Aliases for FZD9 Gene
External Ids for FZD9 Gene
Previous GeneCards Identifiers for FZD9 Gene
Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD9 gene is located within the Williams syndrome common deletion region of chromosome 7, and heterozygous deletion of the FZD9 gene may contribute to the Williams syndrome phenotype. FZD9 is expressed predominantly in brain, testis, eye, skeletal muscle, and kidney. [provided by RefSeq, Jul 2008]
GeneCards Summary for FZD9 Gene
FZD9 (Frizzled Class Receptor 9) is a Protein Coding gene. Diseases associated with FZD9 include Exudative Vitreoretinopathy and Williams-Beuren Syndrome. Among its related pathways are Wnt Signaling Pathways: beta-Catenin-independent Wnt/PCP Signaling Pathways and Reelin Pathway (Cajal-Retzius cells). GO annotations related to this gene include G-protein coupled receptor activity and protein heterodimerization activity. An important paralog of this gene is FZD10.
UniProtKB/Swiss-Prot for FZD9 Gene
Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues.