MEF2C
Identifiers
Aliases	MEF2C, C5DELq14.3, DEL5q14.3, myocyte enhancer factor 2C
External IDs	OMIM: 600662 MGI: 99458 HomoloGene: 31087 GeneCards: MEF2C
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q14.3 Start 88,717,117 bp[1] End 88,904,257 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in middle temporal gyrus biceps brachii Brodmann area 23 vastus lateralis muscle triceps brachii muscle orbitofrontal cortex frontal pole Brodmann area 46 deltoid muscle Achilles tendon n/a More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein dimerization activity DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific histone deacetylase binding RNA polymerase II general transcription initiation factor activity core promoter sequence-specific DNA binding RNA polymerase II transcription regulatory region sequence-specific DNA binding HMG box domain binding RNA polymerase II cis-regulatory region sequence-specific DNA binding minor groove of adenine-thymine-rich DNA binding chromatin binding cis-regulatory region sequence-specific DNA binding protein binding DNA binding sequence-specific DNA binding protein heterodimerization activity transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus nuclear speck intracellular membrane-bounded organelle nucleoplasm cytoplasm postsynapse sarcoplasm protein-containing complex Biological process negative regulation of neuron apoptotic process embryonic skeletal system morphogenesis myotube differentiation positive regulation of skeletal muscle tissue development cell morphogenesis involved in neuron differentiation positive regulation of muscle cell differentiation regulation of synapse assembly muscle organ development outflow tract morphogenesis monocyte differentiation sinoatrial valve morphogenesis negative regulation of ossification heart looping positive regulation of skeletal muscle cell differentiation blood vessel remodeling blood vessel development positive regulation of cardiac muscle cell proliferation humoral immune response positive regulation of alkaline phosphatase activity negative regulation of epithelial cell proliferation regulation of synaptic transmission, glutamatergic melanocyte differentiation apoptotic process B cell receptor signaling pathway cellular response to calcium ion cellular response to transforming growth factor beta stimulus renal tubule morphogenesis nephron tubule epithelial cell differentiation cell fate commitment cardiac ventricle formation regulation of transcription, DNA-templated cardiac muscle cell differentiation regulation of neuron apoptotic process platelet formation neuron development smooth muscle cell differentiation positive regulation of protein homodimerization activity negative regulation of gene expression transcription, DNA-templated cellular response to trichostatin A positive regulation of transcription, DNA-templated heart development epithelial cell proliferation involved in renal tubule morphogenesis cardiac muscle hypertrophy in response to stress positive regulation of B cell proliferation positive regulation of neuron differentiation excitatory postsynaptic potential learning or memory positive regulation of macrophage apoptotic process positive regulation of cardiac muscle cell differentiation cellular response to parathyroid hormone stimulus primary heart field specification secondary heart field specification regulation of dendritic spine development regulation of germinal center formation roof of mouth development cell differentiation chondrocyte differentiation positive regulation of bone mineralization neural crest cell differentiation neuron migration B cell homeostasis negative regulation of transcription by RNA polymerase II endochondral ossification regulation of neurotransmitter secretion cellular response to fluid shear stress nervous system development regulation of synaptic plasticity regulation of NMDA receptor activity muscle cell fate determination positive regulation of osteoblast differentiation regulation of synaptic activity osteoblast differentiation neuron differentiation regulation of sarcomere organization skeletal muscle cell differentiation positive regulation of behavioral fear response glomerulus morphogenesis germinal center formation positive regulation of cell proliferation in bone marrow MAPK cascade regulation of AMPA receptor activity multicellular organism development B cell proliferation positive regulation of gene expression positive regulation of myoblast differentiation cartilage morphogenesis embryonic viscerocranium morphogenesis ventricular cardiac muscle cell differentiation cellular response to lipopolysaccharide skeletal muscle tissue development regulation of megakaryocyte differentiation positive regulation of transcription by RNA polymerase II transcription by RNA polymerase II negative regulation of blood vessel endothelial cell migration negative regulation of vascular associated smooth muscle cell proliferation negative regulation of vascular associated smooth muscle cell migration negative regulation of vascular endothelial cell proliferation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4208 17260 Ensembl ENSG00000081189 ENSMUSG00000005583 UniProt Q06413 Q8CFN5 RefSeq (mRNA) NM_001131005 NM_001193347 NM_001193348 NM_001193349 NM_001193350 NM_001308002 NM_002397 NM_001363581 NM_001170537 NM_025282 RefSeq (protein) NP_001124477 NP_001180276 NP_001180277 NP_001180278 NP_001180279 NP_001294931 NP_002388 NP_001350510 NP_001351258 NP_001351259 NP_001351260 NP_001351261 NP_001351262 NP_001351263 NP_001351264 NP_001351265 NP_001351266 NP_001351267 NP_001351268 NP_001351269 NP_001351270 NP_001351271 NP_001351272 NP_001351273 NP_001351274 NP_001351275 NP_001351276 NP_001351277 NP_001351278 NP_001351279 NP_001351281 NP_001351282 NP_001351283 NP_001351284 NP_001351285 NP_001351286 NP_001294931.1 NP_001164008 NP_001334493 NP_001334495 NP_001334496 NP_001334497 NP_001334498 NP_001334500 NP_001334501 NP_001334502 NP_001334503 NP_001334504 NP_001334505 NP_001334506 NP_001334507 NP_001334508 NP_001334509 NP_001334510 NP_079558 Location (UCSC) Chr 5: 88.72 – 88.9 Mb n/a PubMed search [2] [3]
Wikidata
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Myocyte-specific enhancer factor 2C also known as MADS box transcription enhancer factor 2, polypeptide C is a protein that in humans is encoded by the MEF2C gene.^[4][5] MEF2C is a transcription factor in the Mef2 family.^[6][7]

Genomics

The gene is located at 5q14.3 on the minus (Crick) strand and is 200,723 bases in length. The encoded protein has 473 amino acids with a predicted molecular weight of 51.221 kilodaltons. Three isoforms have been identified. Several post translational modifications have been identified including phosphorylation on serine-59 and serine-396, sumoylation on lysine-391, acetylation on lysine-4 and proteolytic cleavage.

Interactions

MEF2C has been shown to interact with:

• SETD1A

Biological significance

This gene is involved in cardiac morphogenesis and myogenesis and vascular development. It may also be involved in neurogenesis and in the development of cortical architecture. Mice without a functional copy of the Mef2c gene die before birth and have abnormalities in the heart and vascular system.^[15] It is one of the targets of an oncomiR, MIRN21.

In humans mutations of this gene result in autosomal dominant mental retardation 20 (MRD20),^[16] characterised by severe psychomotor impairment, periodic tremor and an abnormal motor pattern with mirror movement of the upper limbs observed during infancy, hypotonia, abnormal EEG, epilepsy, absence of speech, autistic behavior, bruxism, and mild dysmorphic features, mild thinning of the corpus callosum and delay of white matter myelination in the occipital lobes^[17]

MEF2C-binding site is associated with minor allele of SNP rs630923, associated with the risk of multiple sclerosis, and responsible for reduced CXCR5 gene promoter activity in B-cells during activation, that could lead to decreased autoimmune response ^[18]