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MADS box transcription enhancer factor 2A; myocyte enhancer factor 2A (MEF2A)
Function:
1) transcription factor
2) binds specifically to the MEF2 element present in regulatory regions of many muscle-specific genes
3) activates transcription via MEF2 element
4) muscle-specific &/or growth factor-related transcription
5) interacts with HDAC4 & SLC2A4RG
Structure: heterodimer
Compartment: nucleus
Alternative splicing: named isoforms=5
Expression:
- isoforms MEF2 & MEFA are expressed only in
a) skeletal muscle
b) cardiac muscle
c) brain
- isoform RSRFC4 & RSRFC9 are expressed in all tissues
Pathology:
- defects in MEF2A are a cause of autosomal dominant coronary artery disease 1 with myocardial infarction (ADCAD1)
General
MADS box transcription enhancer factor 2; myocyte enhancer factor 2 (MEF2)
phosphoprotein
Properties
SIZE: MW = 55 kD
entity length = 507 aa
COMPARTMENT: cell nucleus
MOTIF: MADS domain or MADS box {3-57}
MOTIF: DNA-binding motif
binding site
FOR-BINDING-OF: transcription factor
lysine-rich region {4-31}
MOTIF: lysine residue (SEVERAL)
DNA-binding motif
SITE: 58-86
threonine-rich region {141-186}
MOTIF: threonine residue (SEVERAL)
Ser phosphorylation site {S289}
proline-rich region
SITE: 420-446
MOTIF: proline residue (SEVERAL)
Database Correlations
OMIM correlations
MORBIDMAP 600660
UniProt Q02078
Pfam PF00319
Entrez Gene 4205
References
- OMIM :accession 600660
- Entrez Gene :accession 4205
- UniProt :accession Q02078