (MoGene1.0st)   1421252_a_at (Mouse Genome 430 2.0 Array)   1425426_a_at (Mouse Genome 430 2.0 Array)   1427185_at (Mouse Genome 430 2.0 Array)   1427186_a_at (Mouse Genome 430 2.0 Array)   1442623_at (Mouse Genome 430 2.0 Array)   1452347_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000138645
Ensembl peptide - ENSMUSP00000138566
Ensembl peptide - ENSMUSP00000146872
Ensembl peptide - ENSMUSP00000032776
Ensembl peptide - ENSMUSP00000075664
Ensembl peptide - ENSMUSP00000103100
Ensembl peptide - ENSMUSP00000116144
Ensembl peptide - ENSMUSP00000117496
NCBI entrez gene - 17258     See in Manteia.
MGI - MGI:99532
RefSeq - XM_017322011
RefSeq - NM_001033713
RefSeq - NM_001291191
RefSeq - NM_001291192
RefSeq - NM_001291195
RefSeq - NM_001291196
RefSeq - NM_001357325
RefSeq - XM_006540684
RefSeq - XM_006540685
RefSeq - XM_006540686
RefSeq - XM_011250814
RefSeq Peptide - NP_001344254
RefSeq Peptide - NP_001028885
RefSeq Peptide - NP_001278120
RefSeq Peptide - NP_001278121
RefSeq Peptide - NP_001278124
RefSeq Peptide - NP_001278125
swissprot - S4R2H4
swissprot - Q60929
swissprot - D3Z6M5
swissprot - A0A140LIL7
Ensembl - ENSMUSG00000030557
  

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


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mef2aaENSDARG00000031756Danio rerio
 MEF2AENSGALG00000032366Gallus gallus
 MEF2AENSG00000068305Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Mef2c / Q8CFN5 / Mus musculus myocyte enhancer factor 2C (Mef2c), transcript variant 14, mRNA. / Q06413* / myocyte enhancer factor 2C*ENSMUSG0000000558359
Mef2d / Q63943 / Myocyte-specific enhancer factor 2D / Q14814* / myocyte enhancer factor 2D*ENSMUSG0000000141954
Mef2b / myocyte enhancer factor 2B / Q02080*ENSMUSG0000007903327


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 IMP
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II ISS
 biological_processGO:0000165 MAPK cascade ISS
 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 IEA
 biological_processGO:0010613 positive regulation of cardiac muscle hypertrophy ISO
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IDA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0048311 mitochondrion distribution IMP
 biological_processGO:0055005 ventricular cardiac myofibril assembly IMP
 biological_processGO:0061337 cardiac conduction IMP
 biological_processGO:0070375 ERK5 cascade ISO
 biological_processGO:0071277 cellular response to calcium ion ISO
 cellular_componentGO:0000790 nuclear chromatin IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm ISO
 cellular_componentGO:0005667 transcription factor complex ISO
 cellular_componentGO:0005829 cytosol ISO
 molecular_functionGO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding ISO
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISO
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IC
 molecular_functionGO:0001085 RNA polymerase II transcription factor binding ISO
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003682 chromatin binding ISO
 molecular_functionGO:0003700 DNA-binding transcription factor activity ISO
 molecular_functionGO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0019901 protein kinase binding IPI
 molecular_functionGO:0033613 activating transcription factor binding IPI
 molecular_functionGO:0035035 histone acetyltransferase binding ISS
 molecular_functionGO:0042826 histone deacetylase binding ISO
 molecular_functionGO:0043565 sequence-specific DNA binding ISO
 molecular_functionGO:0046332 SMAD binding ISS
 molecular_functionGO:0046982 protein heterodimerization activity ISO
 molecular_functionGO:0046983 protein dimerization activity IEA


Pathways (from Reactome)
Pathway description
CDO in myogenesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000774 reduced brain size "smaller appearance of the brain" [J:35802]
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Allelic Composition: Mef2atm1.1Limm/Mef2atm1.1Limm,Mef2ctm2Eno/Mef2ctm2Eno,Mef2dtm3Eno/Mef2dtm3Eno,Tg(GFAP-cre)25Mes/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Mef2atm1.1Limm/Mef2atm1.1Limm,Mef2ctm2Eno/Mef2ctm2Eno,Mef2dtm3Eno/Mef2dtm3Eno,Tg(GFAP-cre)25Mes/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Mef2atm1.1Limm/Mef2atm1.1Limm,Mef2ctm2Eno/Mef2ctm2Eno,Mef2dtm3Eno/Mef2dtm3Eno,Tg(GFAP-cre)25Mes/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

 MP:0002082 postnatal lethality "premature death anytime after postnatal day 1 to weaning age (3 weeks)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Acvrl1tm1Spo/Acvrl1tm1Enl
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Acvrl1tm1Spo/Acvrl1tm1Enl
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Mef2atm1.1Limm/Mef2atm1.1Limm,Mef2ctm2Eno/Mef2ctm2Eno,Mef2dtm3Eno/Mef2dtm3Eno,Tg(GFAP-cre)25Mes/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Mef2atm1.1Limm/Mef2atm1.1Limm,Mef2dtm3Eno/Mef2dtm3Eno,Tg(GFAP-cre)25Mes/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

 MP:0002207 abnormal long term potentiation "alterations in a persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Mef2atm1.1Limm/Mef2atm1.1Limm,Mef2ctm2Eno/Mef2ctm2Eno,Mef2dtm3Eno/Mef2dtm3Eno,Tg(GFAP-cre)25Mes/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

 MP:0002754 dilated right ventricle "an expansion in the volume of the lower right chamber of the heart" [J:82859, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Acvrl1tm1Spo/Acvrl1tm1Enl
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002919 enhanced paired-pulse facilitation "increase in the response of central synapses when activated twice in rapid succession; indicative of defects in short-term plasticity due to greater increase of neurotransmitter release at the second stimulus" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Mef2atm1.1Limm/Mef2atm1.1Limm,Mef2ctm2Eno/Mef2ctm2Eno,Mef2dtm3Eno/Mef2dtm3Eno,Tg(GFAP-cre)25Mes/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

Allelic Composition: Mef2atm1.1Limm/Mef2atm1.1Limm,Mef2dtm3Eno/Mef2dtm3Eno,Tg(GFAP-cre)25Mes/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

 MP:0003203 increased neuron apoptosis "increase in the number of neurons undergoing programmed cell death" [RGD:Rat Genome Database submission]
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Allelic Composition: Mef2atm1.1Limm/Mef2atm1.1Limm,Mef2ctm2Eno/Mef2ctm2Eno,Mef2dtm3Eno/Mef2dtm3Eno,Tg(GFAP-cre)25Mes/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

 MP:0005333 decreased heart rate "fewer than average resting heart beats per minute" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:84764]
Show

Allelic Composition: Acvrl1tm1Spo/Acvrl1tm1Enl
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0011086 partial postnatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Acvrl1tm1Spo/Acvrl1tm1Enl
Genetic Background: involves: 129S4/SvJae * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000000435 Myf5 / P24699 / Myogenic factor 5 / P13349*  / complex / reaction
 ENSMUSG00000053436 Mapk14 / P47811 / Mitogen-activated protein kinase 14 / Q16539*  / complex / reaction
 ENSMUSG00000020167 Tcf3 / P15806 / Transcription factor E2-alpha / P15923* / transcription factor 3*  / reaction / complex
 ENSMUSG00000026459 Myog / P12979 / Myogenin / P15173*  / complex / reaction
 ENSMUSG00000035923 Myf6 / P15375 / Myogenic factor 6 / P23409*  / reaction / complex
 ENSMUSG00000009471 Myod1 / P10085 / Myoblast determination protein 1 / P15172* / myogenic differentiation 1*  / reaction / complex
 ENSMUSG00000022610 Mapk12 / O08911 / Mitogen-activated protein kinase 12 / P53778*  / complex / reaction
 ENSMUSG00000053137 Mapk11 / Q9WUI1 / Mitogen-activated protein kinase 11 / Q15759*  / reaction / complex






 

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