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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
    gene 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
    18
  • 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 MGP_129S1SvImJ_G0027384
 protein coding gene Chr3:88286052-88317780 (+)
A/J MGP_AJ_G0027348
 protein coding gene Chr3:85288285-85318947 (+)
AKR/J MGP_AKRJ_G0027314
 protein coding gene Chr3:87384433-87414146 (+)
BALB/cJ MGP_BALBcJ_G0027357
 protein coding gene Chr3:85381283-85412877 (+)
C3H/HeJ MGP_C3HHeJ_G0027100
 protein coding gene Chr3:87670680-87701917 (+)
C57BL/6NJ MGP_C57BL6NJ_G0027803
 protein coding gene Chr3:91535627-91565328 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025156
 protein coding gene Chr3:80915819-80945718 (+)
CAST/EiJ MGP_CASTEiJ_G0026546
 protein coding gene Chr3:87876184-87906667 (+)
CBA/J MGP_CBAJ_G0027075
 protein coding gene Chr3:94649468-94681864 (+)
DBA/2J MGP_DBA2J_G0027211
 protein coding gene Chr3:84775985-84806037 (+)
FVB/NJ MGP_FVBNJ_G0027180
 protein coding gene Chr3:83052554-83083163 (+)
LP/J MGP_LPJ_G0027319
 protein coding gene Chr3:89254697-89285206 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0027199
 protein coding gene Chr3:100893066-100924375 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0027861
 protein coding gene Chr3:87144616-87175219 (+)
PWK/PhJ MGP_PWKPhJ_G0026279
 protein coding gene Chr3:84574522-84604717 (+)
SPRET/EiJ MGP_SPRETEiJ_G0026097
 protein coding gene Chr3:86323584-86353399 (+)
WSB/EiJ MGP_WSBEiJ_G0026626
 protein coding gene Chr3:87501152-87531265 (+)



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
    neXtProt AC: NX_Q14814
    UniProt: Q14814

  • Chr Location
    1q22; chr1:156463727-156500779 (-)  GRCh38
Human Diseases
less
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    29 phenotypes from 4 alleles in 4 genetic backgrounds
    16 phenotypes from multigenic genotypes
    37 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
    46
  • GO References
    19
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
    932
  • Tissues
    115
  • cDNA Data
    25
  • Literature Summary
    33
  • 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
      5 Sequences
    • Protein Ontology
      PR:000010312 myocyte-specific enhancer factor 2D
      (term hierarchy)
    • InterPro Domains
      IPR022102 Holliday junction regulator protein family C-terminal
      IPR050142 MADS-box/MEF2 Transcription Factor
      IPR033896 MADS MEF2-like
      IPR002100 Transcription factor, MADS-box
      IPR036879 Transcription factor, MADS-box superfamily
    • GlyGen
      Q63943 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 35
      cDNA 26
      Primer pair 8
      Other 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-16311, MGI:2140078
    References
    more
    • Summaries
      All 124
      Developmental Gene Expression 33
      Diseases 1
      Gene Ontology 19
      Phenotypes 37
    • 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:343966 Velasco-Aviles S, et al., A genetic compensatory mechanism regulated by Jun and Mef2d modulates the expression of distinct class IIa Hdacs to ensure peripheral nerve myelination and repair. Elife. 2022 Jan 25;11:e72917
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory