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FLASH GENE
Symbol FRG2 contributors: mct/ - updated : 08-06-2013
HGNC name FSHD region gene 2
HGNC id 19136
Location 4q35.2      Physical location : 29.340 - 190.948.412
Synonym name
  • facioscapulohumeral muscular dystrophy region gene 2
  • FSHD region gene 2 protein
    • Synonym symbol(s) FRG2A
    DNA
    TYPE functioning gene
    STRUCTURE 2.89 kb     4 Exon(s)
    regulatory sequence Promoter (CAAT box) (TATA box)
    text structure
  • D4Z4 enhancer directly contacts the FRG2 and DUX4L9 promoters
    • MAPPING cloned Y linked N status provisional
    regionally located 37 kb proximal to D4Z4
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 2084 - 278 - 2004 15520407
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Muscularmyoblast
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a potential C-terminal peroxisomal PTS1 signal
  • two putative nuclear localization signal
    • HOMOLOGY
    Homologene
    FAMILY
  • FRG2 family
    • CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION unknown
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • KLF15 is a specific activator of FRG2 (the regulation of FRG2 expression by KLF15 is direct rather than through the action of myogenic factors)
    • cell & other
    REGULATION
    activated by
  • when overexpressed, KLF15 activated the D4Z4 enhancer and led to overexpression of DUX4L9 and FRG2
    • Other regulated by MECP2 which interacts directly with YY1
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --other  
    in differentiating myoblasts of FSHD
    constitutional       gain of function
    in FSHD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS