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Mef2d Gene Detail
Summary
  • Symbol
    Mef2d
  • Name
    myocyte enhancer factor 2D
  • Feature Type
    protein coding gene
  • IDs
    MGI:99533
    NCBI Gene: 17261
  • Alliance
    genome feature page
  • Transcription Start Sites
    18 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:88049679-88079393 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 38.78 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    480 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_99533
 protein coding gene Chr3:88049248-88079398 (+)
129S1/SvImJ ENSMUSG00200039264
 protein coding gene Chr3:84904532-84934249 (+)
A/J ENSMUSG00195050172
 protein coding gene Chr3:84926165-84955886 (+)
AKR/J ENSMUSG00220050379
 protein coding gene Chr3:84874264-84903980 (+)
BALB/cJ ENSMUSG00180046354
 protein coding gene Chr3:85043875-85073604 (+)
C3H/HeJ ENSMUSG00175034489
 protein coding gene Chr3:84853879-84883602 (+)
C57BL/6NJ ENSMUSG00215045215
 protein coding gene Chr3:85292242-85321955 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025156
 protein coding gene Chr3:80915819-80945718 (+)
CAST/EiJ ENSTCUG00005042332
 protein coding gene Chr3:84380841-84410326 (+)
CBA/J ENSMUSG00210034205
 protein coding gene Chr3:84996879-85026602 (+)
DBA/2J ENSMUSG00185047286
 protein coding gene Chr3:85132551-85162266 (+)
FVB/NJ ENSMUSG00205034529
 protein coding gene Chr3:83921048-83950767 (+)
JF1/MsJ ENSUMUG00000009915
 protein coding gene Chr3:84670546-84700343 (+)
LP/J ENSMUSG00230025855
 protein coding gene Chr3:87125932-87155646 (+)
NOD/ShiLtJ ENSMUSG00190032953
 protein coding gene Chr3:85373281-85403002 (+)
NZO/HlLtJ ENSMUSG00225005683
 protein coding gene Chr3:89881475-89911201 (+)
PWK/PhJ ENSLUMG00010039968
 protein coding gene Chr3:84760899-84790635 (+)
SPRET/EiJ ENSMSPG00010049826
 protein coding gene Chr3:85601240-85630668 (+)
WSB/EiJ ENSIUOG00005046118
 protein coding gene Chr3:85373069-85402757 (+)



Homology
more
  • Human Ortholog
    MEF2D, myocyte enhancer factor 2D
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MEF2D, myocyte enhancer factor 2D
  • Links
    NCBI Gene ID: 4209
    UniProt: Q14814

  • Chr Location
    1q22; chr1:156463727-156501266 (-)  GRCh38
Human Diseases
less
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    29 phenotypes from 4 alleles in 4 genetic backgrounds
    16 phenotypes from multigenic genotypes
    38 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 a knock-out allele exhibit abnormal synapse formation between retinal photoreceptor and bipolar cells, progressive photoreceptor degeneration, and severely impaired electroretinograms.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    49
  • GO References
    20
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
    890
  • Tissues
    158
  • cDNA Data
    25
  • Literature Summary
    34
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000001419 Ensembl Gene Model | MGI Sequence Detail 29715 C57BL/6J ±  kb
    transcript ENSMUST00000107559 Ensembl | MGI Sequence Detail 1791 Not Applicable  
    polypeptide ENSMUSP00000103184 Ensembl | MGI Sequence Detail 514 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • Protein Ontology
      PR:000010312 myocyte-specific enhancer factor 2D
      (term hierarchy)
    • 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
      Q63943 4 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 38
      cDNA 26
      Primer pair 11
      Other 1
      Antibodies 3

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-16311, MGI:2140078
    References
    more
    • Summaries
      All 146
      Developmental Gene Expression 34
      Diseases 1
      Gene Ontology 20
      Phenotypes 38
    • Earliest
      J:16903 Martin JF, et al., A Mef2 gene that generates a muscle-specific isoform via alternative mRNA splicing. Mol Cell Biol. 1994 Mar;14(3):1647-56
    • Latest
      J:378401 Xiang J, et al., MEF2D-expressing cancer precursors reprogram tissue-resident macrophages to support liver tumorigenesis. Nat Cancer. 2025 Dec;6(12):1955-1975
    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
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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory