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FLASH GENE
Symbol BFSP2 contributors: mct/npt - updated : 26-10-2018
HGNC name beaded filament structural protein 2, phakinin
HGNC id 1041
Corresponding disease
ADCC3 cataract, autosomal dominant, multiple types
Location 3q22.1      Physical location : 133.118.789 - 133.194.056
Synonym name
  • lens intermediate filament like-light
  • cytoskeletal protein 49kDa
  • cytoskeletal protein 47kDa
  • lens fiber cell beaded filament protein CP 49
  • 49 kDa cytoskeletal protein
  • phakosin
  • phakinin
  • Synonym symbol(s) LIFL, CP49, CP47, phakinin, MGC142078, MGC142080
    DNA
    TYPE functioning gene
    STRUCTURE 75.30 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 1644 45.9 415 - Carter (2000)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Visualeyelens  predominantly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connective    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text expressed during the formation of the eye in lens, eye anterior segment
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal LEAD domain,
  • a helix initiation motif (HIM)
  • a helix termination motif (HTM
  • an alpha helical rod domain with heptad repeats, lacking the C terminal tail
  • secondary structure forming coiled coil dimers
    mono polymer heteromer , dimer
    HOMOLOGY
    interspecies ortholog to murine Bfsp2
    Homologene
    FAMILY
  • intermediate filament family, type VI
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,cytoskeleton,intermed filament
    basic FUNCTION
  • structural constituent of eye lens
  • regulating the protein levels of its assembly partner filensin, suggesting a mechanism for the regulation of beaded filament protein stoichiometry
  • assemble into a beaded filament (BF) rather than an intermediate filament (IF)
  • critical role for BFSP1, BFSP2 and their filamentous polymers in establishing the optical properties of the eye lens and in maintaining its transparency
  • BFSP1, BFSP2 are essential to the optical properties of the lens
  • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
  • heterodimerizing with BFSP1
  • major components of the beaded filament, a cytoskeletal structure that is abundant in the fiber cells of the ocular lens
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ADCC3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS