|Frizzled class receptor 4|
|Symbols||; CD344; EVR1; FEVR; FZD4S; Fz-4; Fz4; FzE4; GPCR; hFz4|
|External IDs||IUPHAR: GeneCards:|
|RNA expression pattern|
Frizzled-4 is a protein that in humans is encoded by the FZD4 gene. FZD4 has also been designated as CD344 (cluster of differentiation 344). 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. Frizzled-4 is the only representative of frizzled family members that binds strongly an additional ligand Norrin that is functionally similar but structurally different from Wingless type proteins. FZD4 signaling induced by Norrin regulates vascular development of vertebrate retina and controls important blood vessels in the ear. 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.
- Kirikoshi H, Sagara N, Koike J, Tanaka K, Sekihara H, Hirai M, Katoh M (Dec 1999). "Molecular cloning and characterization of human Frizzled-4 on chromosome 11q14-q21". Biochem Biophys Res Commun 264 (3): 955–61.
- Toomes C, Bottomley HM, Jackson RM, Towns KV, Scott S, Mackey DA, Craig JE, Jiang L, Yang Z, Trembath R, Woodruff G, Gregory-Evans CY, Gregory-Evans K, Parker MJ, Black GC, Downey LM, Zhang K, Inglehearn CF (Mar 2004). "Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q". Am J Hum Genet 74 (4): 721–30.
- "Entrez Gene: FZD4 frizzled homolog 4 (Drosophila)".
- Li Y, Fuhrmann C, Schwinger E et al. (1992). "The gene for autosomal dominant familial exudative vitreoretinopathy (Criswick-Schepens) on the long arm of chromosome 11". Am. J. Ophthalmol. 113 (6): 712–3.
- Tanaka S, Akiyoshi T, Mori M et al. (1998). "A novel frizzled gene identified in human esophageal carcinoma mediates APC/β-catenin signals". Proc. Natl. Acad. Sci. U.S.A. 95 (17): 10164–9.
- Sagara N, Kirikoshi H, Terasaki H et al. (2001). "FZD4S, a splicing variant of frizzled-4, encodes a soluble-type positive regulator of the WNT signaling pathway". Biochem. Biophys. Res. Commun. 282 (3): 750–6.
- Takeda S, Kadowaki S, Haga T et al. (2002). "Identification of G protein-coupled receptor genes from the human genome sequence". FEBS Lett. 520 (1–3): 97–101.
- Hering H, Sheng M (2002). "Direct interaction of Frizzled-1, -2, -4, and -7 with PDZ domains of PSD-95". FEBS Lett. 521 (1–3): 185–9.
- Robitaille J, MacDonald ML, Kaykas A et al. (2002). "Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy". Nat. Genet. 32 (2): 326–30.
- Strausberg RL, Feingold EA, Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903.
- Chen W, ten Berge D, Brown J et al. (2003). "Dishevelled 2 recruits beta-arrestin 2 to mediate Wnt5A-stimulated endocytosis of Frizzled 4". Science 301 (5638): 1391–4.
- Toomes C, Downey LM, Bottomley HM et al. (2004). "Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR)". Mol. Vis. 10: 37–42.
- Yao R, Natsume Y, Noda T (2005). "MAGI-3 is involved in the regulation of the JNK signaling pathway as a scaffold protein for frizzled and Ltap". Oncogene 23 (36): 6023–30.
- Toomes C, Bottomley HM, Scott S et al. (2004). "Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy". Invest. Ophthalmol. Vis. Sci. 45 (7): 2083–90.
- Omoto S, Hayashi T, Kitahara K et al. (2004). "Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R)". Ophthalmic Genet. 25 (2): 81–90.
- Yoshida S, Arita R, Yoshida A et al. (2004). "Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy". Am. J. Ophthalmol. 138 (4): 670–1.
- Gerhard DS, Wagner L, Feingold EA et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7.
- Qin M, Hayashi H, Oshima K et al. (2006). "Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes". Hum. Mutat. 26 (2): 104–12.
- Nallathambi J, Shukla D, Rajendran A et al. (2006). "Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy". Mol. Vis. 12: 1086–92.
- Planutis K, Planutiene M, Moyer MP et al. (2007). "Regulation of norrin receptor frizzled-4 by Wnt2 in colon-derived cells". BMC Cell Biol. 8: 12.
- "4"Frizzled Receptors: FZD. IUPHAR Database of Receptors and Ion Channels. International Union of Basic and Clinical Pharmacology.]
- GeneReviews/NCBI/NIH/UW entry on Familial Exudative Vitreoretinopathy, Autosomal Dominant