Database for Annotation, Visualization and Integrated Discovery 2.1
National Institute of Allergy and Infectious Disease
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frizzled class receptor 6(FZD6) frizzled class receptor 6(FZD6) Related Genes Homo sapiens
CYTOBAND 8q22.3-q23.1,
GENERIF_SUMMARY Frizzled 6 (HFz6) has a role as a negative regulator of the canonical Wnt. beta-catenin signaling cascade, These results suggested that activation of Wnt4/Fzd6 signaling through a "beta-catenin-independent" pathway played a role in proliferation and survival of the pituitary adenoma cells., No significant association between C345A or A664C SNPs in the FZD6 gene and bone meineral density at skeletal sites measured or circulating levels of bone turnover markers were noted., FZD6 mutations can result in severe defects in nail and claw formation through reduced or abolished membranous FZD(6) levels and several nonfunctional WNT-FZD pathways., The current study provides insight into the global changes in gene transcription mediated by chr-ECS and suggests that Fzd6 signaling could represent a novel target for development of novel antidepressants., This study demonstrates that rare nonsynonymous variants in FZD6 may contribute to NTDs in humans and enlarges the spectrum of mutations that link PCP pathway to Neural tube defects (NTDs)., Mutations in this gene cause nail dysplasia. Review., The present results emphasize the role of FZD6 mutation in Wnt pathways in nail development., When transplanted into immunodeficient mice, neuroblastoma cells expressing the Fzd6 marker grow more aggressively than their Fzd6 negative counterparts. Fzd6 is a new surface marker of aggressive neuroblastoma cells with stem cell-like features., sequence analysis revealed a novel homozygous missense mutation (c.1266G>A; p.Gly422Asp) located in the transmembrane domain of the protein FZD6 in individuals of a consanguineous family exhibiting features of nail dysplasia, FZD6 should be screened for pachyonychia congenita as it is a candidate gene for hereditary nail dysplasias., It is associated with poor prognosis in glioblastoma patients., DVL is a master regulator of FZD6/G-protein signaling, This study confirms our speculation that down-regulation of FZD6 by beta-Carotene is causally related to the observed up-regulation of cancer related genes, The rs3808553 of FZD6 is obviously associated with neural tube defects in Han population of northern China, we found that FZD6 expression was negatively regulated by miR199a5p,
OMIM_DISEASE Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails),
SP_COMMENT domain:Lys-Thr-X-X-X-Trp motif is involved in the activation of the Wnt/beta-catenin signaling pathway., domain:The FZ domain is involved in binding with Wnt ligands., function: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., similarity:Belongs to the G-protein coupled receptor Fz/Smo family., similarity:Contains 1 FZ (frizzled) domain., tissue specificity:Detected in adult heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, thymus, prostate, testis, ovary, small intestine and colon. In the fetus, expressed in brain, lung, liver and kidney.,