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Entry version 186 (16 Oct 2019)
Sequence version 1 (01 Nov 1997)
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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_section">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

GO - Biological processi

<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

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

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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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)

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MIMi
600663 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q14814

<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_and_biotech_section">'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

Polymorphism and mutation 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.<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_processing_section">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_processing_section">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

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PRIDEi
Q14814

ProteomicsDB: a multi-organism proteome resource

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

PTM databases

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

Miscellaneous databases

CutDB - Proteolytic event database

More...
PMAP-CutDBi
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 221 organ(s), highest expression level in gastrocnemius

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
HPA004807
HPA007114

<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_section">'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_section">'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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
110373, 39 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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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

<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_and_domains_section">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

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eggNOGi
KOG0014 Eukaryota
COG5068 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000159463

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q14814

KEGG Orthology (KO)

More...
KOi
K09262

Identification of Orthologs from Complete Genome Data

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OMAi
TFPHQPR

Database of Orthologous Groups

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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

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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_length">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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

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.

Show »
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

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EMBLi

GenBank nucleotide sequence database

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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

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

Protein sequence database of the Protein Information Resource

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PIRi
I53124

NCBI Reference Sequences

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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

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GeneIDi
4209

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:4209

UCSC genome browser

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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_references_section">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, 39 interactors
ELMiQ14814
IntActiQ14814, 13 interactors
MINTiQ14814
STRINGi9606.ENSP00000271555

Chemistry databases

BindingDBiQ14814

PTM databases

iPTMnetiQ14814
PhosphoSitePlusiQ14814

Polymorphism and mutation 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]

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
HPAiHPA004807
HPA007114
MIMi600663 gene
neXtProtiNX_Q14814
OpenTargetsiENSG00000116604
PharmGKBiPA30735

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0014 Eukaryota
COG5068 LUCA
GeneTreeiENSGT00940000159463
InParanoidiQ14814
KOiK09262
OMAiTFPHQPR
OrthoDBi729387at2759
PhylomeDBiQ14814
TreeFamiTF314067

Enzyme and pathway databases

ReactomeiR-HSA-2151201 Transcriptional activation of mitochondrial biogenesis
R-HSA-400253 Circadian Clock
R-HSA-525793 Myogenesis
SignaLinkiQ14814
SIGNORiQ14814

Miscellaneous databases

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
PMAP-CutDBiQ14814

Protein Ontology

More...
PROi
PR:Q14814

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000116604 Expressed in 221 organ(s), highest expression level in gastrocnemius
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_and_isoforms">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: October 16, 2019
This is version 186 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

Complete proteome, Reference proteome

Documents

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