MEF2C
entrez
4208
canonical
uniprot
Q06413
canonical
ensembl
ENSG00000081189
resolver
ensp
ENSP00000340874
resolver
ensp
ENSP00000389610
resolver
ensp
ENSP00000396219
resolver
ensp
ENSP00000421925
resolver
ensp
ENSP00000422390
resolver
ensp
ENSP00000423597
resolver
ensp
ENSP00000424606
resolver
ensp
ENSP00000425636
resolver
ensp
ENSP00000426665
resolver
ensp
ENSP00000486490
resolver
ensp
ENSP00000486554
resolver
ensp
ENSP00000487184
resolver
ensp
ENSP00000487311
resolver
ensp
ENSP00000487437
resolver
ensp
ENSP00000487538
resolver
ensp
ENSP00000490473
resolver
ensp
ENSP00000516755
resolver
ensp
ENSP00000530167
resolver
ensp
ENSP00000530168
resolver
ensp
ENSP00000530169
resolver
ensp
ENSP00000530170
resolver
ensp
ENSP00000530171
resolver
ensp
ENSP00000530172
resolver
ensp
ENSP00000530173
resolver
ensp
ENSP00000530174
resolver
ensp
ENSP00000530175
resolver
ensp
ENSP00000530176
resolver
ensp
ENSP00000530178
resolver
ensp
ENSP00000530179
resolver
ensp
ENSP00000530181
resolver
ensp
ENSP00000530183
resolver
ensp
ENSP00000530185
resolver
ensp
ENSP00000530186
resolver
ensp
ENSP00000530188
resolver
ensp
ENSP00000530189
resolver
ensp
ENSP00000530191
resolver
ensp
ENSP00000530192
resolver
ensp
ENSP00000530193
resolver
ensp
ENSP00000530194
resolver
ensp
ENSP00000614429
resolver
ensp
ENSP00000614430
resolver
ensp
ENSP00000614432
resolver
ensp
ENSP00000614435
resolver
ensp
ENSP00000614436
resolver
ensp
ENSP00000614439
resolver
ensp
ENSP00000614444
resolver
ensp
ENSP00000614447
resolver
ensp
ENSP00000614453
resolver
ensp
ENSP00000614456
resolver
ensp
ENSP00000614457
resolver
ensp
ENSP00000614458
resolver
ensp
ENSP00000614459
resolver
enst
ENST00000510942
resolver
enst
ENST00000625585
resolver
enst
ENST00000626391
resolver
enst
ENST00000627659
resolver
enst
ENST00000707127
resolver
enst
ENST00000860109
resolver
enst
ENST00000860110
resolver
enst
ENST00000860112
resolver
enst
ENST00000860114
resolver
enst
ENST00000860116
resolver
enst
ENST00000860117
resolver
enst
ENST00000860120
resolver
enst
ENST00000860122
resolver
enst
ENST00000860124
resolver
enst
ENST00000860127
resolver
enst
ENST00000860132
resolver
enst
ENST00000860134
resolver
enst
ENST00000944370
resolver
enst
ENST00000944371
resolver
enst
ENST00000944373
resolver
enst
ENST00000944377
resolver
enst
ENST00000944388
resolver
enst
ENST00000944397
resolver
enst
ENST00000944398
resolver
genesymbol
MEF2C
resolver
hgnc
HGNC:6996
resolver
uniprot
A0A0D9SFD0
resolver
uniprot
A0A0D9SG65
resolver
uniprot
A0A0D9SGI5
resolver
uniprot
A0A0R4J2G5
resolver
uniprot
A0A9L9PYA3
resolver
uniprot
C9JMZ0
resolver
uniprot
D7F7N5
resolver
uniprot
D8L7E9
resolver
uniprot
F8W7V7
resolver
uniprot_entry
A0A0D9SFD0_HUMAN
resolver
uniprot_entry
A0A0D9SG65_HUMAN
resolver
uniprot_entry
A0A0D9SGI5_HUMAN
resolver
uniprot_entry
A0A0R4J2G5_HUMAN
resolver
uniprot_entry
A0A9L9PYA3_HUMAN
resolver
uniprot_entry
D8L7E9_HUMAN
resolver
uniprot_entry
MEF2C_HUMAN
resolver
uniprot_sec
C9JMZ0
resolver
uniprot_sec
D7F7N5
resolver
uniprot_sec
F8W7V7
resolver
amino_acid_sequence
MGRKKIQITRIMDERNRQVTFTKRKFGLMKKAYELSVLCDCEIALIIFNSTNKLFQYASTDMDKVLLKYTEYNEPHESRTNSDIVETLRKKGLNGCDSPDPDADDSVGHSPESEDKYRKINEDIDLMISRQRLCAVPPPNFEMPVSIPVSSHNSLVYSNPVSSLGNPNLLPLAHPSLQRNSMSPGVTHRPPSAGNTGGLMGGDLTSGAGTSAGNGYGNPRNSPGLLVSPGNLNKNMQAKSPPPMNLGMNNRKPDLRVLIPPGSKNTMPSVSEDVDLLLNQRINNSQSAQSLATPVVSVATPTLPGQGMGGYPSAISTTYGTEYSLSSADLSSLSGFNTASALHLGSVTGWQQQHLHNMPPSALSQLGACTSTHLSQSSNLSLPSTQSLNIKSEPVSPPRDRTTTPSRYPQHTRHEAGRSPVDSLSSCSSSYDGSDREDHRNEFHSPIGLTRPSPDERESPSVKRMRLSEGWAT
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language (NEDHSIL) [MIM:613443]: An autosomal dominant disorder characterized by impaired intellectual development, absent speech, hypotonia, poor eye contact and stereotypic movements. Dysmorphic features include high broad forehead with variable small chin, short nose with anteverted nares, large open mouth, upslanted palpebral fissures and prominent eyebrows. Some patients have seizures. {ECO:0000269|PubMed:19592390}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription activator which binds specifically to the MEF2 element present in the regulatory regions of many muscle-specific genes. Controls cardiac morphogenesis and myogenesis, and is also involved in vascular development. Enhances transcriptional activation mediated by SOX18. Plays an essential role in hippocampal-dependent learning and memory by suppressing the number of excitatory synapses and thus regulating basal and evoked synaptic transmission. Crucial for normal neuronal development, distribution, and electrical activity in the neocortex. Necessary for proper development of megakaryocytes and platelets and for bone marrow B-lymphopoiesis. Required for B-cell survival and proliferation in response to BCR stimulation, efficient IgG1 antibody responses to T-cell-dependent antigens and for normal induction of germinal center B-cells. May also be involved in neurogenesis and in the development of cortical architecture (By similarity). Isoforms that lack the repressor domain are more active than isoform 1. {ECO:0000250|UniProtKB:Q8CFN5, ECO:0000269|PubMed:11904443, ECO:0000269|PubMed:15340086, ECO:0000269|PubMed:15831463, ECO:0000269|PubMed:15834131, ECO:0000269|PubMed:9069290, ECO:0000269|PubMed:9384584}.
uniprot
proteins
mass_dalton
51221
uniprot
proteins
mutagenesis
MUTAGEN 116; /note="K->R: Reduced acetylation. Further reduction in acetylation; when associated with R-119. Complete loss of acetylation, 15% less transactivation activity and slightly reduced DNA binding; when associated with R-119; R-234; R-239; R-252 and R-262."; /evidence="ECO:0000269|PubMed:15831463"; MUTAGEN 119; /note="K->R: Reduced acetylation. Further reduction in acetylation; when associated with R-119. Complete loss of acetylation, 15% less transactivation activity and slightly reduced DNA binding; when associated with R-116; R-234; R-239; R-252 and R-262."; /evidence="ECO:0000269|PubMed:15831463"; MUTAGEN 234; /note="K->R: Reduced acetylation. Complete loss of acetylation, 15% less transactivation activity and slightly reduced DNA binding; when associated with R-116; R-119; R-239; R-252 and R-264."; /evidence="ECO:0000269|PubMed:15831463"; MUTAGEN 239; /note="K->R: Reduced acetylation. Complete loss of acetylation, 15% less transactivation activity and slightly reduced DNA binding; when associated with R-116; R-119; R-234; R-252 and R-264."; /evidence="ECO:0000269|PubMed:15831463"; MUTAGEN 252; /note="K->R: Reduced acetylation. Complete loss of acetylation, 15% less transactivation activity and slightly reduced DNA binding; when associated with R-116; R-119; R-234; R-239 and R-264."; /evidence="ECO:0000269|PubMed:15831463"; MUTAGEN 264; /note="K->R: Reduced acetylation. Complete loss of acetylation, 15% less transactivation activity and slightly reduced DNA binding; when associated with R-116; R-119; R-234; R-239 and R-252."; /evidence="ECO:0000269|PubMed:15831463"; MUTAGEN 271; /note="S->A: No effect on transcriptional activation."; /evidence="ECO:0000269|PubMed:15834131"; MUTAGEN 272; /note="E->Q: Reduced transcriptional activation. Completely abolishes transcriptional activation; when associated with N-273 and N-275."; /evidence="ECO:0000269|PubMed:15834131"; MUTAGEN 273; /note="D->N: Reduced transcriptional activation. Completely abolishes transcriptional activation; when associated with Q-272 and N-275."; /evidence="ECO:0000269|PubMed:15834131"; MUTAGEN 275; /note="D->N: Reduced transcriptional activation. Completely abolishes transcriptional activation; when associated with Q-272 and N-273."; /evidence="ECO:0000269|PubMed:15834131"; MUTAGEN 293; /note="T->A: Abolishes MAPK14-mediated phosphorylation. No effect on MAPK7-mediated phosphorylation; when associated with A-300."; /evidence="ECO:0000269|PubMed:9069290, ECO:0000269|PubMed:9384584"; MUTAGEN 300; /note="T->A: Abolishes MAPK14-mediated phosphorylation. No effect on MAPK7-mediated phosphorylation; when associated with A-293."; /evidence="ECO:0000269|PubMed:9069290, ECO:0000269|PubMed:9384584"; MUTAGEN 387; /note="S->A: No change in transactivational activation for isoforms with or without the beta domain."; /evidence="ECO:0000269|PubMed:15834131"; MUTAGEN 391; /note="K->R: Abolishes sumoylation."; /evidence="ECO:0000269|PubMed:16478538"; MUTAGEN 396; /note="S->A,C: Abolishes sumoylation. Enhanced transcriptional activity."; /evidence="ECO:0000269|PubMed:15340086, ECO:0000269|PubMed:15834131, ECO:0000269|PubMed:16478538"; MUTAGEN 396; /note="S->A: No change in transactivational activation for isoforms with or without the beta domain."; /evidence="ECO:0000269|PubMed:15340086, ECO:0000269|PubMed:15834131, ECO:0000269|PubMed:16478538"; MUTAGEN 396; /note="S->E: No effect on sumoylation. No effect on transcriptional activity."; /evidence="ECO:0000269|PubMed:15340086, ECO:0000269|PubMed:15834131, ECO:0000269|PubMed:16478538"; MUTAGEN 419; /note="S->A: No effect on MAPK14-mediated phosphorylation. Abolishes MAPK7-mediated phosphorylation and reduces transactivation activity."; /evidence="ECO:0000269|PubMed:9069290, ECO:0000269|PubMed:9384584"; MUTAGEN 432; /note="D->A: Abolishes cleavage by caspase 7."; /evidence="ECO:0000269|PubMed:11904443
uniprot
proteins
post_translational_modification
PTM: Phosphorylation on Ser-59 enhances DNA binding activity (By similarity). Phosphorylation on Ser-396 is required for Lys-391 sumoylation and inhibits transcriptional activity. {ECO:0000250, ECO:0000269|PubMed:10849446, ECO:0000269|PubMed:15340086, ECO:0000269|PubMed:15561718, ECO:0000269|PubMed:15743823, ECO:0000269|PubMed:16478538, ECO:0000269|PubMed:9069290, ECO:0000269|PubMed:9384584}.; PTM: Acetylated by p300 on several sites in diffentiating myocytes. Acetylation on Lys-4 increases DNA binding and transactivation (By similarity). {ECO:0000250}.; PTM: Sumoylated on Lys-391 with SUMO2 but not by SUMO1 represses transcriptional activity. {ECO:0000269|PubMed:15561718, ECO:0000269|PubMed:15743823, ECO:0000269|PubMed:16478538}.; PTM: Proteolytically cleaved in cerebellar granule neurons, probably by caspase 7, following neurotoxicity. Preferentially cleaves the CDK5-mediated hyperphosphorylated form which leads to neuron apoptosis and transcriptional inactivation. {ECO:0000269|PubMed:11904443}.
uniprot
proteins
protein_family
MEF2 family
uniprot
proteins
pubmed
10523670
uniprot
proteins
pubmed
10849446
uniprot
proteins
pubmed
11535832
uniprot
proteins
pubmed
11904443
uniprot
proteins
pubmed
15340086
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15561718
uniprot
proteins
pubmed
15743823
uniprot
proteins
pubmed
15831463
uniprot
proteins
pubmed
15834131
uniprot
proteins
pubmed
15862299
uniprot
proteins
pubmed
16478538
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19592390
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23708187
uniprot
proteins
pubmed
27864847
uniprot
proteins
pubmed
7679508
uniprot
proteins
pubmed
8455629
uniprot
proteins
pubmed
9069290
uniprot
proteins
pubmed
9384584
uniprot
proteins
pubmed
9798649
uniprot
proteins
sequence_length
473
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:A0A096MJY4}. Cytoplasm, sarcoplasm {ECO:0000250|UniProtKB:A0A096MJY4}.
uniprot
proteins