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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)
    Physical map
    NSG-X 7q31 brain and nasopharyngeal carcinoma susceptibility protein LRRC4 7q31 leucine rich repeat containing 4 LEP 7q31.3 leptin (obesity homolog, mouse) MGC27345 7q32.2 hypothetical protein MGC27345 FLJ10377 7q32.2 hypothetical protein FLJ10377 LOC389551 7 hypothetical gene supported by BC063892 IMPDH1 7q31.3-q32 IMP (inosine monophosphate) dehydrogenase 1 HIG2 7q32.2 hypoxia-inducible protein 2 METTL2 17q24.1 methyltransferase like 2 LOC389552 7 similar to Serine/threonine-protein kinase tousled-like 2 (Tousled-like kinase 2) (PKU-alpha) LOC389553 7 hypothetical gene supported by AL137733 LOC389554 7 hypothetical gene supported by BC062355 LOC392095 7 similar to capicua homolog LOC346653 7q32.2 hypothetical protein LOC346653 NYD-SP18 7q32.2-q32.3 testes development-related NYD-SP18 CALU 7q32 calumenin OPN1SW 7q31.3-q32 opsin 1 (cone pigments), short-wave-sensitive (color blindness, tritan) DKFZP434G156 7q33 hypothetical protein DKFZp434G156 FLNC 7q32 filamin C, gamma (actin binding protein 280) ATP6V1F 7q32 ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F LOC389555 7 similar to Filamin C (Gamma-filamin) (Filamin 2) (Protein FLNc) (Actin-binding like protein) (ABP-L) (ABP-280-like protein) IRF5 7q32 interferon regulatory factor 5 TNPO3 7q32.3 transportin 3 LOC392096 7 similar to Triosephosphate isomerase (TIM) HCP20 7q32.3 cytochrome c, somatic pseudogene LOC286017 7q32.3 similar to mitogen-activated protein kinase kinase 2; mitogen-activated protein kinase kinase 2, p45; MAP kinase kinase 2; MAPK/ERK kinase 2; dual specificity mitogen-activated protein kinase kinase 2; ERK activator kinase 2 MGC50844 7q32.3 hypothetical protein MGC50844 LOC154981 7q32.3 hypothetical LOC154981 SMO 7q31 smoothened homolog (Drosophila) KIAA0828 7q32.3 KIAA0828 protein KIAA1170 7q32.3 KIAA1170 protein NRF1 7q32 nuclear respiratory factor 1 UBE2H 7q32 ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)
    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