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FLASH GENE
Symbol FRZB contributors: MCT - updated : 14-12-2018
HGNC name frizzled-related protein
HGNC id 3959
PROTEIN
PHYSICAL PROPERTIES Hydrophilic
STRUCTURE
motifs/domains
  • a frizzled-like cysteine-rich domain and a conserved hydrophilic carboxyterminal domain
  • one NTR domain
  • 25 AA signal peptide
  • HOMOLOGY
    interspecies homolog to Drosophila frizzled polarity
    homolog to rattus Frzb (91.33 pc)
    homolog to murine Frzb (91.95 pc)
    Homologene
    FAMILY SFRP family of WNT inhibitors family
    CATEGORY tumor suppressor , signaling
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • likely involved in WNT binding and signal transduction
  • may be involved in morphogenesis of the skeleton
  • may have a tumor suppressive potential in osteogenic sarcoma (OGS)
  • secreted Wnt antagonist, exhibiting potent antitumor activity against prostate cancer, an epithelial type of malignancy
  • may play an important role in metastatic renal cancer
  • its expression promotes cell growth, invasion, and inhibition of apoptosis in renal cancer cells
  • with others SFRP family of WNT inhibitors members, function as novel tumor suppressor gene epigenetically silenced in medulloblastoma
  • essential functions of BCL11A in neuronal morphogenesis and sensory wiring of the dorsal spinal cord and FRZB, a component of the WNT pathway, is a downstream acting molecule involved in this process
  • SFRP1 and FRZB act as WNT signaling pathway antagonists and play an important role in embryonic development and carcinogenesis
  • CELLULAR PROCESS cell life
    PHYSIOLOGICAL PROCESS development , ossification
    text bone development, maintenance
    PATHWAY
    metabolism
    signaling
    COL6A1, COL6A2, CRELD1, FBLN2, FRZB, and GATA5 harboring purportedly deleterious case-specific variants in atrioventricular septal defects (AVSD)are associated in some way with VEGFA
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • upstream regulator of VEGFA expression
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   translocation    
  • osteogenic sarcoma (OGS) induced by silent expression of FRZB
  • silent mechanism not yet known
  • constitutional     --over  
    in failing ventricles and ventricular myocardium
    tumoral     --low  
    in malignant melanoma tumors as compared to normal/benign tissue
    constitutional     --low  
    of FRZB may contribute to the pathogenesis of IUGR placental dysfunction, whereas the loss of the protein may be involved in the development of human trophoblastic tumors
    Susceptibility
  • to hip osteoarthritis in the female
  • to atrioventricular septal defects
  • Variant & Polymorphism Arg200Trp and Arg324Gly increasing the risk factor for primary hip osteoarthritis in the female
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancer  
    usefulness of FRZB in modulating MET signaling as a new treatment strategy for soft tissue sarcomas
    ANIMAL & CELL MODELS