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FLASH GENE
Symbol FZD5 contributors: mct/npt - updated : 31-03-2017
HGNC name frizzled homolog 5 (Drosophila)
HGNC id 4043
Corresponding disease
CLBM1 isolated ocular coloboma 1
Location 2q33.3      Physical location : 208.627.311 - 208.634.143
Synonym name
  • seven-transmembrane receptor frizzled-5
  • chromosome 2 open reading frame 31
  • Wnt receptor
  • frizzled 5
  • Synonym symbol(s) HFZ5, C2orf31, MGC129692, FzE5, Fz-5
    DNA
    TYPE functioning gene
    STRUCTURE 6.83 kb     1 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure POU-binding site linked to SP1-binding site within FZD5 promoter
    MAPPING cloned Y linked N status provisional
    Physical map
    CPO 3q12 coproporphyrinogen oxidase (coproporphyria, harderoporphyria) KLF7 2q32 Kruppel-like factor 7 (ubiquitous) LOC389071 2 LOC389071 CREB1 2q32-q34 cAMP responsive element binding protein 1 LOC151194 2q34 similar to hepatocellular carcinoma-associated antigen HCA557b LOC391476 2 similar to PPP1R14B protein FLJ40432 2q34 hypothetical protein FLJ40432 FZD5 2q33-q34 frizzled homolog 5 (Drosophila) LOC389072 2 similar to RIKEN cDNA 9430067K14 gene; Ras GTPase-activating protein 1 (GTPase-activating protein) (GAP) (Ras p21 protein activator) (p120GAP) (RasGAP) LOC391477 2 similar to ribosomal protein L9; 60S ribosomal protein L9 LOC344471 2q34 similar to dJ999L4.1 (novel protein similar to ribosomal protein L12 (RPL12)) CRYGEP1 2q33-q35 crystallin, gamma E pseudogene 1 CRYGD 2q33-q35 crystallin, gamma D CRYGC 2q33-q35 crystallin, gamma C CRYGB 2q33-q35 crystallin, gamma B CRYGA 2q33-q35 crystallin, gamma A LOC389073 2 similar to RIKEN cDNA D630023F18 LOC130429 2q34 similar to 40S ribosomal protein SA (P40) (34/67 kDa laminin receptor) (Colon carcinoma laminin-binding protein) (NEM/1CHD4) (Multidrug resistance-associated protein MGr1-Ag) IDH1 2q32-qter isocitrate dehydrogenase 1 (NADP+), soluble PIP5K3 2q34 phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III LOC391478 2 similar to ARP2/3 complex 41 kDa subunit (P41-ARC) (Actin-related protein 2/3 complex subunit 1B) PTHR2 2q33 parathyroid hormone receptor 2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 6584 61.9 585 - 2001 11408929
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon highly
    Endocrinepancreas   moderately
    Reproductivemale systemprostate  moderately
    Urinarykidney   moderately
    Visualeye   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text liver highly, lung lowly
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal cysteine-rich domain
  • a conserved extracellular cysteine rich domain for ligand binding
  • seven transmembrane segments (7TM)
  • a C terminal hydrophilic segment, comprising the S/T-X-X-X-W motif
  • HOMOLOGY
    interspecies homolog to Drosophila frizzled polarity gene 5
    homolog to Xenopus WNT5A
    Homologene
    FAMILY
  • G-protein coupled receptor FZ/SMO family
  • CATEGORY receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    text
  • after internalization, it appears that FZD5 is recycled back to the plasma membrane
  • basic FUNCTION
  • exhibiting characteristics of a WNT receptor
  • involved in signal transduction
  • may be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues
  • WNT5A and its receptor Frizzled-5 regulate inflammatory responses of human mononuclear cells induced by microbial stimulation
  • functioning as WNT5A receptor, and key molecule in the fields of oncology
  • central role for FZD5 signaling in mammalian eye development and are likely to be relevant to the etiology of congenital human ocular anomalies
  • mediates the synaptogenic effect of WNT7A and its localization to synapses is regulated by neuronal activity, a process that depends on endogenous Wnts
  • FZD5 and FZD8 are involved in dose-dependent regulation of signaling in optic fissure/disc formation and progenitor expansion
  • GCM1 and FZD5 function in an evolutionary conserved positive feedback loop that regulates trophoblast differentiation and sites of chorionic branching morphogenesis
  • potential role of FZD5 in neuronal polarization
  • has a role in the establishment of neuronal polarity, and in the morphogenesis of neuronal processes, in part through the activation of the non-canonical Wnt mechanism involving JNK
  • conserved role of Wnt-Frizzled (FZD) signaling in ocular development and directly implicate WNT-FZD signaling both in normal closure of the optic fissure and pathogenesis of coloboma
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
  • WNT5AFZD5 signaling in macrophages promotes phagocytosis through lipid raft clustering concomitant with RAC1PI3 kinaseIKB kinase activation
  • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • activating Dishevelled
  • receptor for the WNT5A ligand (to induce the beta- catenin pathway)
  • binding to WNT7A (to activate -catenin/canonical signaling and induce proliferation in endometrial cancer cells)
  • SCYL2 regulates the amount of FZD5 by inducing lysosomal degradation, which probably contributes to the suppression of the Wnt signaling pathway
  • ability of WNT5AFZD5 signaling to stimulate phagocytosis of E. coli but not its killing makes it a likely mediator of uncontrolled inflammation or sepsis during infection
  • receptor for the synaptic organizer WNT7A, regulating activity-mediated synaptogenesis
  • LGR5 interacts and forms a supercomplex with the Wnt coreceptors LRP6 and FZD5 which is rapidly internalized and then degraded
  • WNT5A may exert its stimulatory effects on macrophages through autocrine and/or paracrine modes upon binding to the FZD5 receptor
  • monocyte-secreted WNT5A interacts with FZD5 in microvascular endothelial cells and induces angiogenesis through tissue factor signaling
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CLBM1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in chronic myelogenous leukemia
    constitutional     --over  
    during the acquisition of neuronal polarity induces mislocalization of the receptor and a loss of polarized axonal markers
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Fz5(-/-) mice exhibit mild coloboma and microphthalmia at 50p100 of penetrance
  • mutant protein caused coloboma and microphthalmia in zebrafish