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FLASH GENE
Symbol FZD9 contributors: mct - updated : 24-08-2011
HGNC name frizzled homolog 9 (Drosophila)
HGNC id 4047
Location 7q11.23      Physical location : 72.848.108 - 72.850.449
Synonym symbol(s) FZD3
DNA
TYPE functioning gene
STRUCTURE 2.34 kb     1 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map cen - FZD9 - STX1A - [ELN - LIMK1 - RFC2 ] - qter
Authors Wang (97),Osborne (97)
Physical map
LOC389514 7 hypothetical gene supported by BC042156; BC051888; NM_018264 LOC389515 7 similar to Shwachman-Bodian-Diamond syndrome protein (CGI-97) POM121 7q11.23 POM121 membrane glycoprotein (rat) WBSCR20C 7q11.23 POM121 membrane glycoprotein (rat) TRIM50C 7 tripartite motif-containing 50C LOC389516 7 hypothetical gene supported by BC002581; NM_012447 LOC389517 7 similar to Williams Beuren syndrome chromosome region 19 GTF2IP1 7q11.23 general transcription factor II, i, pseudogene 1 LOC389518 7 similar to Neutrophil cytosolic factor 1 LOC389519 7 similar to transcription factor GTF2IRD2 LOC389520 7 similar to Nuclear envelope pore membrane protein POM 121 (Pore membrane protein of 121 kDa) (P145) WBSCR20A 7q11.23 Williams Beuren syndrome chromosome region 20A TRIM50A 7q11.23 tripartite motif-containing 50A FKBP6 7q11.23 FK506 binding protein 6, 36kDa FZD9 7q11.23 frizzled homolog 9 (Drosophila) BAZ1B 7q11.23 bromodomain adjacent to zinc finger domain, 1B BCL7B 7q11.23 B-cell CLL/lymphoma 7B TBL2 7q11.23 transducin (beta)-like 2 WBSCR14 7q11.23 Williams Beuren syndrome chromosome region 14 WBSCR24 7q11.23 Williams Beuren syndrome chromosome region 24 STX1A 7q11.23 syntaxin 1A (brain) WBSCR18 7q11.23 Williams Beuren syndrome chromosome region 18 WBSCR22 7q11.23 Williams Beuren syndrome chromosome region 22 WBSCR21 7q11.23 Williams Beuren syndrome chromosome region 21 CLDN3 7q11.23 claudin 3 CLDN4 7q11.23 claudin 4 WBSCR27 7q11.23 claudin 4 WBSCR28 7q11.23 Williams-Beuren syndrome critical region 28 ELN 7q11.23 elastin (supravalvular aortic stenosis, Williams-Beuren syndrome) LIMK1 7q11.23 LIM domain kinase 1 WBSCR1 7q11.23 Williams-Beuren syndrome chromosome region 1 WBSCR5 7q11.23 Williams-Beuren syndrome chromosome region 5 RFC2 7q11.23 replication factor C (activator 1) 2, 40kDa CYLN2 7q11.23 cytoplasmic linker 2
regionally located located in the WBS1 deletion
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
1 - 2342 - 591 - 1999 10198163
EXPRESSION
Rna function mRNAs expressed specifically in adult spiral ganglion neurons (
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbraindiencephalonhypothalamus  
 brainlimbic systemhippocampus   Homo sapiens
Reproductivemale systemtestis   
Urinarykidney    
Visualeye    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text
  • brain, developing neural tube
  • found in the growth cones of adult spiral ganglion neurons
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • receptor consisting of a N terminal cysteine-rich domain, seven transmembrane segments (7TM)
  • one FZD domain for ligand binding
  • a C terminal hydrophilic segment,comprising the S/T-X-X-X-W motif
  • HOMOLOGY
    interspecies homolog to Drosophila frizzled polarity gene
    Homologene
    FAMILY G protein coupled receptor superfamily
    CATEGORY receptor membrane G
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    intracellular,nuclear envelope
    basic FUNCTION
  • activating Dishevelled
  • exhibiting characteristics of a WNT receptor
  • critical determinant of hippocampal development and is very likely to be a contributing factor to the neurodevelopmental and behavioral phenotype of patients with Williams syndrome
  • receptor of Wnt ligands, playing key roles in liver carcinogenesis
  • having a function in osteoblasts, a finding that may have therapeutic implications for bone loss disorders (
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    transmetting WNT signal in brain
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • WNT2 could act through its receptor FZD9 to regulate the CTNNB pathway in cumulus cells, recruiting CTNNB into plasma membranes and promoting the formation of adherens junctions involving CDH1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerdigestiveliver
    FZD9-siRNA could represent a useful therapeutic target for hepatocellular carcinoma (HCC) and hepatoblastoma (HB)
    ANIMAL & CELL MODELS
  • Fzd9(-/-) mice display low bone mass caused by impaired bone formation
  • Frizzled 9-null mice had generally normal gross anatomical hippocampal organization but showed large increases in apoptotic cell death in the developing dentate gyrus