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UniProtKB - Q14814 (MEF2D_HUMAN)

Entry version 194 (10 Feb 2021)
Sequence version 1 (01 Nov 1997)
Previous versions | rss
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Protein

Myocyte-specific enhancer factor 2D

Gene

MEF2D

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

Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT]4TAR-3', found in numerous muscle-specific, growth factor- and stress-induced genes. Mediates cellular functions not only in skeletal and cardiac muscle development, but also in neuronal differentiation and survival. Plays diverse roles in the control of cell growth, survival and apoptosis via p38 MAPK signaling in muscle-specific and/or growth factor-related transcription. Plays a critical role in the regulation of neuronal apoptosis (By similarity).By similarity5 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		Q14814

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-2151201, Transcriptional activation of mitochondrial biogenesis
R-HSA-400253, Circadian Clock
R-HSA-525793, Myogenesis
R-HSA-9031628, NGF-stimulated transcription

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

More...SignaLinki		Q14814

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q14814

<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 2D
<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:MEF2D
<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 1

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:6997, MEF2D

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600663, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q14814

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000116604.17

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

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

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>Mutagenesisi180S → A: Abolishes MAPK7- and EGF-mediated transcriptional activation. 1 Publication1
Mutagenesisi286T → A: Same transcriptional activity as for isoforms with beta domain. 1 Publication1
Mutagenesisi287E → Q: Abolishes transcriptional activity; when associated with N-288 and N-291. 1 Publication1
Mutagenesisi288D → A: Abolishes cleavage by caspase 7. 2 Publications1
Mutagenesisi288D → N: Abolishes transcriptional activity; when associated with Q-287 and N-291. 2 Publications1
Mutagenesisi289H → A: Same transcriptional activity as for isoforms with beta domain. 1 Publication1
Mutagenesisi291D → N: Abolishes transcriptional activity; when associated with Q-287 and N-288. 1 Publication1
Mutagenesisi437S → A: No effect on MAPK7- or EGF-mediated transcriptional activity. 1 Publication1
Mutagenesisi438I → A: Abolishes K-439 sumoylation. 1 Publication1
Mutagenesisi439K → R: Abolishes sumoylation and acetylation. 2 Publications1
Mutagenesisi444S → A: Abolishes K-439 sumoylation. Reduced neurotoxin-induced apoptosis of neuronal cells. More resistant to degradation. 3 Publications1
Mutagenesisi444S → E: No effect on K-439 sumoylation. 3 Publications1

Organism-specific databases

DisGeNET

More...DisGeNETi		4209

Open Targets

More...OpenTargetsi		ENSG00000116604

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA30735

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q14814, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MEF2D

Domain mapping of disease mutations (DMDM)

More...DMDMi		2500876

<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_00001994351 – 521Myocyte-specific enhancer factor 2DAdd BLAST521

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 residuei98PhosphoserineBy similarity1
Modified residuei106PhosphoserineBy similarity1
Modified residuei110PhosphoserineBy similarity1
Modified residuei121Phosphoserine; by PKACombined sources1 Publication1
Modified residuei180Phosphoserine; by MAPK7Combined sources1 Publication1
Modified residuei190Phosphoserine; by PKABy similarity1
Modified residuei231PhosphoserineCombined sources1
Modified residuei245N6-acetyllysineCombined sources1
Modified residuei251PhosphoserineCombined sources1
Modified residuei439N6-acetyllysine; alternate1 Publication1
<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-linki439Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO); alternate
Modified residuei444Phosphoserine3 Publications1

<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

Phosphorylated on Ser-444 by CDK5 is required for Lys-439 sumoylation and inhibits transcriptional activity. In neurons, enhanced CDK5 activity induced by neurotoxins promotes caspase 3-mediated cleavage leading to neuron apoptosis. Phosphorylation on Ser-180 can be enhanced by EGF. Phosphorylated and activated by CaMK4.8 Publications
Acetylated on Lys-439 by CREBBP. Acetylated by EP300. Deacetylated by SIRT1 and HDAC3.3 Publications
Sumoylated on Lys-439 with SUMO2 but not SUMO1; which inhibits transcriptional activity and myogenic activity. Desumoylated by SENP3.3 Publications
Proteolytically cleaved in cerebellar granule neurons on several sites by caspase 7 following neurotoxicity. Preferentially cleaves the CDK5-mediated hyperphosphorylated form which leads to neuron apoptosis and transcriptional inactivation (By similarity).By similarity

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>Sitei288 – 289CleavageCurated2

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q14814

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q14814

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q14814

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q14814

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q14814

PeptideAtlas

More...PeptideAtlasi		Q14814

PRoteomics IDEntifications database

More...PRIDEi		Q14814

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		60190 [Q14814-1]
60191 [Q14814-2]
60192 [Q14814-3]
60193 [Q14814-4]
60194 [Q14814-5]
60195 [Q14814-6]

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		2862, 1 O-Linked glycan (1 site)

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q14814, 5 sites, 1 O-linked glycan (5 sites)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q14814

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

More...PhosphoSitePlusi		Q14814

<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 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

Present in myotubes and also in undifferentiated myoblasts.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000116604, Expressed in gastrocnemius and 233 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q14814, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q14814, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000116604, Tissue enhanced (skeletal)

<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

Interacts with MYOG (By similarity).

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 HDAC4 (in undifferentiating cells); the interaction translocates MEF2D to nuclear dots.

Forms a heterodimer with MEF2A.

Interacts with MAPK7; the interaction phosphorylates but does not activate MEF2D (By similarity).

Interacts with CCAR2 and HDAC3.

By similarity2 Publications

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		110373, 41 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		Q14814

Protein interaction database and analysis system

More...IntActi		Q14814, 13 interactors

Molecular INTeraction database

More...MINTi		Q14814

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000271555

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q14814

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q14814, 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		Q14814

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>Regioni286 – 292Beta domain7

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 amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi3 – 31Arg/Lys-rich (basic)Add BLAST29
Compositional biasi252 – 255Poly-Pro4
Compositional biasi365 – 404Gln/Pro-richAdd BLAST40
Compositional biasi451 – 456Poly-Pro6

<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.

<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		ENSGT00940000159463

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_022902_4_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q14814

Identification of Orthologs from Complete Genome Data

More...OMAi		NADIIEX

Database of Orthologous Groups

More...OrthoDBi		729387at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q14814

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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 6 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform MEF2DAB (identifier: Q14814-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><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
MGRKKIQIQR ITDERNRQVT FTKRKFGLMK KAYELSVLCD CEIALIIFNH 
        60         70         80         90        100
SNKLFQYAST DMDKVLLKYT EYNEPHESRT NADIIETLRK KGFNGCDSPE 
       110        120        130        140        150
PDGEDSLEQS PLLEDKYRRA SEELDGLFRR YGSTVPAPNF AMPVTVPVSN 
       160        170        180        190        200
QSSLQFSNPS GSLVTPSLVT SSLTDPRLLS PQQPALQRNS VSPGLPQRPA 
       210        220        230        240        250
SAGAMLGGDL NSANGACPSP VGNGYVSARA SPGLLPVANG NSLNKVIPAK 
       260        270        280        290        300
SPPPPTHSTQ LGAPSRKPDL RVITSQAGKG LMHHLTEDHL DLNNAQRLGV 
       310        320        330        340        350
SQSTHSLTTP VVSVATPSLL SQGLPFSSMP TAYNTDYQLT SAELSSLPAF 
       360        370        380        390        400
SSPGGLSLGN VTAWQQPQQP QQPQQPQPPQ QQPPQPQQPQ PQQPQQPQQP 
       410        420        430        440        450
PQQQSHLVPV SLSNLIPGSP LPHVGAALTV TTHPHISIKS EPVSPSRERS 
       460        470        480        490        500
PAPPPPAVFP AARPEPGDGL SSPAGGSYET GDRDDGRGDF GPTLGLLRPA 
       510        520 
PEPEAEGSAV KRMRLDTWTL K
Length:521
Mass (Da):55,938
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:i5C9790AD598619BA
GO
Isoform MEF2DA'B (identifier: Q14814-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     87-132: TLRKKGFNGC...ELDGLFRRYG → ALHKKHRECE...DKMMQSYRLA

Show »
Length:520
Mass (Da):56,091
Checksum:i9B39CB2A3570EB74
GO
Isoform MEF2D0B (identifier: Q14814-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     87-132: Missing.

Show »
Length:475
Mass (Da):50,680
Checksum:iBCA6D1EF6885A467
GO
Isoform MEF2DA0 (identifier: Q14814-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     286-292: Missing.

Show »
Length:514
Mass (Da):55,114
Checksum:i425430A7A0F69549
GO
Isoform MEF2DA'0 (identifier: Q14814-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     87-132: TLRKKGFNGC...ELDGLFRRYG → ALHKKHRECE...DKMMQSYRLA
     286-292: Missing.

Show »
Length:513
Mass (Da):55,267
Checksum:i2CC3FD705A1C8D1F
GO
Isoform MEF2D00 (identifier: Q14814-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     87-132: Missing.
     286-292: Missing.

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Length:468
Mass (Da):49,856
Checksum:iBFFEBF282D6519F7
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q05BX2Q05BX2_HUMAN
MEF2D protein
MEF2D
139Annotation score:

Annotation score:1 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>
A0A0G2JLL8A0A0G2JLL8_HUMAN
Myocyte-specific enhancer factor 2D
MEF2D
10Annotation score:

Annotation score:1 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>

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_022155434P → S. Corresponds to variant dbSNP:rs2274315Ensembl.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_00625187 – 132Missing in isoform MEF2D0B and isoform MEF2D00. 1 PublicationAdd BLAST46
Alternative sequenceiVSP_00625087 – 132TLRKK…FRRYG → ALHKKHRECESPEVDEVFAL TPQTEEKYKKIDEEFDKMMQ SYRLA in isoform MEF2DA'B and isoform MEF2DA'0. 1 PublicationAdd BLAST46
Alternative sequenceiVSP_006252286 – 292Missing in isoform MEF2DA0, isoform MEF2DA'0 and isoform MEF2D00. 2 Publications7

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
L16794 mRNA Translation: AAA93194.1
L16795 Genomic DNA Translation: AAA59579.1
AL139412 Genomic DNA No translation available.
CH471121 Genomic DNA Translation: EAW52948.1
CH471121 Genomic DNA Translation: EAW52952.1
BC040949 mRNA Translation: AAH40949.1
BC054520 mRNA Translation: AAH54520.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS1143.1 [Q14814-1]
CCDS60304.1 [Q14814-4]

Protein sequence database of the Protein Information Resource

More...PIRi		I53124

NCBI Reference Sequences

More...RefSeqi		NP_001258558.1, NM_001271629.1 [Q14814-4]
NP_005911.1, NM_005920.3 [Q14814-1]
XP_005245226.1, XM_005245169.4 [Q14814-1]
XP_005245227.1, XM_005245170.3 [Q14814-1]
XP_006711393.1, XM_006711330.3 [Q14814-1]
XP_006711395.1, XM_006711332.3 [Q14814-2]
XP_006711396.1, XM_006711333.2 [Q14814-4]
XP_006711397.1, XM_006711334.3 [Q14814-5]
XP_011507871.1, XM_011509569.2 [Q14814-1]
XP_016856803.1, XM_017001314.1 [Q14814-4]
XP_016856804.1, XM_017001315.1 [Q14814-4]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000348159; ENSP00000271555; ENSG00000116604 [Q14814-1]
ENST00000360595; ENSP00000353803; ENSG00000116604 [Q14814-4]
ENST00000464356; ENSP00000476788; ENSG00000116604 [Q14814-5]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		4209

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:4209

UCSC genome browser

More...UCSCi		uc001fpb.5, human [Q14814-1]

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L16794 mRNA Translation: AAA93194.1
L16795 Genomic DNA Translation: AAA59579.1
AL139412 Genomic DNA No translation available.
CH471121 Genomic DNA Translation: EAW52948.1
CH471121 Genomic DNA Translation: EAW52952.1
BC040949 mRNA Translation: AAH40949.1
BC054520 mRNA Translation: AAH54520.1
CCDSiCCDS1143.1 [Q14814-1]
CCDS60304.1 [Q14814-4]
PIRiI53124
RefSeqiNP_001258558.1, NM_001271629.1 [Q14814-4]
NP_005911.1, NM_005920.3 [Q14814-1]
XP_005245226.1, XM_005245169.4 [Q14814-1]
XP_005245227.1, XM_005245170.3 [Q14814-1]
XP_006711393.1, XM_006711330.3 [Q14814-1]
XP_006711395.1, XM_006711332.3 [Q14814-2]
XP_006711396.1, XM_006711333.2 [Q14814-4]
XP_006711397.1, XM_006711334.3 [Q14814-5]
XP_011507871.1, XM_011509569.2 [Q14814-1]
XP_016856803.1, XM_017001314.1 [Q14814-4]
XP_016856804.1, XM_017001315.1 [Q14814-4]

3D structure databases

SMRiQ14814
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi110373, 41 interactors
ELMiQ14814
IntActiQ14814, 13 interactors
MINTiQ14814
STRINGi9606.ENSP00000271555

Chemistry databases

BindingDBiQ14814

PTM databases

GlyConnecti2862, 1 O-Linked glycan (1 site)
GlyGeniQ14814, 5 sites, 1 O-linked glycan (5 sites)
iPTMnetiQ14814
PhosphoSitePlusiQ14814

Genetic variation databases

BioMutaiMEF2D
DMDMi2500876

Proteomic databases

EPDiQ14814
jPOSTiQ14814
MassIVEiQ14814
MaxQBiQ14814
PaxDbiQ14814
PeptideAtlasiQ14814
PRIDEiQ14814
ProteomicsDBi60190 [Q14814-1]
60191 [Q14814-2]
60192 [Q14814-3]
60193 [Q14814-4]
60194 [Q14814-5]
60195 [Q14814-6]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		1437, 458 antibodies

Genome annotation databases

EnsembliENST00000348159; ENSP00000271555; ENSG00000116604 [Q14814-1]
ENST00000360595; ENSP00000353803; ENSG00000116604 [Q14814-4]
ENST00000464356; ENSP00000476788; ENSG00000116604 [Q14814-5]
GeneIDi4209
KEGGihsa:4209
UCSCiuc001fpb.5, human [Q14814-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		4209
DisGeNETi4209

GeneCards: human genes, protein and diseases

More...GeneCardsi		MEF2D
HGNCiHGNC:6997, MEF2D
HPAiENSG00000116604, Tissue enhanced (skeletal)
MIMi600663, gene
neXtProtiNX_Q14814
OpenTargetsiENSG00000116604
PharmGKBiPA30735
VEuPathDBiHostDB:ENSG00000116604.17

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0014, Eukaryota
GeneTreeiENSGT00940000159463
HOGENOMiCLU_022902_4_0_1
InParanoidiQ14814
OMAiNADIIEX
OrthoDBi729387at2759
PhylomeDBiQ14814
TreeFamiTF314067

Enzyme and pathway databases

PathwayCommonsiQ14814
ReactomeiR-HSA-2151201, Transcriptional activation of mitochondrial biogenesis
R-HSA-400253, Circadian Clock
R-HSA-525793, Myogenesis
R-HSA-9031628, NGF-stimulated transcription
SignaLinkiQ14814
SIGNORiQ14814

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		4209, 35 hits in 897 CRISPR screens

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

More...ChiTaRSi		MEF2D, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		MEF2D

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

More...GenomeRNAii		4209
PharosiQ14814, Tbio

Protein Ontology

More...PROi		PR:Q14814
RNActiQ14814, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000116604, Expressed in gastrocnemius and 233 other tissues
ExpressionAtlasiQ14814, baseline and differential
GenevisibleiQ14814, 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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

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 nameiMEF2D_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: Q14814
Secondary accession number(s): D3DVC0
, Q14815, Q5T9U5, Q5T9U6
<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 10, 2021
This is version 194 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 variants curated from literature reports
    Index of human variants curated from literature reports
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  5. Human entries with genetic variants
    List of human entries with genetic variants
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