InnateDB Protein
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IDBP-583899.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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MEF2A
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Protein Name
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myocyte enhancer factor 2A
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Synonyms
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ADCAD1; mef2; RSRFC4; RSRFC9;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000453095
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InnateDB Gene
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IDBG-31725 (MEF2A)
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Protein Structure
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Function |
Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle- specific genes. Also involved in the activation of numerous growth factor- and stress-induced genes. Mediates cellular functions not only in skeletal and cardiac muscle development, but also in neuronal differentiation and survival. Plays diverse roles in the control of cell growth, survival and apoptosis via p38 MAPK signaling in muscle-specific and/or growth factor-related transcription. In cerebellar granule neurons, phosphorylated and sumoylated MEF2A represses transcription of NUR77 promoting synaptic differentiation. Associates with chromatin to the ZNF16 promoter. {ECO:0000269PubMed:11904443, ECO:0000269PubMed:12691662, ECO:0000269PubMed:15834131, ECO:0000269PubMed:16371476, ECO:0000269PubMed:16484498, ECO:0000269PubMed:16563226, ECO:0000269PubMed:21468593, ECO:0000269PubMed:9858528}.
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Subcellular Localization |
Nucleus {ECO:0000255PROSITE- ProRule:PRU00251, ECO:0000269PubMed:12691662, ECO:0000269PubMed:16563226}.
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Disease Associations |
Coronary artery disease, autosomal dominant, 1 (ADCAD1) [MIM:608320]: A common heart disease characterized by reduced or absent blood flow in one or more of the arteries that encircle and supply the heart. Its most important complication is acute myocardial infarction. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Isoform MEF2 and isoform MEFA are expressed only in skeletal and cardiac muscle and in the brain. Isoform RSRFC4 and isoform RSRFC9 are expressed in all tissues examined. {ECO:0000269PubMed:1516833, ECO:0000269PubMed:1748287}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 49 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
Experimentally validated |
Total |
49
[view]
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Protein-Protein |
45
[view]
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Protein-DNA |
3
[view]
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Protein-RNA |
0
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DNA-DNA |
1
[view]
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
6 [view]
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Molecular Function |
Accession |
GO Term |
GO:0000977
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RNA polymerase II regulatory region sequence-specific DNA binding
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GO:0000978
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RNA polymerase II core promoter proximal region sequence-specific DNA binding
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GO:0000981
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sequence-specific DNA binding RNA polymerase II transcription factor activity
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GO:0001077
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RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
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GO:0001085
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RNA polymerase II transcription factor binding
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GO:0001105
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RNA polymerase II transcription coactivator activity
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GO:0003677
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DNA binding
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GO:0003682
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chromatin binding
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GO:0003700
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sequence-specific DNA binding transcription factor activity
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GO:0005515
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protein binding
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GO:0033613
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activating transcription factor binding
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GO:0035035
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histone acetyltransferase binding
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GO:0042826
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histone deacetylase binding
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GO:0043565
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sequence-specific DNA binding
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GO:0046332
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SMAD binding
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GO:0046982
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protein heterodimerization activity
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GO:0046983
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protein dimerization activity
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR002100
Transcription factor, MADS-box
IPR022102
Holliday junction regulator protein family C-terminal
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PFAM |
PF00319
PF12347
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PRINTS |
PR00404
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PIRSF |
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SMART |
SM00432
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TIGRFAMs |
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Modification |
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SwissProt |
Q02078
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PhosphoSite |
PhosphoSite-Q02078
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TrEMBL |
H0YNI2
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UniProt Splice Variant |
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Entrez Gene |
4205
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UniGene |
Hs.714448
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RefSeq |
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HUGO |
HGNC:6993
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OMIM |
600660
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CCDS |
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HPRD |
02807
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IMGT |
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EMBL |
AB208985
AC008525
AC008835
AC015660
AC022692
AC103967
AK294207
BC013437
BC053871
U44889
U49012
U49013
U49015
U49016
U49017
U49018
U49019
U49020
X63381
X68503
X68505
Y16312
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GenPept |
AAB17195
AAB17196
AAH13437
AAH53871
BAD92222
BAG57518
CAA44979
CAA48516
CAA48517
CAA76175
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