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InnateDB Protein
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IDBP-266409.6
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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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Mef2d
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Protein Name
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myocyte enhancer factor 2D
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Synonyms
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C80750;
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Species
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Mus musculus
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Ensembl Protein
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ENSMUSP00000103184
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InnateDB Gene
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IDBG-159892 (Mef2d)
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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, 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. Plays a critical role in the regulation of neuronal apoptosis. {ECO:0000269PubMed:16407541, ECO:0000269PubMed:18299387}.
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| Subcellular Localization |
Nucleus {ECO:0000255PROSITE- ProRule:PRU00251, ECO:0000269PubMed:18299387}. Note=Translocated by HDAC4 to nuclear dots. {ECO:0000250}.
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| Disease Associations |
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| Tissue Specificity |
Widely expressed though mainly restricted to skeletal and cardiac muscle, brain, neurons and lymphocytes. Differentially expressed depending on if isoforms contain the beta domain or not, with the total expression of the beta domain- lacking isoforms vastly exceding that of the beta domain- containing isoforms. Isoforms containing the beta domain are expressed primarily in skeletal and cardiac muscle and in brain. Also present in lung and testis. Splicing to include the beta domain is induced in differentiating myocytes. Isoforms lacking the beta domain are expressed less abundantly in skeletal muscle, brain and lymphocytes, and are uniquely found in ovary, liver, spleen and kidney. In embryos, the beta domain-containing and beta domain-lacking isoforms are equally expressed. Also expressed cerebellar granule neurons and other regions of the CNS. Highest levels in the olfactory bulb, cortex, hippocampus, thalamus and cerebellum. {ECO:0000269PubMed:15834131, ECO:0000269PubMed:16407541, ECO:0000269PubMed:9013788}.
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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 12 experimentally validated interaction(s) in this database.
They are also associated with 31 interaction(s) predicted by orthology.
| Experimentally validated |
| Total |
12
[view]
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| Protein-Protein |
7
[view]
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| Protein-DNA |
3
[view]
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| Protein-RNA |
2
[view]
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| DNA-DNA |
0
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| RNA-RNA |
0
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| DNA-RNA |
0
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| Predicted by orthology |
| Total |
31 [view]
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Molecular Function |
| Accession |
GO Term |
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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: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:0003677
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DNA binding
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GO:0003700
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sequence-specific DNA binding transcription factor activity
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GO:0019899
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enzyme binding
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GO:0042803
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protein homodimerization activity
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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 |
MGI:99533
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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 |
Q63943
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| PhosphoSite |
PhosphoSite-Q63943
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| TrEMBL |
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| UniProt Splice Variant |
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| Entrez Gene |
17261
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| UniGene |
Mm.485397
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| RefSeq |
XP_006501156
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| MGI ID |
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| MGI Symbol |
Mef2d
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| OMIM |
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| CCDS |
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| HPRD |
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| IMGT |
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| EMBL |
AC137525
S68893
S68895
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| GenPept |
AAB29973
AAB29974
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Version 5.4