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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
Location & Maps
more
  • Sequence Map
    Chr3:88142372-88172086 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      29715 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    MEF2D, myocyte enhancer factor 2D
  • Vertebrate Orthologs
    9
  • Human Ortholog
    MEF2D, myocyte enhancer factor 2D
    Orthology source: HGNC, HomoloGene
  • Links
    NCBI Gene ID: 4209
    neXtProt AC: NX_Q14814

  • Chr Location
    1q12-q23; chr1:156463721-156500842 (-)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    12 phenotypes from 3 alleles in 2 genetic backgrounds
    12 phenotypes from multigenic genotypes
    16 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    65
  • Chemically induced (other)
    1
  • Gene trapped
    56
  • Radiation induced
    1
  • Targeted
    6
  • Transgenic
    1
  • Genomic Mutations
    2 involving Mef2d
  • Incidental Mutations
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 OTTMUSG00000027132 VEGA Gene Model | MGI Sequence Detail 29715 C57BL/6J ±  kb
transcript OTTMUST00000067116 VEGA | MGI Sequence Detail 1791 Not Applicable  
polypeptide OTTMUSP00000033723 VEGA | MGI Sequence Detail 514 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    34 from dbSNP Build 137
  • RFLP
Protein
Information
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  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000010312 myocyte-specific enhancer factor 2D
  • InterPro Domains
    IPR022102 Holliday junction regulator protein family C-terminal
    IPR002100 Transcription factor, MADS-box
Molecular
Reagents
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  • All nucleic 31
    cDNA 24
    Primer pair 6
    Other 1

    Microarray probesets 6
Other
Accession IDs
less
MGD-MRK-16311, MGI:2140078
References
more
  • Summaries
    All 82
    Developmental Gene Expression 25
    Gene Ontology 17
    Phenotypes 16
  • 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:222854 Laguna A, et al., Dopaminergic control of autophagic-lysosomal function implicates Lmx1b in Parkinson's disease. Nat Neurosci. 2015 Jun;18(6):826-35

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
02/02/2016
MGI 6.02
The Jackson Laboratory