MADS box transcription enhancer factor 2C; myocyte enhancer factor 2C (MEF2C)

Function

• transcription factor
• binds specifically to the MEF2 element present in regulatory regions of many muscle-specific genes
• activates transcription via MEF2 element
• controls cardiac morphogenesis & myogenesis
• involved in vascular development
• neurogenesis & development of cortical architecture (putative)
• interacts with HDAC7, CARM1, HDAC4
• Ser-59 phosphorylation enhances DNA binding activity
• Ser-396 phosphorylation represses transcriptional activity

Compartment

nucleus

Alternative splicing

• named isoforms=3
• isoforms 3 & 4, which lack the repressor domain, are more active than isoforms 1 & 2

Expression

• expressed in brain & skeletal muscle
• expression is highest during the early stages of postnatal development

More general terms

• MADS box transcription enhancer factor 2
• phosphoprotein

Database

• OMIM: https://mirror.omim.org/entry/600662
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4208
• UniProt: http://www.uniprot.org/uniprot/Q06413.html