MEF2D, Official Symbol MEF2Dprovided by HGNC Official Full Name myocyte enhancer factor 2Dprovided by HGNC Primary source HGNC:HGNC:6997 See related Ensembl:ENSG00000116604 MIM:600663; AllianceGenome:HGNC:6997 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene is a member of the myocyte-specific enhancer factor 2 (MEF2) family of transcription factors. Members of this family are involved in control of muscle and neuronal cell differentiation and development, and are regulated by class II histone deacetylases. Fusions of the encoded protein with Deleted in Azoospermia-Associated Protein 1 (DAZAP1) due to a translocation have been found in an acute lymphoblastic leukemia cell line, suggesting a role in leukemogenesis. The encoded protein may also be involved in Parkinson disease and myotonic dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012] Expression Ubiquitous expression in bone marrow (RPKM 18.8), brain (RPKM 15.5) and 25 other tissues See more Orthologs mouse all