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Mef2c Gene Detail
Summary
  • Symbol
    Mef2c
  • Name
    myocyte enhancer factor 2C
  • Synonyms
    5430401D19Rik, 9930028G15Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:99458
    NCBI Gene: 17260
  • Gene Overview
    MyGene.info: MEF2C
Location & Maps
more
  • Sequence Map
    Chr13:83504034-83667080 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      163047 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 43.68 cM
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    MEF2C, myocyte enhancer factor 2C
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MEF2C, myocyte enhancer factor 2C
    Orthology source: HomoloGene
  • Synonyms
    C5DELq14.3, DEL5q14.3
  • Links
    NCBI Gene ID: 4208
    neXtProt AC: NX_Q06413

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

  • HomoloGene
    Vertebrate Homology Class 31087
    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
Human Diseases
more
  • Diseases
    1 with human MEF2C associations

Human Disease Mouse Models
       Mental Retardation, Autosomal Dominant 20; MRD20   OMIM: 613443
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    53 phenotypes from 9 alleles in 13 genetic backgrounds
    17 phenotypes from multigenic genotypes
    44 phenotype references
Phenotype Overview

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
    12
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Targeted
    7
  • Transgenic
    3
  • Genomic Mutations
    1 involving Mef2c
  • Incidental Mutations
Mice homozygous for disruptions in this gene have cardiovascular abnormalities and die as embryos.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000044481 VEGA Gene Model | MGI Sequence Detail 163047 C57BL/6J ±  kb
transcript OTTMUST00000137082 VEGA | MGI Sequence Detail 6277 Not Applicable  
polypeptide OTTMUSP00000072248 VEGA | MGI Sequence Detail 484 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    1113 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    24 Sequences
  • Protein Ontology
    PR:000010311 myocyte-specific enhancer factor 2C
  • InterPro Domains
    IPR022102 Holliday junction regulator protein family C-terminal
    IPR002100 Transcription factor, MADS-box
Molecular
Reagents
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  • All nucleic 46
    cDNA 25
    Primer pair 15
    Other 6

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-16227, MGI:1918600, MGI:2145387, MGI:2443757
References
more
  • Summaries
    All 240
    Developmental Gene Expression 134
    Gene Ontology 56
    Phenotypes 44
  • 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:230599 Latchney SE, et al., Inducible knockout of Mef2a, -c, and -d from nestin-expressing stem/progenitor cells and their progeny unexpectedly uncouples neurogenesis and dendritogenesis in vivo. FASEB J. 2015 Dec;29(12):5059-71

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory