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

Chr13:83504034-83667079 bp, + strand From NCBI annotation of GRCm38   163046 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 zebrafish

Gene Tree: Mef2c

Human homologs

Human Homolog		MEF2C, myocyte enhancer factor 2C
NCBI Gene ID		4208
neXtProt AC		NX_Q06413
Human Synonyms		C5DELq14.3, DEL5q14.3
Human Chr (Location)		5q14; chr5:88014058-88199922 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human MEF2C

Alleles and phenotypes

All alleles(6) : Targeted(6)
 

Mice homozygous for disruptions in this gene have cardiovascular abnormalities and die as embryos.

 

Gene Ontology (GO) classifications

All GO classifications: (150 annotations)

Process	apoptotic process, B cell homeostasis, ...
Component	cytoplasm, intracellular membrane-bounded organelle, ...
Function	activating transcription factor binding, AT DNA binding, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (114 records)
Data Summary: Results (621)    Tissues (275)    Images (100)
Theiler Stages: 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	11
RNA in situ	560
RT-PCR	50

cDNA source data(19)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(42) cDNA(24) Primer pair(14) Other(4)
Microarray probesets(5)

Other database links

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 Knockout Project Status	Mef2c

Sequences

Length	Strain/Species
genomic	17260	NCBI Gene Model | MGI Sequence Detail	163046	C57BL/6J
transcript	NM_001170537	RefSeq | MGI Sequence Detail	6427	C57BL/6
polypeptide	Q8CFN5	UniProt | EBI | MGI Sequence Detail	474	Not Applicable

All sequences(52) RefSeq(4) UniProt(3)

Polymorphisms

RFLP(1) : SNPs(915 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR022102	Holliday junction regulator protein family C-terminal
InterPro	IPR002100	Transcription factor, MADS-box
Protein Ontology	PR:000010311	myocyte-specific enhancer factor 2C

Graphical View of Protein Domain Structure

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:193822 Lumayag S, et al., Inactivation of the microRNA-183/96/182 cluster results in syndromic retinal degeneration. Proc Natl Acad Sci U S A. 2013 Feb 5;110(6):E507-16
All references(211)

Other accession IDs

MGD-MRK-16227, MGI:1918600, MGI:2145387, MGI:2443757