MEF2C

Name

myocyte enhancer factor 2C

Type

protein-coding

Position

88,717,117–88,904,257 (−)

Aliases

C5DELq14.3, DEL5q14.3, NEDHSIL

Ensembl

ENSG00000081189

RefSeq RNA

NM_001131005.2, NM_001193347.1, NM_001193348.1, NM_001193349.3, NM_001193350.2

RefSeq protein

NP_001124477.1, NP_001180276.1, NP_001180277.1, NP_001180278.1, NP_001180279.1

This locus encodes a member of the MADS box transcription enhancer factor 2 (MEF2) family of proteins, which play a role in myogenesis. The encoded protein, MEF2 polypeptide C, has both trans-activating and DNA binding activities. This protein may play a role in maintaining the differentiated state of muscle cells. Mutations and deletions at this locus have been associated with severe cognitive disability, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010].

via MyGene.info

Gene · Ensembl

myocyte enhancer factor 2C

Symbol

MEF2C

Biotype

Protein coding

Organism

Homo sapiens

Location

5:88,717,117-88,904,257

Strand

Reverse (−)

Assembly

GRCh38

• MEF2C-Related Disorder.1993
• MEF2C promotes M1 macrophage polarization and Th1 responses.Cellular & molecular immunology · 2022
• MEF2C regulates NK cell effector functions through control of lipid metabolism.Nature immunology · 2024
• The transcription factor MEF2C restrains microglial overactivation by inhibiting kinase CDK2.Immunity · 2025
• MEF2C silencing downregulates NF2 and E-cadherin and enhances Erastin-induced ferroptosis in meningioma.Neuro-oncology · 2021

via PubMed

Wikidata facts

Image

Protein MEF2C PDB 1c7u.png

via Wikidata · CC0