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FLASH GENE
Symbol FSCN2 contributors: - updated : 21-04-2007
HGNC name fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)
HGNC id 3960
Corresponding disease
ADMD2 progressive retinal pigment epithelial atrophy in the macula
RP30 retinitis pigmentosa 30
Location 17q25      Physical location : 79.495.416 - 79.504.155
Synonym name
  • retinal fascin
  • fascin 2
    • Synonym symbol(s) RFSN
    DNA
    TYPE functioning gene
    STRUCTURE 4.00 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure retinoic acid response element,CRX,Nrl (TATA)
    MAPPING cloned Y linked N status confirmed
    regionally located close to ACTG1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - splicing 1710 55 492 - Saishin
    - splicing 1780 57.4 516 - Saishin
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Visualeyeretina   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualcone photoreceptor
    Visualrod photoreceptor
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four fascin domains
  • C terminal half actin-binding domain
    • HOMOLOGY
    interspecies homolog to Drosophila singed gene
    homolog to sea urchin
    intraspecies paralog to actin-bundling protein fascin
    Homologene
    FAMILY fibroblast growth factor superfamily
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton
    text inner segment of the photoreceptors
    basic FUNCTION
  • cross-linking f-actinin to highly ordered bundles in support of photoreceptor disk morphogenesis
  • may be involved in disk morphogenesis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein f-actin, neural retina leucine zipper (NRL), cone rod homeo box (CRX)
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ADMD2 , RP30
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS