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 Williams-Beuren Syndrome and Exudative Vitreoretinopathy. Among its related pathways are Association Between Physico-Chemical Features and Toxicity Associated Pathways and Signaling by GPCR. Gene Ontology (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 Summary for FZD9 Gene
Receptor for WNT2 that is 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 (By similarity). Plays a role in neuromuscular junction (NMJ) assembly by negatively regulating the clustering of acetylcholine receptors (AChR) through the beta-catenin canonical signaling pathway (By similarity). May play a role in neural progenitor cells (NPCs) viability through the beta-catenin canonical signaling pathway by negatively regulating cell cycle arrest leading to inhibition of neuron apoptotic process (PubMed:27509850). During hippocampal development, regulates neuroblast proliferation and apoptotic cell death. Controls bone formation through non canonical Wnt signaling mediated via ISG15. Positively regulates bone regeneration through non canonical Wnt signaling (By similarity).