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
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.
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.
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]
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.
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.
ModBase Predicted Comparative 3D Structure on C9JMZ0
Front
Top
Side
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.
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)