Gene table of MEF2C : myocyte enhancer factor 2C

Gene-disease associations table

Disease IDDisease nameSource of annotation with MEF2COMIM linkNumber of associated genesgenes
PS156200MENTAL RETARDATION, AUTOSOMAL DOMINANTClinVar, OMIM link to OMIM 44EHMT1, KANSL1, AHDC1, SOX11, CDH15, KIRREL3, EEF1A2, KAT6A, ZMYND11, ARID1A, KMT2C, PPP2R5D, DYNC1H1, GRIN1, CTCF, SETD5, AUTS2, PACS1, DPP6, MBD5, DEAF1, KIF1A, SYNGAP1, PURA, POGZ, EPB41L1, PPP2R1A, NR1I3, CTNNB1, ARID1B, MYT1L, CACNG2, COL4A3BP, SMARCB1, MEF2C, SMARCE1, SMARCA4, ZBTB18, ADNP, GATAD2B, SETBP1, GRIN2B, CHAMP1, DYRK1A

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Annotation of the gene MEF2C

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is a TF of the genes:

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
cGMP-PKG signaling pathwayhsa040225.32
Transcriptional misregulation in cancerhsa052025.21
Oxytocin signaling pathwayhsa049215.4
MAPK signaling pathwayhsa040104.63
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
TRIF-mediated TLR3/TLR4 signaling R-HSA-9370616.47
ERK/MAPK targetsR-HSA-1987538.59
Toll Like Receptor 2 (TLR2) CascadeR-HSA-1814386.51
Immune SystemR-HSA-1682562.37
Transcriptional activation of mitochondrial biogenesisR-HSA-21512017.62
Mitochondrial biogenesisR-HSA-15922307.34
CDO in myogenesisR-HSA-3751708.12
Developmental BiologyR-HSA-12667383.48
MAPK targets/ Nuclear events mediated by MAP kinasesR-HSA-4502828.08
Toll Like Receptor 10 (TLR10) CascadeR-HSA-1681426.73
Signalling by NGFR-HSA-1665204.23
Organelle biogenesis and maintenanceR-HSA-18522414.63
Toll Like Receptor 3 (TLR3) CascadeR-HSA-1681646.47
Toll-Like Receptors CascadesR-HSA-1688985.91
Nuclear Events (kinase and transcription factor activation)R-HSA-1987258.4
MyD88-independent TLR3/TLR4 cascade R-HSA-1661666.47
MyogenesisR-HSA-5257938.12
Toll Like Receptor TLR6:TLR2 CascadeR-HSA-1681886.56
Toll Like Receptor 4 (TLR4) CascadeR-HSA-1660166.11
Toll Like Receptor 7/8 (TLR7/8) CascadeR-HSA-1681816.68
Innate Immune SystemR-HSA-1682493.17
Toll Like Receptor TLR1:TLR2 CascadeR-HSA-1681796.51
NGF signalling via TRKA from the plasma membraneR-HSA-1870374.51
Toll Like Receptor 5 (TLR5) CascadeR-HSA-1681766.73
Circadian ClockR-HSA-4002537.03
MAP kinase activation in TLR cascadeR-HSA-4502947.28
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activationR-HSA-9751386.72
MyD88 cascade initiated on plasma membraneR-HSA-9758716.73
MyD88 dependent cascade initiated on endosomeR-HSA-9751556.68
MyD88:Mal cascade initiated on plasma membraneR-HSA-1660586.56
Activated TLR4 signallingR-HSA-1660546.27
Signal TransductionR-HSA-1625821.78
Toll Like Receptor 9 (TLR9) CascadeR-HSA-1681386.62
Associated GO terms for Molecular function
GO termGO IDGO IC
enzyme bindingGO:00198992.27
activating transcription factor bindingGO:00336135.68
RNA polymerase II distal enhancer sequence-specific DNA bindingGO:00009805.58
RNA polymerase II regulatory region DNA bindingGO:00010123.36
core promoter proximal region DNA bindingGO:00011593.82
enhancer sequence-specific DNA bindingGO:00011585.36
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010774.31
macromolecular complex bindingGO:00448772.61
bindingGO:00054880.18
nucleic acid bindingGO:00036761.44
DNA bindingGO:00036771.92
heterocyclic compound bindingGO:19013631.06
sequence-specific DNA bindingGO:00435652.79
sequence-specific double-stranded DNA bindingGO:19908373.2
core promoter proximal region sequence-specific DNA bindingGO:00009873.83
double-stranded DNA bindingGO:00036903.09
histone deacetylase bindingGO:00428265.08
transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00009823.94
RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:00009813.29
RNA polymerase II regulatory region sequence-specific DNA bindingGO:00009773.37
transcription factor activity, RNA polymerase II core promoter sequence-specificGO:00009837.1
transcription factor bindingGO:00081343.46
regulatory region nucleic acid bindingGO:00010673.03
enhancer bindingGO:00353265.21
core promoter bindingGO:00010474.71
core promoter sequence-specific DNA bindingGO:00010465.12
transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific bindingGO:00012056.48
HMG box domain bindingGO:00718376.85
RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009783.88
transcription regulatory region DNA bindingGO:00442123.03
chromatin bindingGO:00036823.64
miRNA bindingGO:00351986.97
transcription factor activity, sequence-specific DNA bindingGO:00037002.65
organic cyclic compound bindingGO:00971591.05
nucleic acid binding transcription factor activityGO:00010712.65
transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:00037055.23
transcription regulatory region sequence-specific DNA bindingGO:00009763.24
RNA bindingGO:00037232.36
protein bindingGO:00055150.46
regulatory region DNA bindingGO:00009753.03
AT DNA bindingGO:00036807.66
protein dimerization activityGO:00469832.72
protein heterodimerization activityGO:00469823.64
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:00012283.98
protein domain specific bindingGO:00199043.32