MADS box transcription enhancer factor 2A; myocyte enhancer factor 2A (MEF2A)

Function

• transcription factor
• binds specifically to the MEF2 element present in regulatory regions of many muscle-specific genes
• activates transcription via MEF2 element
• muscle-specific &/or growth factor-related transcription
• interacts with HDAC4 & SLC2A4RG

Structure

heterodimer

Compartment

nucleus

Alternative splicing

named isoforms=5

Expression

• isoforms MEF2 & MEFA are expressed only in
  • skeletal muscle
  • cardiac muscle
  • 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)

More general terms

• MADS box transcription enhancer factor 2
• phosphoprotein

Database

• OMIM: https://mirror.omim.org/entry/600660
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4205
• OMIM: https://mirror.omim.org/entry/608320
• UniProt: http://www.uniprot.org/uniprot/Q02078.html