About   Help   FAQ
Mef2c
Gene Detail
Symbol

Name
ID
Mef2c
myocyte enhancer factor 2C
MGI:99458
Synonyms
5430401D19Rik, 9930028G15Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 13
43.68 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr13:83573607-83664472 bp, + strand
From VEGA annotation of GRCm38

  90866 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:31087  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: MEF2C
Gene Tree: Mef2c

Human
homologs
MEF2C, myocyte enhancer factor 2C
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 4208
neXtProt AC: NX_Q06413

Human Synonyms: C5DELq14.3, DEL5q14.3

Human Chr (Location): 5q14.3; chr5:88718241-88904105 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human MEF2C

Mutations,
alleles, and
phenotypes
All mutations/alleles(9) : Chemically induced (ENU)(1) Targeted(7) Transgenic(1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mice homozygous for disruptions in this gene have cardiovascular abnormalities and die as embryos.
 
Interactions
Mef2c interacts with 490 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (175 annotations)
Process apoptotic process, B cell homeostasis, ...
Component cytoplasm, cytosol, ...
Function activating transcription factor binding, AT DNA binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (129 records)
Data Summary: Results (643)    Tissues (293)    Images (114)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 11
RNA in situ 580
RT-PCR 52
cDNA source data(19)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: GEISHA MEF2C ; Xenbase mef2c ; ZFIN mef2ca, mef2cb    NEW 
Molecular
reagents
All nucleic(46) cDNA(25) Primer pair(15) Other(6)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000044481 (Evidence)
Ensembl Gene Model ENSMUSG00000005583 (Evidence)
Entrez Gene 17260 (Evidence)
DFCI TC1578068, TC1581529, TC1585786, TC1587474, TC1602563, TC1632215, TC1642111, TC1642955, TC1663206, TC1741388
DoTS DT.101134290, DT.101384071, DT.101384072, DT.101737823, DT.110973492, DT.529653, DT.530574, DT.91300777, DT.97397130
NIA Mouse Gene Index U015066
Consensus CDS Project CCDS26664.1, CCDS49320.1
International Mouse Phenotyping Consortium Status Mef2c
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000044481 VEGA Gene Model | MGI Sequence Detail 90866 C57BL/6J ±  kb
transcript OTTMUST00000117106 VEGA | MGI Sequence Detail 3480 Not Applicable 
polypeptide OTTMUSP00000065499 VEGA | MGI Sequence Detail 442 Not Applicable 

For the selected sequences
All sequences(89) RefSeq(36) UniProt(3)
Polymorphisms
RFLP(1) : SNPs within 2kb(1099 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR022102 Holliday junction regulator protein family C-terminal
InterPro IPR002100 Transcription factor, MADS-box
Protein Ontology PR:000010311 myocyte-specific enhancer factor 2C
References
(Earliest) J:17643 Martin JF, et al., Myocyte enhancer factor (MEF) 2C: a tissue-restricted member of the MEF-2 family of transcription factors. Proc Natl Acad Sci U S A. 1993 Jun 1;90(11):5282-6
(Latest) J:219364 Zhou ZQ, et al., Mutant activated FGFR3 impairs endochondral bone growth by preventing SOX9 downregulation in differentiating chondrocytes. Hum Mol Genet. 2015 Mar 15;24(6):1764-73
All references(234)
Other
accession IDs
MGD-MRK-16227, MGI:1918600, MGI:2145387, MGI:2443757

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
05/20/2015
MGI 5.22
The Jackson Laboratory