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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
  • Alliance
  • Transcription Start Sites
    18 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:83504034-83667079 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 43.68 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1113 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_99458
protein coding gene Chr13:83504034-83667080 (.)
129S1/SvImJ MGP_129S1SvImJ_G0020791
protein coding gene Chr13:84347095-84521141 (+)
A/J MGP_AJ_G0020747
protein coding gene Chr13:81387171-81552956 (+)
AKR/J MGP_AKRJ_G0020720
protein coding gene Chr13:83833506-84001913 (+)
BALB/cJ MGP_BALBcJ_G0020743
protein coding gene Chr13:81951390-82123659 (+)
C3H/HeJ MGP_C3HHeJ_G0020537
protein coding gene Chr13:83528994-83702160 (+)
C57BL/6NJ MGP_C57BL6NJ_G0021180
protein coding gene Chr13:87053639-87223521 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0018748
protein coding gene Chr13:77766367-77931175 (+)
CAST/EiJ MGP_CASTEiJ_G0020055
protein coding gene Chr13:82627417-82791921 (+)
CBA/J MGP_CBAJ_G0020496
protein coding gene Chr13:90361323-90537590 (+)
DBA/2J MGP_DBA2J_G0020621
protein coding gene Chr13:81062959-81227561 (+)
FVB/NJ MGP_FVBNJ_G0020601
protein coding gene Chr13:80104124-80266486 (+)
LP/J MGP_LPJ_G0020694
protein coding gene Chr13:84584511-84750118 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0020630
protein coding gene Chr13:89596613-89791297 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0021220
protein coding gene Chr13:83194067-83369305 (+)
PWK/PhJ MGP_PWKPhJ_G0019808
protein coding gene Chr13:79959888-80125773 (+)
SPRET/EiJ MGP_SPRETEiJ_G0019631
protein coding gene Chr13:79519939-79691327 (+)
WSB/EiJ MGP_WSBEiJ_G0020112
protein coding gene Chr13:83660439-83832605 (+)



Homology
more
  • Human Ortholog
    MEF2C, myocyte enhancer factor 2C
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MEF2C, myocyte enhancer factor 2C
    Orthology source: HGNC, HomoloGene
  • Synonyms
    C5DELq14.3, DEL5q14.3
  • Links
    NCBI Gene ID: 4208
    neXtProt AC: NX_Q06413
    UniProt: Q06413

  • Chr Location
    5q14.3; chr5:88718241-88904105 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 31087
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: MEF2C
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human MEF2C associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    72 phenotypes from 9 alleles in 14 genetic backgrounds
    21 phenotypes from multigenic genotypes
    56 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic 17260 NCBI Gene Model | MGI Sequence Detail 163046 C57BL/6J ±  kb
    transcript NM_001347564 RefSeq | MGI Sequence Detail 6451 C57BL/6  
    polypeptide Q8CFN5 UniProt | EBI | MGI Sequence Detail 474 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      24 Sequences
    • PDB
    • InterPro Domains
      IPR022102 Holliday junction regulator protein family C-terminal
      IPR033896 MADS MEF2-like
      IPR002100 Transcription factor, MADS-box
      IPR036879 Transcription factor, MADS-box superfamily
    Molecular
    Reagents
    less
    • All nucleic 54
      cDNA 29
      Primer pair 17
      Other 8

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-16227, MGI:1918600, MGI:2145387, MGI:2443757
    References
    more
    • Summaries
      All 310
      Developmental Gene Expression 159
      Gene Ontology 60
      Phenotypes 56
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:264388 Mifflin JJ, et al., Intercalated cushion cells within the cardiac outflow tract are derived from the myocardial troponin T type 2 (Tnnt2) Cre lineage. Dev Dyn. 2018 Jun 19;

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory