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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
  • Alliance
    gene page
  • Transcription Start Sites
    25 TSS
Location &
Maps
more
  • 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
Strain
Comparison
more
  • SNPs within 2kb
    3767 from dbSNP Build 142
  • Strain Annotations
    18
  • 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 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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MEF2C, myocyte enhancer factor 2C
  • Synonyms
    C5DELq14.3, DEL5q14.3, NEDHSIL
  • Links
    NCBI Gene ID: 4208
    neXtProt AC: NX_Q06413
    UniProt: Q06413

  • Chr Location
    5q14.3; chr5:88717117-88904257 (-)  GRCh38
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
less
  • Phenotype Summary
    79 phenotypes from 8 alleles in 14 genetic backgrounds
    25 phenotypes from multigenic genotypes
    83 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.
Mice homozygous for disruptions in this gene have cardiovascular abnormalities and die as embryos.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    213
  • 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.
Expression
less
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
    1586
  • Tissues
    375
  • cDNA Data
    24
  • Literature Summary
    211
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    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  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 85
      cDNA 33
      Primer pair 39
      Other 13

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-16227, MGI:1918600, MGI:2145387, MGI:2443757
    References
    more
    • Summaries
      All 404
      Developmental Gene Expression 211
      Gene Ontology 63
      Phenotypes 83
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:354050 Basu S, et al., The Mef2c Gene Dose-Dependently Controls Hippocampal Neurogenesis and the Expression of Autism-Like Behaviors. J Neurosci. 2024 Jan 31;44(5)
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory