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FLASH GENE
Symbol FZD6 contributors: mct - updated : 25-10-2011
HGNC name frizzled homolog 6 (Drosophila)
HGNC id 4044
Corresponding disease
NDI isolated nail dysplasia
Location 8q22.3      Physical location : 104.310.660 - 104.345.092
Synonym name
  • frizzled-6
  • seven transmembrane helix receptor
  • Synonym symbol(s) HFZ6
    DNA
    TYPE functioning gene
    STRUCTURE 34.00 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 3779 77.2 706 - -
    - - 3691 75.5 674 - -
    7 - 3806 77.2 706 - -
    EXPRESSION
    Rna function mRNAs expressed specifically in adult spiral ganglion neurons (
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth   highly
    Endocrinethyroid   highly
    Respiratoryrespiratory tracttrachea  highly
     respiratory tractlarynx  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text tissues
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal cysteine-rich domain
  • seven transmembrane segments (7TM) without the C terminal S/T-X-X-X-W motif
  • HOMOLOGY
    interspecies homolog to Drosophila frizzled polarity gene
    Homologene
    FAMILY
  • G-protein coupled receptor Fz/Smo family
  • 'frizzled' gene family
  • CATEGORY receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • activating Dishevelled
  • involved in signal transduction
  • exhibiting characteristics of a WNT receptor
  • repressingthe canonical Wnt cascade activated also by various Wnt signaling intracellular mediators such as Dishevelled-1
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • homotypic intracellular interactions of CELSR1 are required to recruit VANGL2 and FZD6 to sites of cell-cell contact (Devenport 2008)
  • DVL1 regulates precoupling of heterotrimeric G proteins to FZD6
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NDI
    Susceptibility to neural tube defects (NTD)
    Variant & Polymorphism SNP
  • nonsynonymous variants in FZD6 may contribute to NTD
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS