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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
Location 19p13.11      Physical location : 19.256.375 - 19.281.098
Synonym name
  • serum response factor-like protein 23
  • MADS box transcription enhancer factor 2, polypeptide B (myocyte enhancer factor 2B)
    • Synonym symbol(s) RSRFR2, XMEF2, FLJ32648
    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