Mef2c MGI Mouse Gene Detail - MGI:99458 - myocyte enhancer factor 2C

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Mef2c Gene Detail

Symbol

Mef2c
Name

myocyte enhancer factor 2C
Synonyms

5430401D19Rik, 9930028G15Rik

Feature Type

protein coding gene
IDs

MGI:99458
NCBI Gene: 17260
Alliance

genome feature page
Transcription Start Sites

25 TSS
Regulated by

Rr399 (1 regulatory region)

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Sequence Map

Chr13:83652153-83815199 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 13, 43.68 cM
Mapping Data

5 experiments

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SNPs within 2kb

3767 from dbSNP Build 142
Strain Annotations

19
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates	Select Strains
C57BL/6J	MGI_C57BL6J_99458	protein coding gene	Chr13:83652136-83815199 (+)
129S1/SvImJ	ENSMUSG00200005571	protein coding gene	Chr13:78183185-78278426 (+)
A/J	ENSMUSG00195025132	protein coding gene	Chr13:78692782-78788005 (+)
AKR/J	ENSMUSG00220016538	protein coding gene	Chr13:77236915-77328720 (+)
BALB/cJ	ENSMUSG00180001290	protein coding gene	Chr13:79189489-79287676 (+)
C3H/HeJ	ENSMUSG00175018106	protein coding gene	Chr13:79447101-79538925 (+)
C57BL/6NJ	ENSMUSG00215002485	protein coding gene	Chr13:79303470-79395345 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0018748	protein coding gene	Chr13:77766367-77931175 (+)
CAST/EiJ	ENSTCUG00005003734	protein coding gene	Chr13:78608470-78700006 (+)
CBA/J	ENSMUSG00210005082	protein coding gene	Chr13:78731866-78823697 (+)
DBA/2J	ENSMUSG00185009800	protein coding gene	Chr13:82412098-82503902 (+)
FVB/NJ	ENSMUSG00205011065	protein coding gene	Chr13:78181834-78273654 (+)
JF1/MsJ	ENSUMUG00000014331	protein coding gene	Chr13:82138034-82230999 (+)
LP/J	ENSMUSG00230003857	protein coding gene	Chr13:92400436-92492314 (+)
NOD/ShiLtJ	ENSMUSG00190008097	protein coding gene	Chr13:78746600-78844787 (+)
NZO/HlLtJ	ENSMUSG00225030269	protein coding gene	Chr13:84915651-85010878 (+)
PWK/PhJ	ENSLUMG00010013748	protein coding gene	Chr13:78281754-78373546 (+)
SPRET/EiJ	ENSMSPG00010001291	protein coding gene	Chr13:79177763-79325125 (+)
WSB/EiJ	ENSIUOG00005016926	protein coding gene	Chr13:78009351-78104595 (+)

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Human Ortholog

MEF2C, myocyte enhancer factor 2C

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

MEF2C, myocyte enhancer factor 2C
Synonyms

C5DELq14.3, DEL5q14.3, NEDHSIL
Links

HGNC:6996

NCBI Gene ID: 4208

UniProt: Q06413
Chr Location

5q14.3; chr5:88717117-88904257 (-) GRCh38

MGI Vertebrate Homology

Mef2c stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: MEF2C
Gene Tree

Mef2c

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Diseases

1 with human MEF2C associations

				Human Disease	Mouse Models
				neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language IDs neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language DOID:0070050 OMIM:613443

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

79 phenotypes from 8 alleles in 14 genetic backgrounds
25 phenotypes from multigenic genotypes
94 phenotype references

Phenotype Overview

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

21
Chemically induced (ENU)

1
Chemically induced (other)

1
Endonuclease-mediated

7
Targeted

9
Transgenic

3
Genomic Mutations

1 involving Mef2c
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

36 strains or lines available
Comparison Matrix

Gene Expression + Phenotype
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

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

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All GO Annotations

220
GO References

63

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

1498
Tissues

388
cDNA Data

25
Literature Summary

224

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

GEISHA MEF2C

Xenbase mef2c

ZFIN mef2ca, mef2cb

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All Sequences

209
RefSeq

84
UniProt

24
CCDS

CCDS26664.1, CCDS49320.1, CCDS84042.1, CCDS84043.1, CCDS84044.1, CCDS84045.1

Ensembl

ENSMUSG00000005583 (Evidence)
NCBI Gene

17260

Representative Sequences				Length	Strain/Species	Flank
	genomic	ENSMUSG00000005583	Ensembl Gene Model \| MGI Sequence Detail	163047	C57BL/6J	± kb
	transcript	ENSMUST00000163888	Ensembl \| MGI Sequence Detail	6277	Not Applicable
	polypeptide	ENSMUSP00000132547	Ensembl \| MGI Sequence Detail	484	Not Applicable

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UniProt

24 Sequences
Protein Ontology

PR:000010311 myocyte-specific enhancer factor 2C

(term hierarchy)
PDB

5F28
InterPro Domains

IPR022102 Holliday junction regulator protein family C-terminal

IPR033896 MADS MEF2-like, N-terminal

IPR002100 Transcription factor, MADS-box

IPR036879 Transcription factor, MADS-box superfamily
GlyGen

Q8CFN5 5 sites, 1 O-linked glycan (5 sites)

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All nucleic 90

cDNA 34

Primer pair 42

Other 14

Antibodies 8

Microarray probesets 5

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

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Summaries

All 487

Developmental Gene Expression 224

Gene Ontology 63

Phenotypes 94
Earliest

J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
Latest

J:390123 Sreeram II, et al., Retrospective Analysis Reveals the Early Origin and Development of Pulmonary Perivascular Cells. Am J Respir Cell Mol Biol. 2026 Apr 22;

Mef2c expression regulated by:

Feature	Feature Type	Location	Reference
Rr399, regulatory region 399	enhancer	Chr13:83720218-83720368	J:94636

TSS for Mef2c:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr120490	Chr13:83652151-83652169 (+)	7 bp
Tssr120491	Chr13:83652256-83652278 (+)	114 bp
Tssr120492	Chr13:83652279-83652346 (+)	160 bp
Tssr120493	Chr13:83652352-83652374 (+)	210 bp
Tssr120494	Chr13:83652422-83652429 (+)	273 bp
Tssr120495	Chr13:83672390-83672408 (+)	20,246 bp
Tssr120496	Chr13:83672620-83672639 (+)	20,477 bp
Tssr120497	Chr13:83672666-83672680 (+)	20,520 bp
Tssr120498	Chr13:83672712-83672737 (+)	20,572 bp
Tssr120499	Chr13:83672931-83672957 (+)	20,791 bp
Tssr120500	Chr13:83672965-83672990 (+)	20,825 bp
Tssr120501	Chr13:83673810-83673819 (+)	21,662 bp
Tssr120502	Chr13:83720457-83720476 (+)	68,314 bp
Tssr120503	Chr13:83720484-83720509 (+)	68,344 bp
Tssr120504	Chr13:83720510-83720532 (+)	68,368 bp
Tssr120505	Chr13:83721696-83721722 (+)	69,556 bp
Tssr120506	Chr13:83722594-83722603 (+)	70,446 bp
Tssr120507	Chr13:83723258-83723262 (+)	71,107 bp
Tssr120508	Chr13:83723744-83723753 (+)	71,596 bp
Tssr120509	Chr13:83731213-83731237 (+)	79,072 bp
Tssr120510	Chr13:83757548-83757560 (+)	105,401 bp
Tssr120511	Chr13:83804832-83804835 (+)	152,681 bp
Tssr120512	Chr13:83811840-83811849 (+)	159,692 bp
Tssr120513	Chr13:83811946-83811959 (+)	159,800 bp
Tssr120514	Chr13:83814090-83814103 (+)	161,944 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 09/08/2026 MGI 6.24