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FLASH GENE
Symbol FRZB contributors: MCT - updated : 14-12-2018
HGNC name frizzled-related protein
HGNC id 3959
Location 2q32.1      Physical location : 183.698.004 - 183.731.498
Synonym name
  • frezzled
  • frizzled-related protein 1
  • secreted frizzled-related protein 3
  • Synonym symbol(s) FZDS3, SFRP3, FRZB1, FRE, FZRB, hFIZ, FRITZ, FRP3, FRZB-PEN, SRFP3
    DNA
    TYPE functioning gene
    STRUCTURE 33.50 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Physical map
    FLJ30990 2q31.3 hypothetical protein FLJ30990 FLJ13946 2q31.3 hypothetical protein FLJ13946 PDE11A 2q31 phosphodiesterase 11A HCP9 2q31.2 cytochrome c, somatic pseudogene DRB1 2q31.3 developmentally regulated RNA-binding protein 1 OSBPL6 2q31-q32.1 oxysterol binding protein-like 6 PRKRA 2q31.2 protein kinase, interferon-inducible double stranded RNA dependent activator NUDCP2 2q31 nuclear distribution gene C homolog (A. nidulans) pseudogene 2 FKBP7 2q31.2 FK506 binding protein 7 PLEKHA3 2q31.2 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3 TTN 2q24.3-q31 titin FLJ39502 2q31.3 hypothetical protein FLJ39502 DKFZp434O0515 FLJ25270 LOC389065 2 similar to RIKEN cDNA B830010L13 gene LOC391466 2 similar to dim1 KIAA1604 2q32.1 KIAA1604 protein UBE2E3 2q32.1 ubiquitin-conjugating enzyme E2E 3 (UBC4/5 homolog, yeast) ITGA4 2q31-q32 integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) LOC151274 2q32.1 similar to Ceramide kinase (Acylsphingosine kinase) (mCERK) NEUROD1 2q32 neurogenic differentiation 1 SSFA2 2q32.1 sperm specific antigen 2 LOC344318 2q32.1 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) LOC151242 2q32.1 protein phosphatase 1 regulatory subunit 1A PDE1A 2q32 phosphodiesterase 1A, calmodulin-dependent ERdj5 2q32.1 ER-resident protein ERdj5 FRZB 2q24-q31 frizzled-related protein NCKAP1 2q32 NCK-associated protein 1 LOC344320 2q32.1 similar to keratin 8, type II cytoskeletal - human DUSP19 2q32.1 dual specificity phosphatase 19 LOC129401 2q32.1 mitotic phosphoprotein 44 LOC129402 2q32.1 similar to lin-28 homolog; RNA-binding protein LIN-28; zinc finger, CCHC domain containing 1 LOC150503 2q32.1 similar to calcyclin binding protein LOC91752 2q32.1 similar to C630007C17Rik protein PRO2964 2q32.1 hypothetical protein PRO2964 LOC389066 2 LOC389066 LOC151273 2q32.1 similar to E74-like factor 2 (ets domain transcription factor); new Ets-related factor FLJ34780 2q32.1 hypothetical protein FLJ34780 LEREPO4 2q32.2 likely ortholog of mouse immediate early response, erythropoietin 4 ITGAV 2q31-q32.1 integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) KIAA1946 2q32.2 KIAA1946 protein ZSWIM2 2q32.2 zinc finger, SWIM domain containing 2 LOC391467 2 similar to Inosine-5-monophosphate dehydrogenase 1 (IMP dehydrogenase 1) (IMPDH-I) (IMPD 1) CALCRL 2q31.3 calcitonin receptor-like TFPI 2q31-q32.1 tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) LOC344328 2q32.2 similar to heat shock 70kD protein binding protein; progesterone receptor-associated p48 protein; putative tumor suppressor ST13; Hsp70-interacting protein
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 2775 - 325 - 1997 9118218
    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