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FLASH GENE
Symbol FNDC3B contributors: mct/pg - updated : 17-06-2015
HGNC name fibronectin type III domain containing 3B
HGNC id 24670
Location 3q26.31      Physical location : 171.757.417 - 172.118.490
Synonym name
  • factor for adipocyte differentiation 104
  • HCV NS5A-binding protein 37
  • Synonym symbol(s) FAD104, FLJ23399, PRO4979, YVTM2421, DKFZp762K137, NS5ABP37
    DNA
    TYPE functioning gene
    STRUCTURE 361.08 kb     26 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    26 - 7027 132.9 1204 - 2004 15527760
    26 - 6954 132.9 1204 - 2004 15527760
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveintestinelarge intestinecolon  
    Endocrineadrenal gland    
    Hearing/Equilibriumear   highly
    Reproductivefemale systemplacenta  highly
     female systembreastmammary gland highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    not specificadipocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period
    Text strongly expressed in the developing lung (
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a fibronectin type III domain
  • a transmembrane domain
  • HOMOLOGY
    interspecies homolog to murine Fndc3b (92.9pc)
    Homologene
    FAMILY
  • fibronectin type III domain containing protein (FNDC3) family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,nucleus
    text
  • transiently expressed at the early stage of adipocyte differentiation
  • localizes to the Golgi network, and its correct localization is essential for its transforming function
  • basic FUNCTION
  • functioning as a positive regulator of adipogenesis
  • plays important roles in adipocyte differentiation
  • essential for the survival of newborns just after birth and important for cell proliferation, adhesion, spreading and migration
  • reciprocally regulates differentiation of adipocytes and osteoblast, and functions as a positive regulator in adipocyte differentiation and as a negative regulator in osteoblast differentiation
  • regulator of adipogenesis and osteogenesis
  • having an indispensable role in lung maturation, especially the maturation and differentiation of ATII cells
  • is an important oncogenic driver gene of the 3q amplicon, adding to the growing list of oncogenic drivers within this commonly amplified region
  • CELLULAR PROCESS cell life, differentiation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to elevated intraocular pressure (IOP)
  • to primary open-angle glaucoma
  • to keratoconus, and primary open-angle glaucoma
  • Variant & Polymorphism SNP
  • rs6445055 influencing intraocular pressure and susceptibility to glaucoma
  • rs4894535 in FNDC3B strongly associated to keratoconus, and primary open-angle glaucoma
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • fad104-deficient mice died immediately after birth, suggesting fad104 to be essential for neonatal survival
  • murine fad104 disruption caused craniosynostosis-like premature ossification of the calvarial bone