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FLASH GENE
Symbol FLNC contributors: mct - updated : 18-10-2023
HGNC name filamin C, gamma
HGNC id 3756
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal actin-binding domain followed by
  • 24 immunoglobulin-like repeats with two intervening calpain-sensitive hinges separating R15 and R16 (hinge 1) and R23 and R24 (hinge-2)
  • a C-terminal self-association domain, part of the dimerization region
  • conjugated RiboP
    HOMOLOGY
    Homologene
    FAMILY
  • filamin family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    text
  • localized in the Z-disc due to the unique insertion of 82 amino acid residues in repeat 20 and necessary for normal Z-disc formation that connect sarcomeres.
  • basic FUNCTION
  • dimeric actin cross-linking phosphoprotein
  • may be involved in reorganizing the actin
  • cytoskeleton in response to signaling events, and may be also displaying structural functions at the
    Z-disks in muscle cells
  • is essential for sarcomere attachment to the plasmatic membrane
  • possible role of FLNC as a mechanosensor during muscle contraction
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with KY for sarcomere formation and/or stabilization
  • interacting with SORBS1 (Zhang 2007)
  • SYNPO2 is a novel filamin C binding partner, and interacts with filamin C immunoglobulin-like domains 20-21 (Linnemann 2010)
  • FLNC is an interacting partner of HSPB7, and HSPB7 is essential for maintaining muscle integrity, which is achieved through its interaction with FLNC
  • RTN4 interacted with FLNC, suggesting a role for RTN4 in cytoskeletal arrangement during myogenesis
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MYFM , MPD4 , ARVD15
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • FLNC expression is a useful biomarker of esophageal squamous cell carcinoma (ESCC) metastatic tendency
  • Therapy target
    SystemTypeDisorderPubmed
    cancerdigestiveoesophagus
    inhibiting FLNC function may be useful to control the metastasis of ESCC
    ANIMAL & CELL MODELS