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FLASH GENE
Symbol FLNC contributors: mct - updated : 23-08-2010
HGNC name filamin C, gamma
HGNC id 3756
Corresponding disease
MPD4 distal myopathy-4
MYFM myofibrillar myopathy
Location 7q32.1      Physical location : 128.470.482 - 128.499.327
Synonym name
  • filamin C, gamma (actin binding protein 280)
  • actin binding protein, dystrophin-like (APB280)
  • filamin 2
  • ABP-280-like protein
  • Synonym symbol(s) ACBL, ABPA, ABPL, FLN2, ABP-280, ABP280A, FLJ10186
    DNA
    TYPE functioning gene
    STRUCTURE 28.85 kb     48 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - D7S686 - D7S530 - FLNC - D7S649 - qter
    Authors Charakova (00)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    48 - 9149 - 2725 - Liu (1997)
    47 - 9050 - 2692 - Liu (1997)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Respiratoryrespiratory tractlarynx  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal specific Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three functional domains : an N-terminal filamentous actin-binding domain (ABD)
  • a membrane glycoprotein-binding domain
  • two calponin-homology (CH) domains
  • 24 filamin repeats
  • a dimerization domain
  • a C-terminal self-association domain, part of the dimerization region
  • conjugated RiboP
    HOMOLOGY
    Homologene
    FAMILY
  • filamin family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    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
    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)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MYFM , MPD4
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS