Biology:FZD4

Generic protein structure example

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).

Function

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.

See also

• Frizzled

Further reading

• "The gene for autosomal dominant familial exudative vitreoretinopathy (Criswick-Schepens) on the long arm of chromosome 11". American Journal of Ophthalmology 113 (6): 712–3. Jun 1992. doi:10.1016/s0002-9394(14)74800-7. PMID 1598965. 
• "A novel frizzled gene identified in human esophageal carcinoma mediates APC/beta-catenin signals". Proceedings of the National Academy of Sciences of the United States of America 95 (17): 10164–9. Aug 1998. doi:10.1073/pnas.95.17.10164. PMID 9707618. Bibcode: 1998PNAS...9510164T. 
• "FZD4S, a splicing variant of frizzled-4, encodes a soluble-type positive regulator of the WNT signaling pathway". Biochemical and Biophysical Research Communications 282 (3): 750–6. Apr 2001. doi:10.1006/bbrc.2001.4634. PMID 11401527. 
• "Identification of G protein-coupled receptor genes from the human genome sequence". FEBS Letters 520 (1–3): 97–101. Jun 2002. doi:10.1016/S0014-5793(02)02775-8. PMID 12044878. 
• "Direct interaction of Frizzled-1, -2, -4, and -7 with PDZ domains of PSD-95". FEBS Letters 521 (1–3): 185–9. Jun 2002. doi:10.1016/S0014-5793(02)02831-4. PMID 12067714. 
• "Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy". Nature Genetics 32 (2): 326–30. Oct 2002. doi:10.1038/ng957. PMID 12172548. 
• "Dishevelled 2 recruits beta-arrestin 2 to mediate Wnt5A-stimulated endocytosis of Frizzled 4". Science 301 (5638): 1391–4. Sep 2003. doi:10.1126/science.1082808. PMID 12958364. Bibcode: 2003Sci...301.1391C. 
• "Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR)". Molecular Vision 10: 37–42. Jan 2004. PMID 14737064. 
• "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. Aug 2004. doi:10.1038/sj.onc.1207817. PMID 15195140. 
• "Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy". Investigative Ophthalmology & Visual Science 45 (7): 2083–90. Jul 2004. doi:10.1167/iovs.03-1044. PMID 15223780. 
• "Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R)". Ophthalmic Genetics 25 (2): 81–90. Jun 2004. doi:10.1080/13816810490514270. PMID 15370539. 
• "Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy". American Journal of Ophthalmology 138 (4): 670–1. Oct 2004. doi:10.1016/j.ajo.2004.05.001. PMID 15488808. 
• "Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes". Human Mutation 26 (2): 104–12. Aug 2005. doi:10.1002/humu.20191. PMID 15981244. 
• "Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy". Molecular Vision 12: 1086–92. 2006. PMID 17093393. 
• "Regulation of norrin receptor frizzled-4 by Wnt2 in colon-derived cells". BMC Cell Biology 8: 12. 2007. doi:10.1186/1471-2121-8-12. PMID 17386109. 

External links

• "Frizzled Receptors: FZD₄". IUPHAR Database of Receptors and Ion Channels. International Union of Basic and Clinical Pharmacology. http://www.iuphar-db.org/GPCR/ReceptorDisplayForward?receptorID=3062. ]
• GeneReviews/NCBI/NIH/UW entry on Familial Exudative Vitreoretinopathy, Autosomal Dominant

This article incorporates text from the United States National Library of Medicine, which is in the public domain.