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UniProtKB - Q06413 (MEF2C_HUMAN)

Entry version 199 (23 Feb 2022)
Sequence version 1 (01 Nov 1997)
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Protein

Myocyte-specific enhancer factor 2C

Gene

MEF2C

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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. Enhances transcriptional activation mediated by SOX18. 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).

Isoforms that lack the repressor domain are more active than isoform 1.

By similarity6 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi58 – 86Mef2-typeSequence analysisAdd BLAST29

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator, Developmental protein, DNA-binding
Biological processApoptosis, Differentiation, Neurogenesis, Transcription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q06413

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-198753, ERK/MAPK targets
R-HSA-2151201, Transcriptional activation of mitochondrial biogenesis
R-HSA-400253, Circadian Clock
R-HSA-525793, Myogenesis
R-HSA-9022707, MECP2 regulates transcription factors
R-HSA-9707616, Heme signaling

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q06413

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q06413

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Myocyte-specific enhancer factor 2CCurated
Alternative name(s):
Myocyte enhancer factor 2CImported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MEF2CImported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 5

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:6996, MEF2C

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600662, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q06413

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000081189

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cytoplasm, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Mental retardation, autosomal dominant 20 (MRD20)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi116K → R: Reduced acetylation. Further reduction in acetylation; when associated with R-119. Complete loss of acetylation, 15% less transactivation activity and slightly reduced DNA binding; when associated with R-119; R-234; R-239; R-252 and R-262. 1 Publication1
Mutagenesisi119K → R: Reduced acetylation. Further reduction in acetylation; when associated with R-119. Complete loss of acetylation, 15% less transactivation activity and slightly reduced DNA binding; when associated with R-116; R-234; R-239; R-252 and R-262. 1 Publication1
Mutagenesisi234K → R: Reduced acetylation. Complete loss of acetylation, 15% less transactivation activity and slightly reduced DNA binding; when associated with R-116; R-119; R-239; R-252 and R-264. 1 Publication1
Mutagenesisi239K → R: Reduced acetylation. Complete loss of acetylation, 15% less transactivation activity and slightly reduced DNA binding; when associated with R-116; R-119; R-234; R-252 and R-264. 1 Publication1
Mutagenesisi252K → R: Reduced acetylation. Complete loss of acetylation, 15% less transactivation activity and slightly reduced DNA binding; when associated with R-116; R-119; R-234; R-239 and R-264. 1 Publication1
Mutagenesisi264K → R: Reduced acetylation. Complete loss of acetylation, 15% less transactivation activity and slightly reduced DNA binding; when associated with R-116; R-119; R-234; R-239 and R-252. 1 Publication1
Mutagenesisi271S → A: No effect on transcriptional activation. 1 Publication1
Mutagenesisi272E → Q: Reduced transcriptional activation. Completely abolishes transcriptional activation; when associated with N-273 and N-275. 1 Publication1
Mutagenesisi273D → N: Reduced transcriptional activation. Completely abolishes transcriptional activation; when associated with Q-272 and N-275. 1 Publication1
Mutagenesisi275D → N: Reduced transcriptional activation. Completely abolishes transcriptional activation; when associated with Q-272 and N-273. 1 Publication1
Mutagenesisi293T → A: Abolishes MAPK14-mediated phosphorylation. No effect on MAPK7-mediated phosphorylation; when associated with A-300. 2 Publications1
Mutagenesisi300T → A: Abolishes MAPK14-mediated phosphorylation. No effect on MAPK7-mediated phosphorylation; when associated with A-293. 2 Publications1
Mutagenesisi387S → A: No change in transactivational activation for isoforms with or without the beta domain. 1 Publication1
Mutagenesisi391K → R: Abolishes sumoylation. 1 Publication1
Mutagenesisi396S → A or C: Abolishes sumoylation. Enhanced transcriptional activity. 3 Publications1
Mutagenesisi396S → A: No change in transactivational activation for isoforms with or without the beta domain. 3 Publications1
Mutagenesisi396S → E: No effect on sumoylation. No effect on transcriptional activity. 3 Publications1
Mutagenesisi419S → A: No effect on MAPK14-mediated phosphorylation. Abolishes MAPK7-mediated phosphorylation and reduces transactivation activity. 2 Publications1
Mutagenesisi432D → A: Abolishes cleavage by caspase 7. 1 Publication1

Keywords - Diseasei

Disease variant, Epilepsy, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		4208

MalaCards human disease database

More...MalaCardsi		MEF2C
MIMi613443, phenotype

Open Targets

More...OpenTargetsi		ENSG00000081189

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		228384, 5q14.3 microdeletion syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA30734

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q06413, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MEF2C

Domain mapping of disease mutations (DMDM)

More...DMDMi		2500875

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001994331 – 473Myocyte-specific enhancer factor 2CAdd BLAST473

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei4N6-acetyllysineBy similarity1
Modified residuei59Phosphoserine; by CK2By similarity1
Modified residuei98PhosphoserineBy similarity1
Modified residuei106PhosphoserineBy similarity1
Modified residuei110PhosphoserineBy similarity1
Modified residuei116N6-acetyllysine1 Publication1
Modified residuei119N6-acetyllysine1 Publication1
Modified residuei222PhosphoserineCombined sources1
Modified residuei228PhosphoserineCombined sources1
Modified residuei234N6-acetyllysine1 Publication1
Modified residuei239N6-acetyllysine1 Publication1
Modified residuei240PhosphoserineCombined sources1
Modified residuei252N6-acetyllysine1 Publication1
Modified residuei264N6-acetyllysine1 Publication1
Modified residuei293Phosphothreonine; by MAPK142 Publications1
Modified residuei300Phosphothreonine; by MAPK142 Publications1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki391Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)2 Publications
Modified residuei396Phosphoserine; by CDK51 Publication1
Modified residuei419Phosphoserine; by MAPK72 Publications1
Modified residuei445PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylation on Ser-59 enhances DNA binding activity (By similarity). Phosphorylation on Ser-396 is required for Lys-391 sumoylation and inhibits transcriptional activity.By similarity7 Publications
Acetylated by p300 on several sites in diffentiating myocytes. Acetylation on Lys-4 increases DNA binding and transactivation (By similarity).By similarity
Sumoylated on Lys-391 with SUMO2 but not by SUMO1 represses transcriptional activity.3 Publications
Proteolytically cleaved in cerebellar granule neurons, probably by caspase 7, following neurotoxicity. Preferentially cleaves the CDK5-mediated hyperphosphorylated form which leads to neuron apoptosis and transcriptional inactivation.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei432 – 433CleavageCurated2

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q06413

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q06413

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q06413

PeptideAtlas

More...PeptideAtlasi		Q06413

PRoteomics IDEntifications database

More...PRIDEi		Q06413

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		10911
30019
58439 [Q06413-1]
58440 [Q06413-2]
58441 [Q06413-3]
58442 [Q06413-4]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q06413, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q06413

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q06413

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in brain and skeletal muscle.1 Publication

<p>This subsection of the 'Expression' section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expression is highest during the early stages of postnatal development, at later stages levels greatly decrease.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000081189, Expressed in middle temporal gyrus and 242 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q06413, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q06413, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000081189, Group enriched (skeletal muscle, tongue)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Forms a complex with class II HDACs in undifferentiating cells. On myogenic differentiation, HDACs are released into the cytoplasm allowing MEF2s to interact with other proteins for activation.

Interacts with EP300 in differentiating cells; the interaction acetylates MEF2C leading to increased DNA binding and activation (By similarity).

Interacts with HDAC7 and CARM1 (By similarity).

Interacts with HDAC4 and HDAC9; the interaction with HDACs represses transcriptional activity (PubMed:10523670, PubMed:11535832).

Interacts with LPIN1.

Interacts with MYOCD.

Interacts with AKAP13 (By similarity).

Interacts with FOXK1; the interaction inhibits MEF2C transactivation activity (By similarity).

Interacts (via N-terminus) with HABP4; this interaction decreases DNA-binding activity of MEF2C in myocardial cells in response to mechanical stress (PubMed:15862299).

Interacts with JPH2; interaction specifically takes place with the Junctophilin-2 N-terminal fragment cleavage product of JPH2 (By similarity).

Interacts (via MADS box) with SOX18 (By similarity).

By similarity3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		110372, 32 interactors

Database of interacting proteins

More...DIPi		DIP-40857N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		Q06413

Protein interaction database and analysis system

More...IntActi		Q06413, 26 interactors

Molecular INTeraction database

More...MINTi		Q06413

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000340874

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q06413, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q06413

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini3 – 57MADS-boxPROSITE-ProRule annotationAdd BLAST55

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni91 – 116DisorderedSequence analysisAdd BLAST26
Regioni180 – 224DisorderedSequence analysisAdd BLAST45
Regioni271 – 278Beta domain8
Regioni368 – 399Transcription repressorAdd BLAST32
Regioni375 – 473DisorderedSequence analysisAdd BLAST99

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi93 – 116Basic and acidic residuesSequence analysisAdd BLAST24
Compositional biasi375 – 405Polar residuesSequence analysisAdd BLAST31

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The beta domain, missing in a number of isoforms, is required for enhancement of transcriptional activity.By similarity

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the MEF2 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0014, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157492

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q06413

Identification of Orthologs from Complete Genome Data

More...OMAi		RITEGWA

Database of Orthologous Groups

More...OrthoDBi		729387at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q06413

TreeFam database of animal gene trees

More...TreeFami		TF314067

Family and domain databases

Conserved Domains Database

More...CDDi		cd00265, MADS_MEF2_like, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.40.1810.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR022102, HJURP_C
IPR033896, MADS_MEF2-like
IPR002100, TF_MADSbox
IPR036879, TF_MADSbox_sf

Pfam protein domain database

More...Pfami		View protein in Pfam
PF12347, HJURP_C, 1 hit
PF00319, SRF-TF, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00404, MADSDOMAIN

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00432, MADS, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF55455, SSF55455, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00350, MADS_BOX_1, 1 hit
PS50066, MADS_BOX_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (6+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 6 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 6 described isoforms and 20 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q06413-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGRKKIQITR IMDERNRQVT FTKRKFGLMK KAYELSVLCD CEIALIIFNS 
        60         70         80         90        100
TNKLFQYAST DMDKVLLKYT EYNEPHESRT NSDIVETLRK KGLNGCDSPD 
       110        120        130        140        150
PDADDSVGHS PESEDKYRKI NEDIDLMISR QRLCAVPPPN FEMPVSIPVS 
       160        170        180        190        200
SHNSLVYSNP VSSLGNPNLL PLAHPSLQRN SMSPGVTHRP PSAGNTGGLM 
       210        220        230        240        250
GGDLTSGAGT SAGNGYGNPR NSPGLLVSPG NLNKNMQAKS PPPMNLGMNN 
       260        270        280        290        300
RKPDLRVLIP PGSKNTMPSV SEDVDLLLNQ RINNSQSAQS LATPVVSVAT 
       310        320        330        340        350
PTLPGQGMGG YPSAISTTYG TEYSLSSADL SSLSGFNTAS ALHLGSVTGW 
       360        370        380        390        400
QQQHLHNMPP SALSQLGACT STHLSQSSNL SLPSTQSLNI KSEPVSPPRD 
       410        420        430        440        450
RTTTPSRYPQ HTRHEAGRSP VDSLSSCSSS YDGSDREDHR NEFHSPIGLT 
       460        470 
RPSPDERESP SVKRMRLSEG WAT
Length:473
Mass (Da):51,221
Last modified:November 1, 1997 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iA7982020BB8C8949
GO
Isoform 2 (identifier: Q06413-2) [UniParc]FASTAAdd to basket
Also known as: Muscle

The sequence of this isoform differs from the canonical sequence as follows:
     271-278: Missing.

Show »
Length:465
Mass (Da):50,336
Checksum:iA2059C6AACB2F07B
GO
Isoform 3 (identifier: Q06413-3) [UniParc]FASTAAdd to basket
Also known as: hMEF2C-delta32, Brain

The sequence of this isoform differs from the canonical sequence as follows:
     368-399: Missing.

Show »
Length:441
Mass (Da):47,872
Checksum:iBF94FD79A54FEEB1
GO
Isoform 4 (identifier: Q06413-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     87-134: Missing.
     271-278: Missing.

Show »
Length:417
Mass (Da):44,935
Checksum:i35B8B495FAB6FA3C
GO
Isoform 5 (identifier: Q06413-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     107-134: VGHSPESEDKYRKINEDIDLMISRQRLC → ALNKKENKGCESPDPDSSYALTPRTEEKYKKINEEFDNMIKSHKIP
     271-278: Missing.

Show »
Length:483
Mass (Da):52,328
Checksum:i54ECDC4D04211C48
GO
Isoform 6 (identifier: Q06413-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     87-134: TLRKKGLNGC...DLMISRQRLC → ALNKKENKGC...DNMIKSHKIP
     271-278: Missing.

Show »
Length:463
Mass (Da):50,242
Checksum:iB78282622DC98CE5
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 20 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0D9SGI5A0A0D9SGI5_HUMAN
Myocyte-specific enhancer factor 2C
MEF2C
471Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RJG6D6RJG6_HUMAN
Myocyte-specific enhancer factor 2C
MEF2C
399Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0R4J2G5A0A0R4J2G5_HUMAN
Myocyte-specific enhancer factor 2C
MEF2C
433Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SFD0A0A0D9SFD0_HUMAN
MADS box transcription enhancer fac...
MEF2C hCG_36839
431Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GV32A0A1B0GV32_HUMAN
Myocyte-specific enhancer factor 2C
MEF2C
462Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D8L7E9D8L7E9_HUMAN
Myocyte enhancer factor 2c
MEF2C
393Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RCM6D6RCM6_HUMAN
Myocyte-specific enhancer factor 2C
MEF2C
129Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RG21D6RG21_HUMAN
Myocyte-specific enhancer factor 2C
MEF2C
126Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RJA7D6RJA7_HUMAN
Myocyte-specific enhancer factor 2C
MEF2C
194Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6R942D6R942_HUMAN
Myocyte-specific enhancer factor 2C
MEF2C
227Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti390I → T in AL833268 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07822836S → R Probable disease-associated variant found in a patient with infantile onset epileptic encephalopathy and autism spectrum disorder. 1 Publication1
Natural variantiVAR_07862139C → R Probable disease-associated variant found in a patient with infantile onset epileptic encephalopathy and autism spectrum disorder. 1 PublicationCorresponds to variant dbSNP:rs796052729EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_04333987 – 134Missing in isoform 4. 1 PublicationAdd BLAST48
Alternative sequenceiVSP_04625187 – 134TLRKK…RQRLC → ALNKKENKGCESPDPDSSYA LTPRTEEKYKKINEEFDNMI KSHKIP in isoform 6. 1 PublicationAdd BLAST48
Alternative sequenceiVSP_045478107 – 134VGHSP…RQRLC → ALNKKENKGCESPDPDSSYA LTPRTEEKYKKINEEFDNMI KSHKIP in isoform 5. 1 PublicationAdd BLAST28
Alternative sequenceiVSP_006248271 – 278Missing in isoform 2, isoform 4, isoform 5 and isoform 6. 4 Publications8
Alternative sequenceiVSP_006249368 – 399Missing in isoform 3. 1 PublicationAdd BLAST32

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
L08895 mRNA Translation: AAA59578.1
S57212 mRNA Translation: AAB25838.1
FM163484 mRNA Translation: CAQ57795.2
AL833268 mRNA No translation available.
AL833274 mRNA No translation available.
AC008525 Genomic DNA No translation available.
AC008835 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS47244.1 [Q06413-6]
CCDS47245.1 [Q06413-1]
CCDS54877.1 [Q06413-4]
CCDS54878.1 [Q06413-5]
CCDS78034.1 [Q06413-2]
CCDS87313.1 [Q06413-3]

Protein sequence database of the Protein Information Resource

More...PIRi		A47284

NCBI Reference Sequences

More...RefSeqi		NP_001124477.1, NM_001131005.2 [Q06413-6]
NP_001180276.1, NM_001193347.1 [Q06413-5]
NP_001180277.1, NM_001193348.1 [Q06413-4]
NP_001180278.1, NM_001193349.1
NP_001180279.1, NM_001193350.1 [Q06413-1]
NP_001294931.1, NM_001308002.1 [Q06413-2]
NP_002388.2, NM_002397.4 [Q06413-1]
XP_005248568.1, XM_005248511.2 [Q06413-1]
XP_006714682.1, XM_006714619.2
XP_006714688.1, XM_006714625.3 [Q06413-5]
XP_011541698.1, XM_011543396.2 [Q06413-1]
XP_011541702.1, XM_011543400.1
XP_016864965.1, XM_017009476.1
XP_016864966.1, XM_017009477.1
XP_016864967.1, XM_017009478.1 [Q06413-6]
XP_016864968.1, XM_017009479.1
XP_016864969.1, XM_017009480.1
XP_016864970.1, XM_017009481.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000340208; ENSP00000340874; ENSG00000081189 [Q06413-5]
ENST00000424173; ENSP00000389610; ENSG00000081189 [Q06413-6]
ENST00000437473; ENSP00000396219; ENSG00000081189
ENST00000504921; ENSP00000421925; ENSG00000081189
ENST00000508569; ENSP00000423597; ENSG00000081189 [Q06413-2]
ENST00000514015; ENSP00000424606; ENSG00000081189 [Q06413-3]
ENST00000514028; ENSP00000426665; ENSG00000081189 [Q06413-3]
ENST00000625674; ENSP00000487430; ENSG00000081189 [Q06413-6]
ENST00000628656; ENSP00000487311; ENSG00000081189 [Q06413-4]
ENST00000629612; ENSP00000486554; ENSG00000081189 [Q06413-2]
ENST00000636294; ENSP00000490473; ENSG00000081189
ENST00000636998; ENSP00000490630; ENSG00000081189 [Q06413-3]
ENST00000637732; ENSP00000490241; ENSG00000081189 [Q06413-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		4208

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:4208

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000504921.7; ENSP00000421925.5; NM_002397.5; NP_002388.2

UCSC genome browser

More...UCSCi		uc003kjj.4, human [Q06413-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L08895 mRNA Translation: AAA59578.1
S57212 mRNA Translation: AAB25838.1
FM163484 mRNA Translation: CAQ57795.2
AL833268 mRNA No translation available.
AL833274 mRNA No translation available.
AC008525 Genomic DNA No translation available.
AC008835 Genomic DNA No translation available.
CCDSiCCDS47244.1 [Q06413-6]
CCDS47245.1 [Q06413-1]
CCDS54877.1 [Q06413-4]
CCDS54878.1 [Q06413-5]
CCDS78034.1 [Q06413-2]
CCDS87313.1 [Q06413-3]
PIRiA47284
RefSeqiNP_001124477.1, NM_001131005.2 [Q06413-6]
NP_001180276.1, NM_001193347.1 [Q06413-5]
NP_001180277.1, NM_001193348.1 [Q06413-4]
NP_001180278.1, NM_001193349.1
NP_001180279.1, NM_001193350.1 [Q06413-1]
NP_001294931.1, NM_001308002.1 [Q06413-2]
NP_002388.2, NM_002397.4 [Q06413-1]
XP_005248568.1, XM_005248511.2 [Q06413-1]
XP_006714682.1, XM_006714619.2
XP_006714688.1, XM_006714625.3 [Q06413-5]
XP_011541698.1, XM_011543396.2 [Q06413-1]
XP_011541702.1, XM_011543400.1
XP_016864965.1, XM_017009476.1
XP_016864966.1, XM_017009477.1
XP_016864967.1, XM_017009478.1 [Q06413-6]
XP_016864968.1, XM_017009479.1
XP_016864969.1, XM_017009480.1
XP_016864970.1, XM_017009481.1

3D structure databases

SMRiQ06413
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi110372, 32 interactors
DIPiDIP-40857N
ELMiQ06413
IntActiQ06413, 26 interactors
MINTiQ06413
STRINGi9606.ENSP00000340874

PTM databases

GlyGeniQ06413, 1 site, 1 O-linked glycan (1 site)
iPTMnetiQ06413
PhosphoSitePlusiQ06413

Genetic variation databases

BioMutaiMEF2C
DMDMi2500875

Proteomic databases

jPOSTiQ06413
MassIVEiQ06413
MaxQBiQ06413
PeptideAtlasiQ06413
PRIDEiQ06413
ProteomicsDBi10911
30019
58439 [Q06413-1]
58440 [Q06413-2]
58441 [Q06413-3]
58442 [Q06413-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		755, 1307 antibodies from 36 providers

The DNASU plasmid repository

More...DNASUi		4208

Genome annotation databases

EnsembliENST00000340208; ENSP00000340874; ENSG00000081189 [Q06413-5]
ENST00000424173; ENSP00000389610; ENSG00000081189 [Q06413-6]
ENST00000437473; ENSP00000396219; ENSG00000081189
ENST00000504921; ENSP00000421925; ENSG00000081189
ENST00000508569; ENSP00000423597; ENSG00000081189 [Q06413-2]
ENST00000514015; ENSP00000424606; ENSG00000081189 [Q06413-3]
ENST00000514028; ENSP00000426665; ENSG00000081189 [Q06413-3]
ENST00000625674; ENSP00000487430; ENSG00000081189 [Q06413-6]
ENST00000628656; ENSP00000487311; ENSG00000081189 [Q06413-4]
ENST00000629612; ENSP00000486554; ENSG00000081189 [Q06413-2]
ENST00000636294; ENSP00000490473; ENSG00000081189
ENST00000636998; ENSP00000490630; ENSG00000081189 [Q06413-3]
ENST00000637732; ENSP00000490241; ENSG00000081189 [Q06413-3]
GeneIDi4208
KEGGihsa:4208
MANE-SelectiENST00000504921.7; ENSP00000421925.5; NM_002397.5; NP_002388.2
UCSCiuc003kjj.4, human [Q06413-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		4208
DisGeNETi4208

GeneCards: human genes, protein and diseases

More...GeneCardsi		MEF2C
HGNCiHGNC:6996, MEF2C
HPAiENSG00000081189, Group enriched (skeletal muscle, tongue)
MalaCardsiMEF2C
MIMi600662, gene
613443, phenotype
neXtProtiNX_Q06413
OpenTargetsiENSG00000081189
Orphaneti228384, 5q14.3 microdeletion syndrome
PharmGKBiPA30734
VEuPathDBiHostDB:ENSG00000081189

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0014, Eukaryota
GeneTreeiENSGT00940000157492
InParanoidiQ06413
OMAiRITEGWA
OrthoDBi729387at2759
PhylomeDBiQ06413
TreeFamiTF314067

Enzyme and pathway databases

PathwayCommonsiQ06413
ReactomeiR-HSA-198753, ERK/MAPK targets
R-HSA-2151201, Transcriptional activation of mitochondrial biogenesis
R-HSA-400253, Circadian Clock
R-HSA-525793, Myogenesis
R-HSA-9022707, MECP2 regulates transcription factors
R-HSA-9707616, Heme signaling
SignaLinkiQ06413
SIGNORiQ06413

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		4208, 31 hits in 1069 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		MEF2C, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		MEF2C

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		4208
PharosiQ06413, Tbio

Protein Ontology

More...PROi		PR:Q06413
RNActiQ06413, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000081189, Expressed in middle temporal gyrus and 242 other tissues
ExpressionAtlasiQ06413, baseline and differential
GenevisibleiQ06413, HS

Family and domain databases

CDDicd00265, MADS_MEF2_like, 1 hit
Gene3Di3.40.1810.10, 1 hit
InterProiView protein in InterPro
IPR022102, HJURP_C
IPR033896, MADS_MEF2-like
IPR002100, TF_MADSbox
IPR036879, TF_MADSbox_sf
PfamiView protein in Pfam
PF12347, HJURP_C, 1 hit
PF00319, SRF-TF, 1 hit
PRINTSiPR00404, MADSDOMAIN
SMARTiView protein in SMART
SM00432, MADS, 1 hit
SUPFAMiSSF55455, SSF55455, 1 hit
PROSITEiView protein in PROSITE
PS00350, MADS_BOX_1, 1 hit
PS50066, MADS_BOX_2, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMEF2C_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q06413
Secondary accession number(s): C9JMZ0, D7F7N5, F8W7V7
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: February 23, 2022
This is version 199 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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