Human Gene MEF2C (uc003kjm.3)
  Description: Homo sapiens myocyte enhancer factor 2C (MEF2C), transcript variant 2, mRNA.
RefSeq Summary (NM_001131005): This locus encodes a member of the MADS box transcription enhancer factor 2 (MEF2) family of proteins, which play a role in myogenesis. The encoded protein, MEF2 polypeptide C, has both trans-activating and DNA binding activities. This protein may play a role in maintaining the differentiated state of muscle cells. Mutations and deletions at this locus have been associated with severe cognitive disability, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010].
Transcript (Including UTRs)
   Position: hg19 chr5:88,014,058-88,199,922 Size: 185,865 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr5:88,018,421-88,119,605 Size: 101,185 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:88,014,058-88,199,922)mRNA (may differ from genome)Protein (463 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMalacardsMGI
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: C9JMZ0_HUMAN
DESCRIPTION: SubName: Full=Myocyte-specific enhancer factor 2C;
SUBCELLULAR LOCATION: Nucleus (By similarity).
SIMILARITY: Contains 1 MADS-box domain.
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MEF2C
CDC HuGE Published Literature: MEF2C
Positive Disease Associations: Blood Pressure , Body Height , Body Weights and Measures , Bone Density , Bone mineral density (hip) , Cardiomegaly , Diabetes Mellitus, Type 2 , Erythrocytes , Fibrinogen , Hemoglobins , Lupus Erythematosus, Systemic , Platelet Count , Pulse , tonometry
Related Studies:
  1. Blood Pressure
    Daniel Levy et al. BMC medical genetics 2007, Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness., BMC medical genetics. [PubMed 17903302]
    These results of genome-wide association testing for blood pressure and arterial stiffness phenotypes in an unselected community-based sample of adults may aid in the identification of the genetic basis of hypertension and arterial disease, help identify high risk individuals, and guide novel therapies for hypertension. Additional studies are needed to replicate any associations identified in these analyses.
  2. Body Height
    Hana Lango Allen et al. Nature 2010, Hundreds of variants clustered in genomic loci and biological pathways affect human height., Nature. [PubMed 20881960]
  3. Body Weights and Measures
    Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics. [PubMed 17903300]
    Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: MEF2C
Diseases sorted by gene-association score: mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations* (1025), arrhythmogenic right ventricular dysplasia 5 (9), congenital muscular dystrophy due to lmna mutation (7), rett syndrome (6), cardiomyopathy, dilated, 1e (5), skeletal muscle cancer (5), conotruncal heart malformations (4), heart septal defect (4), ischemia (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 40.51 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 372.03 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -118.30429-0.276 Picture PostScript Text
3' UTR -1100.044363-0.252 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR022102 - HJURP_C
IPR002100 - TF_MADSbox

Pfam Domains:
PF00319 - SRF-type transcription factor (DNA-binding and dimerisation domain)
PF12347 - Holliday junction regulator protein family C-terminal repeat

SCOP Domains:
55455 - SRF-like

ModBase Predicted Comparative 3D Structure on C9JMZ0
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene Details   Gene Details 
Gene Sorter   Gene Sorter 
    WormBase 
    Protein Sequence 
    Alignment 

-  Descriptions from all associated GenBank mRNAs
  AL833268 - Homo sapiens mRNA; cDNA DKFZp451I0810 (from clone DKFZp451I0810).
AL833274 - Homo sapiens mRNA; cDNA DKFZp451A048 (from clone DKFZp451A048).
BC026341 - Homo sapiens MADS box transcription enhancer factor 2, polypeptide C (myocyte enhancer factor 2C), mRNA (cDNA clone IMAGE:4815933).
L08895 - Homo sapiens MADS/MEF2-family transcription factor (MEF2C) mRNA, complete cds.
AK307883 - Homo sapiens cDNA, FLJ97831.
S57212 - hMEF2C=myocyte enhancer-binding factor 2 [human, skeletal muscles, mRNA, 2161 nt].
EU832832 - Synthetic construct Homo sapiens clone HAIB:100067861; DKFZo008G0833 myocyte enhancer factor 2C protein (MEF2C) gene, encodes complete protein.
FM163484 - Homo sapiens mRNA for myocyte enhancer factor 2c (MEF2C gene), splice variant VP.
FM180475 - Homo sapiens mRNA for myocyte enhancer factor 2c (MEF2C gene), splice variant VP2.
AK312472 - Homo sapiens cDNA, FLJ92829, highly similar to Homo sapiens MADS box transcription enhancer factor 2, polypeptide C (myocyte enhancer factor 2C) (MEF2C), mRNA.
GQ129219 - Synthetic construct Homo sapiens clone HAIB:100068522; DKFZo004G0734 myocyte enhancer factor 2C protein (MEF2C) gene, partial cds.
GQ129221 - Synthetic construct Homo sapiens clone HAIB:100068523; DKFZo004G0834 myocyte enhancer factor 2C protein (MEF2C) gene, partial cds.
BC152784 - Synthetic construct Homo sapiens clone IMAGE:100016029, MGC:184181 myocyte enhancer factor 2C (MEF2C) mRNA, encodes complete protein.
BC156603 - Synthetic construct Homo sapiens clone IMAGE:100062071, MGC:190160 myocyte enhancer factor 2C (MEF2C) mRNA, encodes complete protein.
AB384888 - Synthetic construct DNA, clone: pF1KB4035, Homo sapiens MEF2C gene for myocyte-specific enhancer factor 2C, complete cds, without stop codon, in Flexi system.
GQ129393 - Synthetic construct Homo sapiens clone HAIB:100068606; DKFZo008F0535 myocyte enhancer factor 2C protein (MEF2C) gene, complete cds.
GQ129392 - Synthetic construct Homo sapiens clone HAIB:100068703; DKFZo004F0536 myocyte enhancer factor 2C protein (MEF2C) gene, partial cds.
EU446634 - Synthetic construct Homo sapiens clone IMAGE:100070138; IMAGE:100011843; FLH258145.01L myocyte enhancer factor 2C (MEF2C) gene, encodes complete protein.
JD251337 - Sequence 232361 from Patent EP1572962.
JD251135 - Sequence 232159 from Patent EP1572962.
JD122987 - Sequence 104011 from Patent EP1572962.
JD236523 - Sequence 217547 from Patent EP1572962.
JD263512 - Sequence 244536 from Patent EP1572962.
JD289456 - Sequence 270480 from Patent EP1572962.
JD295558 - Sequence 276582 from Patent EP1572962.
JD420043 - Sequence 401067 from Patent EP1572962.
JD181774 - Sequence 162798 from Patent EP1572962.
JD556946 - Sequence 537970 from Patent EP1572962.
JD307859 - Sequence 288883 from Patent EP1572962.
JD154540 - Sequence 135564 from Patent EP1572962.
JD259986 - Sequence 241010 from Patent EP1572962.
JD378911 - Sequence 359935 from Patent EP1572962.
JD299869 - Sequence 280893 from Patent EP1572962.
JD355437 - Sequence 336461 from Patent EP1572962.
JD271380 - Sequence 252404 from Patent EP1572962.
JD110615 - Sequence 91639 from Patent EP1572962.
JD168338 - Sequence 149362 from Patent EP1572962.
JD175167 - Sequence 156191 from Patent EP1572962.
JD073368 - Sequence 54392 from Patent EP1572962.
JD310228 - Sequence 291252 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04010 - MAPK signaling pathway

BioCarta from NCI Cancer Genome Anatomy Project
h_alkPathway - ALK in cardiac myocytes
h_carm-erPathway - CARM1 and Regulation of the Estrogen Receptor
h_nfatPathway - NFAT and Hypertrophy of the heart (Transcription in the broken heart)

-  Other Names for This Gene
  Alternate Gene Symbols: C9JMZ0, C9JMZ0_HUMAN, NM_001131005, NP_001124477
UCSC ID: uc003kjm.3
RefSeq Accession: NM_001131005
Protein: C9JMZ0 CCDS: CCDS47244.1, CCDS54878.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001131005.2
exon count: 11CDS single in 3' UTR: no RNA size: 6194
ORF size: 1392CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2933.50frame shift in genome: no % Coverage: 99.84
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.