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FLASH GENE
Symbol FRZB contributors: MCT - updated : 14-12-2018
HGNC name frizzled-related protein
HGNC id 3959
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularvessel   predominantly Homo sapiens
Nervousbrain    
Reproductivefemale systemplacenta   
Urinarykidney   highly Homo sapiens
Visualeye    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cells
SystemCellPubmedSpeciesStageRna symbol
Cardiovascularendothelial cell Homo sapiens
not specificchondroblast
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo, fetal
Text cartilage of long bones appendicular skeleton, epiphysis, muscle, kidney, pancreas, heart
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