Functions and Diseases

RBP Type Non-canonical_RBPs
Diseases Disease
Drug N.A.
Main interacting RNAs N.A.
Moonlighting functions TF
Localizations N.A.
BulkPerturb-seq

Description

Ensembl ID ENSG00000081189 Gene ID 4208 Accession 6996
Symbol MEF2C Alias NEDHSIL;DEL5q14.3;C5DELq14.3 Full Name myocyte enhancer factor 2C
Status Confidence Length 187141 bases Strand Minus strand
Position 5 : 88717117 - 88904257 RNA binding domain N.A.
Summary This locus encodes a member of the MADS box transcription enhancer factor 2 (MEF2) family of proteins, which play a role in myogenesis. The encoded protein, MEF2 polypeptide C, has both trans-activating and DNA binding activities. This protein may play a role in maintaining the differentiated state of muscle cells. Mutations and deletions at this locus have been associated with severe cognitive disability, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]

RNA binding domains (RBDs)

Protein Domain Pfam ID E-value Domain number

RNA binding proteomes (RBPomes)

Pubmed ID Full Name Cell Author Time Doi

Literatures on RNA binding capacity

Pubmed ID Title Author Time Journal
24891619 RNA-binding protein AUF1 promotes myogenesis by regulating MEF2C expression levels. C Amaresh Panda 2014-08-01 Molecular and cellular biology

Transcripts

Name Transcript ID bp Protein Translation ID
MEF2C-209 ENST00000504921 7281 473aa ENSP00000421925
MEF2C-201 ENST00000340208 6192 483aa ENSP00000340874
MEF2C-202 ENST00000424173 6336 463aa ENSP00000389610
MEF2C-257 ENST00000707127 5703 347aa ENSP00000516755
MEF2C-249 ENST00000637481 6088 462aa ENSP00000490354
MEF2C-244 ENST00000636998 5936 441aa ENSP00000490630
MEF2C-226 ENST00000625674 4343 463aa ENSP00000487430
MEF2C-203 ENST00000437473 4340 473aa ENSP00000396219
MEF2C-225 ENST00000625585 3467 471aa ENSP00000487538
MEF2C-222 ENST00000514028 3393 441aa ENSP00000426665
MEF2C-217 ENST00000510942 3446 433aa ENSP00000422390
MEF2C-210 ENST00000506554 3469 399aa ENSP00000425636
MEF2C-254 ENST00000637732 3347 441aa ENSP00000490241
MEF2C-221 ENST00000514015 2772 441aa ENSP00000424606
MEF2C-232 ENST00000629612 2851 465aa ENSP00000486554
MEF2C-238 ENST00000636143 2247 No protein -
MEF2C-239 ENST00000636294 2576 473aa ENSP00000490473
MEF2C-229 ENST00000627659 2393 431aa ENSP00000486490
MEF2C-213 ENST00000508569 1882 465aa ENSP00000423597
MEF2C-228 ENST00000627170 722 151aa ENSP00000487157
MEF2C-230 ENST00000627717 815 183aa ENSP00000486932
MEF2C-207 ENST00000503554 1345 327aa ENSP00000487437
MEF2C-227 ENST00000626391 1182 393aa ENSP00000487184
MEF2C-231 ENST00000628656 1254 417aa ENSP00000487311
MEF2C-218 ENST00000510980 527 No protein -
MEF2C-224 ENST00000515715 520 No protein -
MEF2C-220 ENST00000513252 1063 242aa ENSP00000423826
MEF2C-211 ENST00000506716 854 227aa ENSP00000423656
MEF2C-253 ENST00000637664 100 No protein -
MEF2C-234 ENST00000631026 914 205aa ENSP00000485972
MEF2C-204 ENST00000502831 851 194aa ENSP00000427286
MEF2C-212 ENST00000507984 623 120aa ENSP00000424331
MEF2C-205 ENST00000502983 609 129aa ENSP00000427163
MEF2C-214 ENST00000508610 557 126aa ENSP00000426442
MEF2C-243 ENST00000636541 527 123aa ENSP00000489865
MEF2C-248 ENST00000637372 140 No protein -
MEF2C-242 ENST00000636517 100 No protein -
MEF2C-206 ENST00000503075 773 87aa ENSP00000426465
MEF2C-250 ENST00000637506 100 No protein -
MEF2C-255 ENST00000637754 100 No protein -
MEF2C-251 ENST00000637531 100 No protein -
MEF2C-219 ENST00000511086 689 No protein -
MEF2C-236 ENST00000635898 125 42aa ENSP00000490525
MEF2C-216 ENST00000509373 573 28aa ENSP00000427309
MEF2C-223 ENST00000515093 503 No protein -
MEF2C-215 ENST00000509349 582 No protein -
MEF2C-240 ENST00000636336 100 No protein -
MEF2C-245 ENST00000637048 100 No protein -
MEF2C-256 ENST00000637801 100 No protein -
MEF2C-233 ENST00000629847 421 No protein -
MEF2C-252 ENST00000637663 432 No protein -
MEF2C-237 ENST00000636061 100 No protein -
MEF2C-235 ENST00000635837 160 No protein -
MEF2C-208 ENST00000503955 344 No protein -
MEF2C-247 ENST00000637231 100 No protein -
MEF2C-241 ENST00000636349 100 No protein -
MEF2C-246 ENST00000637167 100 No protein -

Gene Model

Pathways

Pathway ID Pathway Name Source

Phenotypes

ensgID Trait pValue Pubmed ID
10266Pulse6.01576863179328E-917903302
10375Cardiomegaly3.45316845810423E-717903306
22329Body Mass Index7.1220000E-005-
23899Obesity7.6050000E-005-
33776Glomerular Filtration Rate5.8321848E-005-
43362Platelet Function Tests1.3968312E-006-
43363Platelet Function Tests1.1795358E-006-
43365Platelet Function Tests1.3968312E-006-
43373Platelet Function Tests1.3968312E-006-
45552Platelet Function Tests2.8981070E-006-
45553Platelet Function Tests2.6091093E-006-
45554Platelet Function Tests2.8981070E-006-
45564Platelet Function Tests2.8981070E-006-
65111Education3E-827225129
74033Mean Platelet Volume2E-922139419
76616Hydrochlorothiazide5E-723400010
76618Triglycerides5E-723400010
86523Platelet Count1E-922139419
93676Vascular Endothelial Growth Factors1E-1126910538
102838Blood Pressure3E-617903302
106942Bone Density9E-923572186

GWAS

ensgIDSNPChromosomePosition TraitPubmedIDOr or BEAT EFO ID

Protein-Protein Interaction (PPI)

Paralogs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Orthologs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Gene Ontology

Go ID Go term No. evidence Entries Species Category
GO:0000122involved_in negative regulation of transcription by RNA polymerase II1IMPHomo_sapiens(9606)Process
GO:0000165involved_in MAPK cascade2IDA,IMPHomo_sapiens(9606)Process
GO:0000785part_of chromatin1ISAHomo_sapiens(9606)Component
GO:0000976enables transcription cis-regulatory region binding1ISSHomo_sapiens(9606)Function
GO:0000977enables RNA polymerase II transcription regulatory region sequence-specific DNA binding1IDAHomo_sapiens(9606)Function
GO:0000978enables RNA polymerase II cis-regulatory region sequence-specific DNA binding1IBAHomo_sapiens(9606)Function
GO:0000981enables DNA-binding transcription factor activity, RNA polymerase II-specific4IBA,IDA,ISA,ISSHomo_sapiens(9606)Function
GO:0001228enables DNA-binding transcription activator activity, RNA polymerase II-specific1IDAHomo_sapiens(9606)Function
GO:0001568involved_in blood vessel development1ISSHomo_sapiens(9606)Process
GO:0001649involved_in osteoblast differentiation1ISSHomo_sapiens(9606)Process
GO:0001764involved_in neuron migration1ISSHomo_sapiens(9606)Process
GO:0001782involved_in B cell homeostasis1ISSHomo_sapiens(9606)Process
GO:0001947involved_in heart looping1ISSHomo_sapiens(9606)Process
GO:0001958involved_in endochondral ossification1ISSHomo_sapiens(9606)Process
GO:0001974involved_in blood vessel remodeling1ISSHomo_sapiens(9606)Process
GO:0002062involved_in chondrocyte differentiation1ISSHomo_sapiens(9606)Process
GO:0002467involved_in germinal center formation1ISSHomo_sapiens(9606)Process
GO:0002634involved_in regulation of germinal center formation1ISSHomo_sapiens(9606)Process
GO:0002931involved_in response to ischemia1ISSHomo_sapiens(9606)Process
GO:0003138involved_in primary heart field specification1ISSHomo_sapiens(9606)Process
GO:0003139involved_in secondary heart field specification1ISSHomo_sapiens(9606)Process
GO:0003151involved_in outflow tract morphogenesis1ISSHomo_sapiens(9606)Process
GO:0003185involved_in sinoatrial valve morphogenesis1ISSHomo_sapiens(9606)Process
GO:0003211involved_in cardiac ventricle formation1ISSHomo_sapiens(9606)Process
GO:0003680enables minor groove of adenine-thymine-rich DNA binding1IDAHomo_sapiens(9606)Function
GO:0003700enables DNA-binding transcription factor activity1IDAHomo_sapiens(9606)Function
GO:0005515enables protein binding1IPIHomo_sapiens(9606)Function
GO:0005634located_in nucleus1IDAHomo_sapiens(9606)Component
GO:0005654located_in nucleoplasm2IDA,TASHomo_sapiens(9606)Component
GO:0005737located_in cytoplasm1IDAHomo_sapiens(9606)Component
GO:0005829located_in cytosol1ISSHomo_sapiens(9606)Component
GO:0006355involved_in regulation of DNA-templated transcription1IDAHomo_sapiens(9606)Process
GO:0006915involved_in apoptotic process1IEAHomo_sapiens(9606)Process
GO:0006959involved_in humoral immune response1ISSHomo_sapiens(9606)Process
GO:0007399involved_in nervous system development1TASHomo_sapiens(9606)Process
GO:0007507involved_in heart development4IBA,IEP,ISS,NASHomo_sapiens(9606)Process
GO:0007517involved_in muscle organ development1TASHomo_sapiens(9606)Process
GO:0007519involved_in skeletal muscle tissue development1ISSHomo_sapiens(9606)Process
GO:0007521involved_in muscle cell fate determination1ISSHomo_sapiens(9606)Process
GO:0007611involved_in learning or memory1ISSHomo_sapiens(9606)Process
GO:0010628involved_in positive regulation of gene expression1IDAHomo_sapiens(9606)Process
GO:0010629involved_in negative regulation of gene expression1ISSHomo_sapiens(9606)Process
GO:0010694involved_in positive regulation of alkaline phosphatase activity1ISSHomo_sapiens(9606)Process
GO:0014033involved_in neural crest cell differentiation1ISSHomo_sapiens(9606)Process
GO:0014902involved_in myotube differentiation1IEPHomo_sapiens(9606)Process
GO:0016528located_in sarcoplasm1IEAHomo_sapiens(9606)Component
GO:0016607located_in nuclear speck1IDAHomo_sapiens(9606)Component
GO:0030154involved_in cell differentiation1IBAHomo_sapiens(9606)Process
GO:0030182involved_in neuron differentiation2IEP,ISSHomo_sapiens(9606)Process
GO:0030220involved_in platelet formation1ISSHomo_sapiens(9606)Process
GO:0030279involved_in negative regulation of ossification1IDAHomo_sapiens(9606)Process
GO:0030318involved_in melanocyte differentiation1ISSHomo_sapiens(9606)Process
GO:0030501involved_in positive regulation of bone mineralization1ISSHomo_sapiens(9606)Process
GO:0030890involved_in positive regulation of B cell proliferation1ISSHomo_sapiens(9606)Process
GO:0032991part_of protein-containing complex1IDAHomo_sapiens(9606)Component
GO:0035984involved_in cellular response to trichostatin A1ISSHomo_sapiens(9606)Process
GO:0042100involved_in B cell proliferation1ISSHomo_sapiens(9606)Process
GO:0042826enables histone deacetylase binding1IBAHomo_sapiens(9606)Function
GO:0043231located_in intracellular membrane-bounded organelle1IDAHomo_sapiens(9606)Component
GO:0043406involved_in positive regulation of MAP kinase activity1ISSHomo_sapiens(9606)Process
GO:0043523involved_in regulation of neuron apoptotic process1ISSHomo_sapiens(9606)Process
GO:0043524involved_in negative regulation of neuron apoptotic process1ISSHomo_sapiens(9606)Process
GO:0043537involved_in negative regulation of blood vessel endothelial cell migration1IGIHomo_sapiens(9606)Process
GO:0045652involved_in regulation of megakaryocyte differentiation1ISSHomo_sapiens(9606)Process
GO:0045663involved_in positive regulation of myoblast differentiation1IMPHomo_sapiens(9606)Process
GO:0045666involved_in positive regulation of neuron differentiation1ISSHomo_sapiens(9606)Process
GO:0045669involved_in positive regulation of osteoblast differentiation1ISSHomo_sapiens(9606)Process
GO:0045893involved_in positive regulation of DNA-templated transcription1IDAHomo_sapiens(9606)Process
GO:0045944involved_in positive regulation of transcription by RNA polymerase II3IBA,IDA,IMPHomo_sapiens(9606)Process
GO:0046928involved_in regulation of neurotransmitter secretion1ISSHomo_sapiens(9606)Process
GO:0046982enables protein heterodimerization activity1IPIHomo_sapiens(9606)Function
GO:0048167involved_in regulation of synaptic plasticity1ISSHomo_sapiens(9606)Process
GO:0048643involved_in positive regulation of skeletal muscle tissue development1IMPHomo_sapiens(9606)Process
GO:0048666involved_in neuron development1ISSHomo_sapiens(9606)Process
GO:0048667involved_in cell morphogenesis involved in neuron differentiation1ISSHomo_sapiens(9606)Process
GO:0050853involved_in B cell receptor signaling pathway1ISSHomo_sapiens(9606)Process
GO:0051145involved_in smooth muscle cell differentiation1ISSHomo_sapiens(9606)Process
GO:0051963involved_in regulation of synapse assembly1ISSHomo_sapiens(9606)Process
GO:0051966involved_in regulation of synaptic transmission, glutamatergic1ISSHomo_sapiens(9606)Process
GO:0055012involved_in ventricular cardiac muscle cell differentiation1ISSHomo_sapiens(9606)Process
GO:0060025involved_in regulation of synaptic activity1ISSHomo_sapiens(9606)Process
GO:0060045involved_in positive regulation of cardiac muscle cell proliferation1ISSHomo_sapiens(9606)Process
GO:0060079involved_in excitatory postsynaptic potential1ISSHomo_sapiens(9606)Process
GO:0060998involved_in regulation of dendritic spine development1ISSHomo_sapiens(9606)Process
GO:0061333involved_in renal tubule morphogenesis1ISSHomo_sapiens(9606)Process
GO:0061629enables RNA polymerase II-specific DNA-binding transcription factor binding1IPIHomo_sapiens(9606)Function
GO:0071222involved_in cellular response to lipopolysaccharide1ISSHomo_sapiens(9606)Process
GO:0071277involved_in cellular response to calcium ion1ISSHomo_sapiens(9606)Process
GO:0071374involved_in cellular response to parathyroid hormone stimulus1IDAHomo_sapiens(9606)Process
GO:0071466involved_in cellular response to xenobiotic stimulus1ISSHomo_sapiens(9606)Process
GO:0071498involved_in cellular response to fluid shear stress1ISSHomo_sapiens(9606)Process
GO:0071560involved_in cellular response to transforming growth factor beta stimulus1IDAHomo_sapiens(9606)Process
GO:0072102involved_in glomerulus morphogenesis1ISSHomo_sapiens(9606)Process
GO:0072160involved_in nephron tubule epithelial cell differentiation1ISSHomo_sapiens(9606)Process
GO:0098794located_in postsynapse1IEAHomo_sapiens(9606)Component
GO:0140297enables DNA-binding transcription factor binding1IPIHomo_sapiens(9606)Function
GO:1904706involved_in negative regulation of vascular associated smooth muscle cell proliferation2IDA,IGIHomo_sapiens(9606)Process
GO:1904753involved_in negative regulation of vascular associated smooth muscle cell migration2IDA,IGIHomo_sapiens(9606)Process
GO:1905563involved_in negative regulation of vascular endothelial cell proliferation1IGIHomo_sapiens(9606)Process
GO:1990837enables sequence-specific double-stranded DNA binding1IDAHomo_sapiens(9606)Function
GO:2000111involved_in positive regulation of macrophage apoptotic process1ISSHomo_sapiens(9606)Process
GO:2000310involved_in regulation of NMDA receptor activity1ISSHomo_sapiens(9606)Process
GO:2000311involved_in regulation of AMPA receptor activity1ISSHomo_sapiens(9606)Process
GO:2000727involved_in positive regulation of cardiac muscle cell differentiation1IDAHomo_sapiens(9606)Process
GO:2000987involved_in positive regulation of behavioral fear response1ISSHomo_sapiens(9606)Process
GO:2001013involved_in epithelial cell proliferation involved in renal tubule morphogenesis1ISSHomo_sapiens(9606)Process
GO:2001016involved_in positive regulation of skeletal muscle cell differentiation1IDAHomo_sapiens(9606)Process

Expression