Gene data
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].
Gene Ontology
Biological process
Molecular function
transcription cis-regulatory region bindingRNA polymerase II transcription regulatory region sequence-specific DNA bindingRNA polymerase II transcription regulatory region sequence-specific DNA bindingRNA polymerase II cis-regulatory region sequence-specific DNA bindingDNA-binding transcription factor activity, RNA polymerase II-specificDNA-binding transcription factor activity, RNA polymerase II-specificDNA-binding transcription factor activity, RNA polymerase II-specificDNA-binding transcription factor activity, RNA polymerase II-specific
Pathways
MAPK signaling pathway - Homo sapiens (human)cGMP-PKG signaling pathway - Homo sapiens (human)Apelin signaling pathway - Homo sapiens (human)Oxytocin signaling pathway - Homo sapiens (human)Parathyroid hormone synthesis, secretion and action - Homo sapiens (human)Transcriptional misregulation in cancer - Homo sapiens (human)Fluid shear stress and atherosclerosis - Homo sapiens (human)Developmental BiologyDevelopmental BiologyCytokine Signaling in Immune system
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
View on Ensembl →
via Ensembl · EMBL-EBI
Research
1,880 papers- 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
- Instance of
- gene
- Image
- Protein MEF2C PDB 1c7u.png
Show 7 more facts
- HomoloGene ID
- 31087
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/4208
- genomic end
- 88199922
- genomic start
- 88013975
- chromosome
- human chromosome 5
- cytogenetic location
- 5q14.3
via Wikidata · CC0