Gene: FZD4

Alternate names for this Gene: CD344|EVR1|FEVR|FZD4S|Fz-4|Fz4|FzE4|GPCR|hFz4

Gene Summary: This gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. This protein may play a role as a positive regulator of the Wingless type MMTV integration site signaling pathway. A transcript variant retaining intronic sequence and encoding a shorter isoform has been described, however, its expression is not supported by other experimental evidence.

Gene is located in Chromosome: 11

Location in Chromosome : 11q14.2

Description of this Gene: frizzled class receptor 4

Type of Gene: protein-coding

Gene: FZD4-DT

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

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rs61735304 in FZD4;FZD4-DT gene and Exudative vitreoretinopathy 1 PMID 15370539 2004 Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R).

PMID 15223780 2004 Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.

PMID 12172548 2002 Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy.

PMID 15035989 2004 Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair.

PMID 14507768 2003 Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity.

PMID 15981244 2005 Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.

PMID 15733276 2005 Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity.

PMID 17955262 2008 Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy.

PMID 15488808 2004 Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy.

PMID 17093393 2006 Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy.

PMID 19172507 2009 Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees.

PMID 19324841 2009 Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy.

PMID 20340138 2010 Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.