MEF2D

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]

Description

Myocyte enhancer factor 2D

Tissue specificity

Tissue enhanced (skeletal muscle)

Subcell location

Nucleoplasm, Vesicles

Predicted location

Intracellular

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transcription factors

Chromosome

1 (156463727 - 156500779)

Ensembl ID

ENSG00000116604  (ver. 103.38)

Orthologs

Mouse Mef2d: ENSMUSG00000001419

UniProt

Q14814

neXtProt

NX_Q14814

Human splice variants
Mouse splice variants

Protein structure