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Protein

Myocyte-specific enhancer factor 2C

Gene

MEF2C

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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. Plays an essential role in hippocampal-dependent learning and memory by suppressing the number of excitatory synapses and thus regulating basal and evoked synaptic transmission. Crucial for normal neuronal development, distribution, and electrical activity in the neocortex. Necessary for proper development of megakaryocytes and platelets and for bone marrow B-lymphopoiesis. Required for B-cell survival and proliferation in response to BCR stimulation, efficient IgG1 antibody responses to T-cell-dependent antigens and for normal induction of germinal center B-cells. May also be involved in neurogenesis and in the development of cortical architecture (By similarity). Isoform 3 and isoform 4, which lack the repressor domain, are more active than isoform 1 and isoform 2.By similarity6 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi58 – 86Mef2-typeSequence analysisAdd BLAST29

GO - Molecular functioni

GO - Biological processi

Keywordsi

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

Enzyme and pathway databases

ReactomeiR-HSA-198753 ERK/MAPK targets
R-HSA-2151201 Transcriptional activation of mitochondrial biogenesis
R-HSA-375170 CDO in myogenesis
R-HSA-400253 Circadian Clock
SignaLinkiQ06413
SIGNORiQ06413

Names & Taxonomyi

Protein namesi
Recommended name:
Myocyte-specific enhancer factor 2CCurated
Alternative name(s):
Myocyte enhancer factor 2CImported
Gene namesi
Name:MEF2CImported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000081189.13
HGNCiHGNC:6996 MEF2C
MIMi600662 gene
neXtProtiNX_Q06413

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; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal dominant 20 (MRD20)1 Publication
The disease is caused by mutations 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.
See also OMIM:613443

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 mutation, Epilepsy, Mental retardation

Organism-specific databases

DisGeNETi4208
MalaCardsiMEF2C
MIMi613443 phenotype
OpenTargetsiENSG00000081189
Orphaneti228384 5q14.3 microdeletion syndrome
PharmGKBiPA30734

Polymorphism and mutation databases

BioMutaiMEF2C
DMDMi2500875

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001994331 – 473Myocyte-specific enhancer factor 2CAdd BLAST473

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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

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
Sitei432 – 433CleavageCurated2

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ06413
MaxQBiQ06413
PeptideAtlasiQ06413
PRIDEiQ06413
ProteomicsDBi58439
58440 [Q06413-2]
58441 [Q06413-3]
58442 [Q06413-4]

PTM databases

iPTMnetiQ06413
PhosphoSitePlusiQ06413

Expressioni

Tissue specificityi

Expressed in brain and skeletal muscle.1 Publication

Developmental stagei

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

Gene expression databases

BgeeiENSG00000081189 Expressed in 229 organ(s), highest expression level in middle temporal gyrus
CleanExiHS_MEF2C
ExpressionAtlasiQ06413 baseline and differential
GenevisibleiQ06413 HS

Organism-specific databases

HPAiCAB068196
CAB068197
HPA005533

Interactioni

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).By similarity3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
MYLK2Q9H1R32EBI-2684075,EBI-356910

GO - Molecular functioni

Protein-protein interaction databases

BioGridi110372, 28 interactors
DIPiDIP-40857N
ELMiQ06413
IntActiQ06413, 19 interactors
MINTiQ06413

Structurei

3D structure databases

ProteinModelPortaliQ06413
SMRiQ06413
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini3 – 57MADS-boxPROSITE-ProRule annotationAdd BLAST55

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni271 – 278Beta domain8
Regioni368 – 399Transcription repressorAdd BLAST32

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi4 – 31Lys-rich (basic)Add BLAST28
Compositional biasi146 – 183Ser-richAdd BLAST38

Domaini

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

Sequence similaritiesi

Belongs to the MEF2 family.Curated

Phylogenomic databases

GeneTreeiENSGT00390000011828
HOGENOMiHOG000230620
HOVERGENiHBG053944
InParanoidiQ06413
KOiK04454
OMAiHLVMPNS
OrthoDBiEOG091G05BY
PhylomeDBiQ06413
TreeFamiTF314067

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

Sequences (6+)i

Sequence statusi: Complete.

This entry describes 6 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 'canonical' 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
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.

Note: No experimental confirmation available.
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.

Note: No experimental confirmation available.
Show »
Length:463
Mass (Da):50,242
Checksum:iB78282622DC98CE5
GO

Computationally mapped potential isoform sequencesi

There are 20 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D8L7E9D8L7E9_HUMAN
Myocyte enhancer factor 2c
MEF2C
393Annotation score:
A0A0D9SGI5A0A0D9SGI5_HUMAN
Myocyte-specific enhancer factor 2C
MEF2C
471Annotation score:
D6RJG6D6RJG6_HUMAN
Myocyte-specific enhancer factor 2C
MEF2C
399Annotation score:
A0A0D9SFD0A0A0D9SFD0_HUMAN
MADS box transcription enhancer fac...
MEF2C hCG_36839
431Annotation score:
A0A0R4J2G5A0A0R4J2G5_HUMAN
Myocyte-specific enhancer factor 2C
MEF2C
433Annotation score:
A0A1B0GV32A0A1B0GV32_HUMAN
Myocyte-specific enhancer factor 2C
MEF2C
462Annotation score:
D6RJA7D6RJA7_HUMAN
Myocyte-specific enhancer factor 2C
MEF2C
194Annotation score:
D6R942D6R942_HUMAN
Myocyte-specific enhancer factor 2C
MEF2C
227Annotation score:
D6RCM6D6RCM6_HUMAN
Myocyte-specific enhancer factor 2C
MEF2C
129Annotation score:
D6RC63D6RC63_HUMAN
Myocyte-specific enhancer factor 2C
MEF2C
242Annotation score:
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti390I → T in AL833268 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07822836S → R Probable disease-associated mutation found in a patient with infantile onset epileptic encephalopathy and autism spectrum disorder. 1 Publication1
Natural variantiVAR_07862139C → R Probable disease-associated mutation 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
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:
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
UniGeneiHs.649965

Genome annotation databases

EnsembliENST00000340208; ENSP00000340874; ENSG00000081189 [Q06413-5]
ENST00000424173; ENSP00000389610; ENSG00000081189 [Q06413-6]
ENST00000437473; ENSP00000396219; ENSG00000081189 [Q06413-1]
ENST00000504921; ENSP00000421925; ENSG00000081189 [Q06413-1]
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 [Q06413-1]
ENST00000636998; ENSP00000490630; ENSG00000081189 [Q06413-3]
ENST00000637732; ENSP00000490241; ENSG00000081189 [Q06413-3]
GeneIDi4208
KEGGihsa:4208
UCSCiuc003kjj.4 human [Q06413-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

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
UniGeneiHs.649965

3D structure databases

ProteinModelPortaliQ06413
SMRiQ06413
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110372, 28 interactors
DIPiDIP-40857N
ELMiQ06413
IntActiQ06413, 19 interactors
MINTiQ06413

PTM databases

iPTMnetiQ06413
PhosphoSitePlusiQ06413

Polymorphism and mutation databases

BioMutaiMEF2C
DMDMi2500875

Proteomic databases

EPDiQ06413
MaxQBiQ06413
PeptideAtlasiQ06413
PRIDEiQ06413
ProteomicsDBi58439
58440 [Q06413-2]
58441 [Q06413-3]
58442 [Q06413-4]

Protocols and materials databases

DNASUi4208
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000340208; ENSP00000340874; ENSG00000081189 [Q06413-5]
ENST00000424173; ENSP00000389610; ENSG00000081189 [Q06413-6]
ENST00000437473; ENSP00000396219; ENSG00000081189 [Q06413-1]
ENST00000504921; ENSP00000421925; ENSG00000081189 [Q06413-1]
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 [Q06413-1]
ENST00000636998; ENSP00000490630; ENSG00000081189 [Q06413-3]
ENST00000637732; ENSP00000490241; ENSG00000081189 [Q06413-3]
GeneIDi4208
KEGGihsa:4208
UCSCiuc003kjj.4 human [Q06413-1]

Organism-specific databases

CTDi4208
DisGeNETi4208
EuPathDBiHostDB:ENSG00000081189.13
GeneCardsiMEF2C
HGNCiHGNC:6996 MEF2C
HPAiCAB068196
CAB068197
HPA005533
MalaCardsiMEF2C
MIMi600662 gene
613443 phenotype
neXtProtiNX_Q06413
OpenTargetsiENSG00000081189
Orphaneti228384 5q14.3 microdeletion syndrome
PharmGKBiPA30734
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00390000011828
HOGENOMiHOG000230620
HOVERGENiHBG053944
InParanoidiQ06413
KOiK04454
OMAiHLVMPNS
OrthoDBiEOG091G05BY
PhylomeDBiQ06413
TreeFamiTF314067

Enzyme and pathway databases

ReactomeiR-HSA-198753 ERK/MAPK targets
R-HSA-2151201 Transcriptional activation of mitochondrial biogenesis
R-HSA-375170 CDO in myogenesis
R-HSA-400253 Circadian Clock
SignaLinkiQ06413
SIGNORiQ06413

Miscellaneous databases

ChiTaRSiMEF2C human
GeneWikiiMEF2C
GenomeRNAii4208
PROiPR:Q06413
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000081189 Expressed in 229 organ(s), highest expression level in middle temporal gyrus
CleanExiHS_MEF2C
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
ProtoNetiSearch...

Entry informationi

Entry nameiMEF2C_HUMAN
AccessioniPrimary (citable) accession number: Q06413
Secondary accession number(s): C9JMZ0, D7F7N5, F8W7V7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: November 7, 2018
This is version 178 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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