InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MEF2C

Summary

InnateDB Protein

IDBP-482962.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MEF2C

Protein Name

myocyte enhancer factor 2C

Synonyms

C5DELq14.3; DEL5q14.3;

Species

Homo sapiens

Ensembl Protein

ENSP00000424606

InnateDB Gene

IDBG-33077 (MEF2C)

Protein Structure

UniProt Annotation

Function

Transcription activator which binds specifically to the MEF2 element present in the regulatory regions of many muscle- specific genes. Controls cardiac morphogenesis and myogenesis, and is also involved in vascular development. Plays an essential role in hippocampal-dependent learning and memory by suppressing the number of excitatory synapses and thus regulating basal and evoked synaptic transmission. Crucial for normal neuronal development, distribution, and electrical activity in the neocortex. Necessary for proper development of megakaryocytes and platelets and for bone marrow B-lymphopoiesis. Required for B-cell survival and proliferation in response to BCR stimulation, efficient IgG1 antibody responses to T-cell-dependent antigens and for normal induction of germinal center B-cells. May also be involved in neurogenesis and in the development of cortical architecture (By similarity). Isoform 3 and isoform 4, which lack the repressor domain, are more active than isoform 1 and isoform 2. {ECO:0000250, ECO:0000269PubMed:11904443, ECO:0000269PubMed:15340086, ECO:0000269PubMed:15831463, ECO:0000269PubMed:15834131, ECO:0000269PubMed:9069290, ECO:0000269PubMed:9384584}.

Subcellular Localization

Nucleus.

Disease Associations

Mental retardation, autosomal dominant 20 (MRD20) [MIM:613443]: A disorder characterized by severe mental retardation, absent speech, hypotonia, poor eye contact and stereotypic movements. Dysmorphic features include high broad forehead with variable small chin, short nose with anteverted nares, large open mouth, upslanted palpebral fissures and prominent eyebrows. Some patients have seizures. {ECO:0000269PubMed:19592390}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in brain and skeletal muscle. {ECO:0000269PubMed:9798649}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 43 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.

Experimentally validated
Total	43 [view]
Protein-Protein	40 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	2 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	8 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000981	sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0000983	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003677	DNA binding
GO:0003680	AT DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0033613	activating transcription factor binding
GO:0035198	miRNA binding
GO:0044212	transcription regulatory region DNA binding
GO:0046982	protein heterodimerization activity
GO:0046983	protein dimerization activity

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0000165	MAPK cascade
GO:0001568	blood vessel development
GO:0001649	osteoblast differentiation
GO:0001764	neuron migration
GO:0001782	B cell homeostasis
GO:0001947	heart looping
GO:0001958	endochondral ossification
GO:0001974	blood vessel remodeling
GO:0002062	chondrocyte differentiation
GO:0002224	toll-like receptor signaling pathway
GO:0002467	germinal center formation
GO:0002634	regulation of germinal center formation
GO:0002755	MyD88-dependent toll-like receptor signaling pathway
GO:0002756	MyD88-independent toll-like receptor signaling pathway
GO:0002931	response to ischemia
GO:0003138	primary heart field specification
GO:0003139	secondary heart field specification
GO:0003151	outflow tract morphogenesis
GO:0003185	sinoatrial valve morphogenesis
GO:0003211	cardiac ventricle formation
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0006915	apoptotic process
GO:0006959	humoral immune response
GO:0007399	nervous system development
GO:0007507	heart development
GO:0007517	muscle organ development
GO:0007519	skeletal muscle tissue development
GO:0007521	muscle cell fate determination
GO:0007611	learning or memory
GO:0009615	response to virus
GO:0010628	positive regulation of gene expression
GO:0010629	negative regulation of gene expression
GO:0010694	positive regulation of alkaline phosphatase activity
GO:0014033	neural crest cell differentiation
GO:0014902	myotube differentiation
GO:0030182	neuron differentiation
GO:0030220	platelet formation
GO:0030279	negative regulation of ossification
GO:0030318	melanocyte differentiation
GO:0030501	positive regulation of bone mineralization
GO:0030890	positive regulation of B cell proliferation
GO:0034134	toll-like receptor 2 signaling pathway
GO:0034138	toll-like receptor 3 signaling pathway
GO:0034142	toll-like receptor 4 signaling pathway
GO:0034146	toll-like receptor 5 signaling pathway
GO:0034162	toll-like receptor 9 signaling pathway
GO:0034166	toll-like receptor 10 signaling pathway
GO:0035666	TRIF-dependent toll-like receptor signaling pathway
GO:0035690	cellular response to drug
GO:0035984	cellular response to trichostatin A
GO:0038123	toll-like receptor TLR1:TLR2 signaling pathway
GO:0038124	toll-like receptor TLR6:TLR2 signaling pathway
GO:0042100	B cell proliferation
GO:0042692	muscle cell differentiation
GO:0043406	positive regulation of MAP kinase activity
GO:0043523	regulation of neuron apoptotic process
GO:0043524	negative regulation of neuron apoptotic process
GO:0045087	innate immune response
GO:0045652	regulation of megakaryocyte differentiation
GO:0045663	positive regulation of myoblast differentiation
GO:0045666	positive regulation of neuron differentiation
GO:0045669	positive regulation of osteoblast differentiation
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0046928	regulation of neurotransmitter secretion
GO:0048011	neurotrophin TRK receptor signaling pathway
GO:0048167	regulation of synaptic plasticity
GO:0048643	positive regulation of skeletal muscle tissue development
GO:0048666	neuron development
GO:0048667	cell morphogenesis involved in neuron differentiation
GO:0050853	B cell receptor signaling pathway
GO:0051145	smooth muscle cell differentiation
GO:0051149	positive regulation of muscle cell differentiation
GO:0051403	stress-activated MAPK cascade
GO:0051963	regulation of synapse assembly
GO:0051966	regulation of synaptic transmission, glutamatergic
GO:0055012	ventricular cardiac muscle cell differentiation
GO:0060025	regulation of synaptic activity
GO:0060045	positive regulation of cardiac muscle cell proliferation
GO:0060079	regulation of excitatory postsynaptic membrane potential
GO:0060998	regulation of dendritic spine development
GO:0061333	renal tubule morphogenesis
GO:0071222	cellular response to lipopolysaccharide
GO:0071277	cellular response to calcium ion
GO:0071374	cellular response to parathyroid hormone stimulus
GO:0071498	cellular response to fluid shear stress
GO:0071560	cellular response to transforming growth factor beta stimulus
GO:0072102	glomerulus morphogenesis
GO:0072160	nephron tubule epithelial cell differentiation
GO:0090073	positive regulation of protein homodimerization activity
GO:2000111	positive regulation of macrophage apoptotic process
GO:2000310	regulation of N-methyl-D-aspartate selective glutamate receptor activity
GO:2000311	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity
GO:2000727	positive regulation of cardiac muscle cell differentiation
GO:2000987	positive regulation of behavioral fear response
GO:2001013	epithelial cell proliferation involved in renal tubule morphogenesis
GO:2001016	positive regulation of skeletal muscle cell differentiation