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FLASH GENE
Symbol MEF2B contributors: mct/npt/pgu - updated : 15-03-2010
HGNC name myocyte enhancer factor 2B
HGNC id 6995
DNA
TYPE functioning gene
SPECIAL FEATURE component of a cluster
text component of a cluster of paralogous genes on chromosomes 19 and 15
STRUCTURE 24.72 kb     9 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map see TM6SF2
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 - 1472 - 368 - 1998 9430690
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Lymphoid/Immunelymph node   highly
 tonsils   highly
Reproductivefemale systemuteruscervix highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • MADS,(yeast Mcm1, plant homeotic Agamous and Deficiens, human Serum response factor) domain
  • a MEF2 specific domain and forming with it a DNA binding and dimerization domains
  • HOMOLOGY
    intraspecies paralog to MEF2A
    Homologene
    FAMILY
  • MEF2 family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • associating with HDAC4, HDAC in regulation of skeletal myogenesis
  • important for smooth muscle myosin heavy chain gene regulation
  • mediating calcium-dependent transcription of the interleukin-2 gene in T lymphocytes
  • implicated in neuronal activity-dependent cell survival, and may be regulate excitatory synapse number and postsynaptic differentiation of dendrites
  • implicated in the regulation of adult bone mass
  • involved in the inducible expression of NOX1/NADPH oxidase, a vascular superoxide-producing enzyme
  • important component in GNA13-mediated angiogenesis
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding to myocyte-specific enhancer
    RNA
    small molecule
    protein
  • binding to TWIST to inhibit myogenesis
  • binding to members of the MyoD family of transcriptional activator
  • interacting with NFATC2
  • binding SUV39H1 and CABIN1 (targeting its promoter in a calcium-dependent manner)
  • cooperates with CREBBP and EP300 in acetylating histones
  • cell & other
    REGULATION
    repressed by HDAC4 through multiple independent repressive domains
    Other negatively regulated by MITR in association with HDAC1
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    of endogenous GNA13 and MEF2 proteins in endothelial cells reduced cell proliferation and capillary tube formation
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS