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FLASH GENE
Symbol MBNL2 contributors: mct/pgu - updated : 17-10-2015
HGNC name muscleblind-like 2 (Drosophila)
HGNC id 16746
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a C3H1-type zinc finger
  • four CCCH zinc finger motifs (ZF1-4)
  • HOMOLOGY
    interspecies homolog to murine AI047808
    intraspecies paralog to MBNL1, MBNL3
    Homologene
    FAMILY
  • muscleblind family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    text
  • co-localizing with foci in DM1 and DM2 cells
  • throughout the cytoplasm and nucleus in normal cells
  • basic FUNCTION
  • may play a role in myotonic dystrophy pathophysiology
  • participates in a new RNA-dependent protein localization mechanism involving recruitment of integrin alpha3 protein to focal adhesions
  • involved in the differentiation of muscle inclusion by controlling the splicing patterns of several pre-mRNAs
  • MBNL1, MBNL2, MBNL3 plays important roles in muscle and eye development and in myotonic dystrophy (DM), in which expanded CUG or CCUG repeats functionally deplete MBNL proteins
  • central and negative regulatory role for MBNL1, MBNL2 proteins in pluripotency
  • depletion of MBNL1 and/or MBNL2 reduced localization of hundreds of transcripts, implicating MBLN1, 2, 3 in localization of mRNAs to neurites
  • CELLULAR PROCESS nucleotide, RNA splicing
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
  • MBNL1, MBNL2, MBNL3 bind to hundreds of pre- and mature mRNAs to regulate their alternative splicing, alternative polyadenylation, stability and subcellular localization
  • small molecule metal binding,
  • Zn2+
  • protein
  • MBNL1 and MBNL2 bind to nascent transcripts to regulate alternative splicing during muscle and brain development
  • MBNL1, MBNL2, MBNL3 are capable of fine-tuning cellular content of MBNL1, by binding to the first coding exon (e1) of its pre-mRNA
  • cell & other
    REGULATION
    Other abundance of MBNL2 transcripts and protein are controlled by an adrenergic/cAMP mechanism
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Mbnl2-deficient mice develop myotonia and have skeletal muscle pathology consistent with human DM
  • Mbnl2 knockout mice develop several myotonic dystrophy-associated central nervous system (CNS) features including abnormal REM sleep propensity and deficits in spatial memory
  • depletion of Mbnl proteins in mouse embryo fibroblasts leads to misregulation of thousands of alternative polyadenylation events