ENSG00000081189


Homo sapiens

Features
Gene ID: ENSG00000081189
  
Biological name :MEF2C
  
Synonyms : MEF2C / myocyte enhancer factor 2C / Q06413
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: -1
Band: q14.3
Gene start: 88717117
Gene end: 88904257
  
Corresponding Affymetrix probe sets: 207968_s_at (Human Genome U133 Plus 2.0 Array)   209199_s_at (Human Genome U133 Plus 2.0 Array)   209200_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000425636
Ensembl peptide - ENSP00000424606
Ensembl peptide - ENSP00000426442
Ensembl peptide - ENSP00000490630
Ensembl peptide - ENSP00000490525
Ensembl peptide - ENSP00000490473
Ensembl peptide - ENSP00000490354
Ensembl peptide - ENSP00000490241
Ensembl peptide - ENSP00000489865
Ensembl peptide - ENSP00000487538
Ensembl peptide - ENSP00000487437
Ensembl peptide - ENSP00000487430
Ensembl peptide - ENSP00000487311
Ensembl peptide - ENSP00000487184
Ensembl peptide - ENSP00000487157
Ensembl peptide - ENSP00000486932
Ensembl peptide - ENSP00000486554
Ensembl peptide - ENSP00000486490
Ensembl peptide - ENSP00000485972
Ensembl peptide - ENSP00000427309
Ensembl peptide - ENSP00000427286
Ensembl peptide - ENSP00000427163
Ensembl peptide - ENSP00000426665
Ensembl peptide - ENSP00000426465
Ensembl peptide - ENSP00000340874
Ensembl peptide - ENSP00000389610
Ensembl peptide - ENSP00000396219
Ensembl peptide - ENSP00000421925
Ensembl peptide - ENSP00000422390
Ensembl peptide - ENSP00000423597
Ensembl peptide - ENSP00000423656
Ensembl peptide - ENSP00000423826
Ensembl peptide - ENSP00000424331
NCBI entrez gene - 4208     See in Manteia.
OMIM - 600662
RefSeq - XM_017009483
RefSeq - NM_001131005
RefSeq - NM_001193347
RefSeq - NM_001193348
RefSeq - NM_001193349
RefSeq - NM_001193350
RefSeq - NM_001308002
RefSeq - NM_002397
RefSeq - XM_005248511
RefSeq - XM_006714619
RefSeq - XM_006714625
RefSeq - XM_011543396
RefSeq - XM_011543397
RefSeq - XM_011543400
RefSeq - XM_011543401
RefSeq - XM_017009475
RefSeq - XM_017009476
RefSeq - XM_017009477
RefSeq - XM_017009478
RefSeq - XM_017009479
RefSeq - XM_017009480
RefSeq - XM_017009481
RefSeq - XM_017009482
RefSeq Peptide - NP_001180278
RefSeq Peptide - NP_001180279
RefSeq Peptide - NP_001294931
RefSeq Peptide - NP_002388
RefSeq Peptide - NP_001124477
RefSeq Peptide - NP_001180276
RefSeq Peptide - NP_001180277
swissprot - A0A024RAL7
swissprot - D8L7E9
swissprot - D6RJG6
swissprot - D6RJA7
swissprot - D6RJ95
swissprot - D6RG21
swissprot - D6RG14
swissprot - D6RCM6
swissprot - D6RC63
swissprot - D6RB91
swissprot - D6R942
swissprot - A0A1B0GVI4
swissprot - A0A1B0GV32
swissprot - A0A1B0GTW4
swissprot - A0A0R4J2G5
swissprot - A0A0D9SGI5
swissprot - A0A0D9SGF3
swissprot - A0A0D9SG58
swissprot - A0A0D9SFV9
swissprot - A0A0D9SFD0
swissprot - Q06413
swissprot - A0A024RAL6
swissprot - A0A0D9SET2
Ensembl - ENSG00000081189
  
Related genetic diseases (OMIM): 613443 - Chromosome 5q14.3 deletion syndrome, 613443

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
 mef2cbENSDARG00000009418Danio rerio
 MEF2CENSGALG00000014645Gallus gallus
 Mef2cENSMUSG00000005583Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MEF2A / Q02078 / myocyte enhancer factor 2AENSG0000006830561
MEF2D / Q14814 / myocyte enhancer factor 2DENSG0000011660452
MEF2B / Q02080 / myocyte enhancer factor 2BENSG0000021399930
BORCS8-MEF2B / BORCS8-MEF2B readthroughENSG0000006448929


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:0000122 negative regulation of transcription by RNA polymerase II IMP
 biological_processGO:0000165 MAPK cascade IMP
 biological_processGO:0001568 blood vessel development ISS
 biological_processGO:0001649 osteoblast differentiation ISS
 biological_processGO:0001764 neuron migration ISS
 biological_processGO:0001782 B cell homeostasis ISS
 biological_processGO:0001947 heart looping ISS
 biological_processGO:0001958 endochondral ossification ISS
 biological_processGO:0001974 blood vessel remodeling ISS
 biological_processGO:0002062 chondrocyte differentiation ISS
 biological_processGO:0002467 germinal center formation ISS
 biological_processGO:0002634 regulation of germinal center formation ISS
 biological_processGO:0002931 response to ischemia ISS
 biological_processGO:0003138 primary heart field specification ISS
 biological_processGO:0003139 secondary heart field specification ISS
 biological_processGO:0003151 outflow tract morphogenesis ISS
 biological_processGO:0003185 sinoatrial valve morphogenesis ISS
 biological_processGO:0003211 cardiac ventricle formation 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:0006959 humoral immune response ISS
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007399 nervous system development TAS
 biological_processGO:0007507 heart development NAS
 biological_processGO:0007517 muscle organ development TAS
 biological_processGO:0007519 skeletal muscle tissue development ISS
 biological_processGO:0007521 muscle cell fate determination ISS
 biological_processGO:0007611 learning or memory ISS
 biological_processGO:0010628 positive regulation of gene expression IDA
 biological_processGO:0010629 negative regulation of gene expression ISS
 biological_processGO:0010694 positive regulation of alkaline phosphatase activity ISS
 biological_processGO:0014033 neural crest cell differentiation ISS
 biological_processGO:0014898 cardiac muscle hypertrophy in response to stress IEA
 biological_processGO:0014902 myotube differentiation IEP
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030182 neuron differentiation ISS
 biological_processGO:0030220 platelet formation ISS
 biological_processGO:0030224 monocyte differentiation IEA
 biological_processGO:0030279 negative regulation of ossification IDA
 biological_processGO:0030318 melanocyte differentiation ISS
 biological_processGO:0030501 positive regulation of bone mineralization ISS
 biological_processGO:0030890 positive regulation of B cell proliferation ISS
 biological_processGO:0035690 cellular response to drug ISS
 biological_processGO:0035914 skeletal muscle cell differentiation IEA
 biological_processGO:0035984 cellular response to trichostatin A ISS
 biological_processGO:0042100 B cell proliferation ISS
 biological_processGO:0043406 positive regulation of MAP kinase activity ISS
 biological_processGO:0043523 regulation of neuron apoptotic process ISS
 biological_processGO:0043524 negative regulation of neuron apoptotic process ISS
 biological_processGO:0043537 negative regulation of blood vessel endothelial cell migration IGI
 biological_processGO:0045165 cell fate commitment IEA
 biological_processGO:0045652 regulation of megakaryocyte differentiation ISS
 biological_processGO:0045663 positive regulation of myoblast differentiation IMP
 biological_processGO:0045666 positive regulation of neuron differentiation ISS
 biological_processGO:0045669 positive regulation of osteoblast differentiation ISS
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IDA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0046928 regulation of neurotransmitter secretion ISS
 biological_processGO:0048167 regulation of synaptic plasticity ISS
 biological_processGO:0048643 positive regulation of skeletal muscle tissue development IMP
 biological_processGO:0048666 neuron development ISS
 biological_processGO:0048667 cell morphogenesis involved in neuron differentiation ISS
 biological_processGO:0048703 embryonic viscerocranium morphogenesis IEA
 biological_processGO:0048704 embryonic skeletal system morphogenesis IEA
 biological_processGO:0050680 negative regulation of epithelial cell proliferation IEA
 biological_processGO:0050853 B cell receptor signaling pathway ISS
 biological_processGO:0051145 smooth muscle cell differentiation ISS
 biological_processGO:0051149 positive regulation of muscle cell differentiation TAS
 biological_processGO:0051963 regulation of synapse assembly ISS
 biological_processGO:0051966 regulation of synaptic transmission, glutamatergic ISS
 biological_processGO:0055007 cardiac muscle cell differentiation IEA
 biological_processGO:0055012 ventricular cardiac muscle cell differentiation ISS
 biological_processGO:0060021 roof of mouth development IEA
 biological_processGO:0060025 regulation of synaptic activity ISS
 biological_processGO:0060045 positive regulation of cardiac muscle cell proliferation ISS
 biological_processGO:0060079 excitatory postsynaptic potential ISS
 biological_processGO:0060297 regulation of sarcomere organization IEA
 biological_processGO:0060536 cartilage morphogenesis IEA
 biological_processGO:0060998 regulation of dendritic spine development ISS
 biological_processGO:0061333 renal tubule morphogenesis ISS
 biological_processGO:0071222 cellular response to lipopolysaccharide ISS
 biological_processGO:0071277 cellular response to calcium ion ISS
 biological_processGO:0071374 cellular response to parathyroid hormone stimulus IDA
 biological_processGO:0071498 cellular response to fluid shear stress ISS
 biological_processGO:0071560 cellular response to transforming growth factor beta stimulus IDA
 biological_processGO:0071864 positive regulation of cell proliferation in bone marrow IEA
 biological_processGO:0072102 glomerulus morphogenesis ISS
 biological_processGO:0072160 nephron tubule epithelial cell differentiation ISS
 biological_processGO:0090073 positive regulation of protein homodimerization activity ISS
 biological_processGO:1904706 negative regulation of vascular smooth muscle cell proliferation IGI
 biological_processGO:1904753 negative regulation of vascular associated smooth muscle cell migration IGI
 biological_processGO:1905563 negative regulation of vascular endothelial cell proliferation IGI
 biological_processGO:2000111 positive regulation of macrophage apoptotic process ISS
 biological_processGO:2000310 regulation of NMDA receptor activity ISS
 biological_processGO:2000311 regulation of AMPA receptor activity ISS
 biological_processGO:2000727 positive regulation of cardiac muscle cell differentiation IDA
 biological_processGO:2000987 positive regulation of behavioral fear response ISS
 biological_processGO:2001013 epithelial cell proliferation involved in renal tubule morphogenesis ISS
 biological_processGO:2001016 positive regulation of skeletal muscle cell differentiation IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol ISS
 cellular_componentGO:0016528 sarcoplasm IEA
 cellular_componentGO:0016607 nuclear speck IDA
 cellular_componentGO:0032991 protein-containing complex IDA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 cellular_componentGO:0098794 postsynapse IEA
 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 IEA
 molecular_functionGO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISS
 molecular_functionGO:0000983 transcription factor activity, RNA polymerase II core promoter sequence-specific DNA binding IDA
 molecular_functionGO:0000987 proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0001046 core promoter sequence-specific DNA binding IEA
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0001205 transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific DNA binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003680 AT DNA binding IDA
 molecular_functionGO:0003682 chromatin binding IEA
 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:0033613 activating transcription factor binding IPI
 molecular_functionGO:0042826 histone deacetylase binding IEA
 molecular_functionGO:0043565 sequence-specific DNA binding IEA
 molecular_functionGO:0044212 transcription regulatory region DNA binding ISS
 molecular_functionGO:0046982 protein heterodimerization activity IPI
 molecular_functionGO:0046983 protein dimerization activity IEA
 molecular_functionGO:0071837 HMG box domain binding IEA


Pathways (from Reactome)
Pathway description
ERK/MAPK targets
Transcriptional activation of mitochondrial biogenesis
CDO in myogenesis
Circadian Clock


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
Show

 HP:0000194 Open mouth 
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 HP:0000316 Hypertelorism 
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 HP:0000322 Short philtrum 
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 HP:0000331 Small chin 
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 HP:0000337 Broad forehead "Abnormally large side-to-side distance of the forehead." [HPO:curators]
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 HP:0000348 High forehead "An abnormally increased height of the forehead." [HPO:curators]
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 HP:0000369 Low-set ears "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators]
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 HP:0000463 Nares, anteverted "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422]
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 HP:0000486 Strabismus "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators]
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 HP:0000490 Deep set eyes 
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 HP:0000574 Thick eyebrows 
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 HP:0000582 Upslanting palpebral fissures 
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 HP:0000609 Optic nerve hypoplasia 
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 HP:0000729 Pervasive developmental disorder 
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 HP:0000733 Stereotyped, repetitive behaviour 
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 HP:0000750 Impaired language development 
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 HP:0000817 Poor eye contact 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001252 Muscular hypotonia "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators]
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 HP:0001270 Motor retardation 
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001770 Toe syndactyly "Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators]
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 HP:0002079 Hypoplasia of the corpus callosum "Underdevelopment of the corpus callosum." [HPO:curators]
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 HP:0002119 Ventriculomegaly 
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 HP:0002335 Agenesis of cerebellar vermis 
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 HP:0002518 Periventricular white matter changes 
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 HP:0002540 Inability to walk 
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 HP:0002714 Downturned corners of mouth "A morphological `abnormality of the mouth` (HP:0000153) in which the `angle of the mouth` (FMA:77269) is downturned." [HPO:probinson]
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 HP:0003196 Nasal hypoplasia "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson]
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 HP:0003745 Sporadic 
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 HP:0005280 Depressed nasal root and bridge 
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 HP:0006913 Frontal cortical atophy 
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 HP:0010864 Mental retardation, severe "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [HPO:probinson]
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 HP:0011968 Feeding difficulties "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs]
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 HP:0200134 Epileptic encephalopathy 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000188130 MAPK12 / P53778 / mitogen-activated protein kinase 12  / complex / reaction
 ENSG00000112062 MAPK14 / Q16539 / mitogen-activated protein kinase 14  / reaction / complex
 ENSG00000109819 Q9UBK2 / PPARGC1A / PPARG coactivator 1 alpha  / complex
 ENSG00000166484 MAPK7 / Q13164 / mitogen-activated protein kinase 7  / reaction
 ENSG00000111046 MYF6 / P23409 / myogenic factor 6  / reaction / complex
 ENSG00000122180 MYOG / P15173 / myogenin  / complex / reaction
 ENSG00000129152 MYOD1 / P15172 / myogenic differentiation 1  / reaction / complex
 ENSG00000071564 TCF3 / P15923 / transcription factor 3  / complex / reaction
 ENSG00000111049 MYF5 / P13349 / myogenic factor 5  / reaction / complex
 ENSG00000185386 MAPK11 / Q15759 / mitogen-activated protein kinase 11  / reaction / complex






 

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