ENSMUSG00000001419


Mus musculus

Features
Gene ID: ENSMUSG00000001419
  
Biological name :Mef2d
  
Synonyms : Mef2d / Myocyte-specific enhancer factor 2D / Q63943
  
Possible biological names infered from orthology : myocyte enhancer factor 2D / Q14814
  
Species: Mus musculus
  
Chr. number: 3
Strand: 1
Band: F1
Gene start: 88142372
Gene end: 88172086
  
Corresponding Affymetrix probe sets: 10493177 (MoGene1.0st)   10493189 (MoGene1.0st)   1421388_at (Mouse Genome 430 2.0 Array)   1434487_at (Mouse Genome 430 2.0 Array)   1437300_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000113638
Ensembl peptide - ENSMUSP00000001455
Ensembl peptide - ENSMUSP00000103183
Ensembl peptide - ENSMUSP00000103184
NCBI entrez gene - 17261     See in Manteia.
MGI - MGI:99533
RefSeq - XM_017319473
RefSeq - NM_133665
RefSeq - XM_006501089
RefSeq - XM_006501090
RefSeq - XM_011240032
RefSeq - XM_011240033
RefSeq - XM_011240034
RefSeq - XM_017319472
RefSeq - NM_001310587
RefSeq - NM_001310593
RefSeq Peptide - NP_001297516
RefSeq Peptide - NP_001297522
RefSeq Peptide - NP_598426
swissprot - E9QKT0
swissprot - E9Q5E0
swissprot - Q63943
swissprot - Q921S6
Ensembl - ENSMUSG00000001419
  

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
 mef2dENSDARG00000040237Danio rerio
 MEF2DENSGALG00000037787Gallus gallus
 MEF2DENSG00000116604Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Mef2a / Q60929 / Mus musculus myocyte enhancer factor 2A (Mef2a), transcript variant 7, mRNA. / Q02078* / myocyte enhancer factor 2A*ENSMUSG0000003055752
Mef2c / Q8CFN5 / Mus musculus myocyte enhancer factor 2C (Mef2c), transcript variant 14, mRNA. / Q06413* / myocyte enhancer factor 2C*ENSMUSG0000000558350
Mef2b / myocyte enhancer factor 2B / Q02080*ENSMUSG0000007903326


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:0001649 osteoblast differentiation IGI
 biological_processGO:0001958 endochondral ossification IGI
 biological_processGO:0002062 chondrocyte differentiation IGI
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IDA
 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:0007512 adult heart development IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0035914 skeletal muscle cell differentiation IMP
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IDA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II ISO
 biological_processGO:1904707 positive regulation of vascular smooth muscle cell proliferation IEA
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 molecular_functionGO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding ISO
 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 IEA
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0003677 DNA binding IDA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0033613 activating transcription factor binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IPI
 molecular_functionGO:0042826 histone deacetylase binding IEA
 molecular_functionGO:0046982 protein heterodimerization activity IPI
 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:0000266 abnormal cardiac morphology "anomalies in the hollow, muscular organ that maintains the circulation of the blood" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Ifnar1tm1Agt/Ifnar1tm1Agt,Slamf1tm1Oono/Slamf1tm1Oono
Genetic Background: B6.129-Slamf1tm1Oono Ifnar1tm1Agt

 MP:0000278 abnormal myocardial fiber morphology "malformed or poorly developed cardiac muscle fibers, the multinucleated muscle cells of the heart" [J:18048]
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Allelic Composition: Ifnar1tm1Agt/Ifnar1tm1Agt,Slamf1tm1Oono/Slamf1tm1Oono
Genetic Background: B6.129-Slamf1tm1Oono Ifnar1tm1Agt

 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:0001004 abnormal photoreceptor morphology "structural or developmental anomaly of the receptors sensitive to light " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Crxtm1Clc/Crxtm1Clc,Mef2dtm1.2Tfur/Mef2dtm1.2Tfur
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

 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: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: Vkorc1tm1.1Jobg/Vkorc1tm1.1Jobg
Genetic Background: involves: 129S4/SvJae * BALB/cJ * C57BL/6

 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: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:0003731 abnormal outer nuclear layer morphology "malformation/anomalous structure of the retinal layer that contains the nuclei and cell bodies of rods and cones" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Pgrmc1tm1.1Jjp/Pgrmc1tm1.1Jjp,Omptm1(cre)Jae/Omp+
Genetic Background: involves: 129S1/Sv

 MP:0003732 abnormal outer plexiform layer morphology "malformation/anomalous structure of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites)" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Pgrmc1tm1.1Jjp/Pgrmc1tm1.1Jjp,Omptm1(cre)Jae/Omp+
Genetic Background: involves: 129S1/Sv

Allelic Composition: Crxtm1Clc/Crxtm1Clc,Mef2dtm1.2Tfur/Mef2dtm1.2Tfur
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

 MP:0005140 decreased cardiac muscle contractility "inability or reduced ability of the heart muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ifnar1tm1Agt/Ifnar1tm1Agt,Slamf1tm1Oono/Slamf1tm1Oono
Genetic Background: B6.129-Slamf1tm1Oono Ifnar1tm1Agt

 MP:0005406 abnormal heart size "change from the norm in the physical magnitude of the cardiac muscle or any of its component structures" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ifnar1tm1Agt/Ifnar1tm1Agt,Slamf1tm1Oono/Slamf1tm1Oono
Genetic Background: B6.129-Slamf1tm1Oono Ifnar1tm1Agt

 MP:0006068 abnormal horizontal cell morphology "anomalous structure of the laterally interconnecting neurons in the outer plexiform layer" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Pgrmc1tm1.1Jjp/Pgrmc1tm1.1Jjp,Omptm1(cre)Jae/Omp+
Genetic Background: involves: 129S1/Sv

 MP:0006073 abnormal retinal bipolar cell morphology "anomalous structure of the cells that transmit signals from the photoreceptors to retinal amacrine and ganglion cells" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:92623:]
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Allelic Composition: Pgrmc1tm1.1Jjp/Pgrmc1tm1.1Jjp,Omptm1(cre)Jae/Omp+
Genetic Background: involves: 129S1/Sv

Allelic Composition: Crxtm1Clc/Crxtm1Clc,Mef2dtm1.2Tfur/Mef2dtm1.2Tfur
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

 MP:0006075 abnormal retinal cone bipolar cell morphology "anomalous structure of the retinal bipolar cells that connect to both ganglion and amacrine cells" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:92623]
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Allelic Composition: Pgrmc1tm1.1Jjp/Pgrmc1tm1.1Jjp,Omptm1(cre)Jae/Omp+
Genetic Background: involves: 129S1/Sv

 MP:0008275 failure of endochondral bone ossification "failure to initiate or a block in the process of the formation of bone by the replacement of cartilage tissue with mineralized bone" [GO:0001958]
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Allelic Composition: Mef2ctm2Eno/Mef2ctm2Eno,Mef2dtm1Eno/Mef2dtm1Eno,Tg(Col2a1-cre)1Bhr/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

 MP:0008278 failure of sternum ossification "failure to initiate or a block in the process of the formation of the sternum bone by the replacement of cartilage tissue with mineralized bone" [GO:0001958, MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Mef2ctm1Eno/Mef2c+,Mef2dtm1.1Eno/Mef2d+
Genetic Background: involves: 129S7/SvEvBrd

 MP:0008446 decreased retinal cone cell number "reduced number of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment" [MESH:A08.663.650.650.670.100, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pgrmc1tm1.1Jjp/Pgrmc1tm1.1Jjp,Omptm1(cre)Jae/Omp+
Genetic Background: involves: 129S1/Sv

 MP:0008449 abnormal retinal cone cell outer segment morphology "any structural anomaly of the retinal cone cell region in which the visual pigment rhodopsin is in invaginations of the cell membrane" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pgrmc1tm1.1Jjp/Pgrmc1tm1.1Jjp,Omptm1(cre)Jae/Omp+
Genetic Background: involves: 129S1/Sv

 MP:0008450 retinal photoreceptor degeneration "a retrogressive impairment of function or destruction of a cell specialized to detect and transduce light, including rods and cones of the retina" [MESH:A08.663.650.650, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pgrmc1tm1.1Jjp/Pgrmc1tm1.1Jjp,Omptm1(cre)Jae/Omp+
Genetic Background: involves: 129S1/Sv

 MP:0008453 decreased retinal rod cell number "reduced number of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane" [MESH:A08.663.650.650.670.650]
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Allelic Composition: Pgrmc1tm1.1Jjp/Pgrmc1tm1.1Jjp,Omptm1(cre)Jae/Omp+
Genetic Background: involves: 129S1/Sv

 MP:0008456 abnormal retinal rod cell outer segment morphology "any strucutral anomaly of the retinal rod cell region which contains stacks of membranous discs separate from the outer cell membrane that are rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pgrmc1tm1.1Jjp/Pgrmc1tm1.1Jjp,Omptm1(cre)Jae/Omp+
Genetic Background: involves: 129S1/Sv

 MP:0008515 thin retinal outer nuclear layer "reduced thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Pgrmc1tm1.1Jjp/Pgrmc1tm1.1Jjp,Omptm1(cre)Jae/Omp+
Genetic Background: involves: 129S1/Sv

 MP:0008518 retinal outer nuclear layer degeneration "a retrogressive impairment or destruction of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Pgrmc1tm1.1Jjp/Pgrmc1tm1.1Jjp,Omptm1(cre)Jae/Omp+
Genetic Background: involves: 129S1/Sv

 MP:0008583 absent photoreceptor inner segment "absence of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Crxtm1Clc/Crxtm1Clc,Mef2dtm1.2Tfur/Mef2dtm1.2Tfur
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

 MP:0008587 short photoreceptor outer segment "decreased length of the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pgrmc1tm1.1Jjp/Pgrmc1tm1.1Jjp,Omptm1(cre)Jae/Omp+
Genetic Background: involves: 129S1/Sv

 MP:0009409 abnormal skeletal muscle fiber type ratio "deviation from the standard ratios of fiber types in a given skeletal muscle compared to control samples" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Hdac4tm1Eno/Hdac4+,Hdac5tm1Eno/Hdac5tm1Eno,Hdac9tm1Eno/Hdac9+
Genetic Background: involves: 129 * 129S1/Sv * 129S2/SvPas * 129X1/SvJ

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
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Allelic Composition: Mef2ctm1Eno/Mef2c+,Mef2dtm1.1Eno/Mef2d+
Genetic Background: involves: 129S7/SvEvBrd

 MP:0012029 abnormal electroretinogram waveform feature "any anomaly in the pattern of the graphic record of the integrated ensemble response from many vision related neuronal and glial populations as a consequence of the serial processing within the retina, represented as changes in voltage over time after visual photonic stimulation" [MGI:csmith]
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Allelic Composition: Pgrmc1tm1.1Jjp/Pgrmc1tm1.1Jjp,Omptm1(cre)Jae/Omp+
Genetic Background: involves: 129S1/Sv

 MP:0012143 decreased a wave amplitude "reduction in the size (height or maximum displacement) of the a wave as measured in the electroretinogram" [MGI:csmith]
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Allelic Composition: Pgrmc1tm1.1Jjp/Pgrmc1tm1.1Jjp,Omptm1(cre)Jae/Omp+
Genetic Background: involves: 129S1/Sv

 MP:0012144 decreased b wave amplitude "reduction in the size (height or maximum displacement) of the b wave as measured in the electroretinogram" [MGI:csmith]
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Allelic Composition: Pgrmc1tm1.1Jjp/Pgrmc1tm1.1Jjp,Omptm1(cre)Jae/Omp+
Genetic Background: involves: 129S1/Sv

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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