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Frizzled homolog 4 (Drosophila)
Symbols FZD4; EVR1; FEVR; FZD4S; Fz-4; FzE4; GPCR; MGC34390
External IDs OMIM604579 MGI108520 HomoloGene7325 IUPHAR: FZD4 GeneCards: FZD4 Gene
RNA expression pattern
PBB GE FZD4 218665 at tn.png
More reference expression data
Species Human Mouse
Entrez 8322 14366
Ensembl ENSG00000174804 ENSMUSG00000049791
UniProt Q9ULV1 Q3V1B2
RefSeq (mRNA) NM_012193 NM_008055
RefSeq (protein) NP_036325 NP_032081
Location (UCSC) Chr 11:
86.33 - 86.34 Mb
Chr 7:
89.28 - 89.29 Mb
PubMed search [1] [2]

Frizzled-4 is a protein that in humans is encoded by the FZD4 gene.[1][2][3] 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. 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.[3]


See also


  1. ^ 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. doi:10.1006/bbrc.1999.1612. PMID 10544037.  
  2. ^ 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. doi:10.1086/383202. PMID 15024691.  
  3. ^ a b "Entrez Gene: FZD4 frizzled homolog 4 (Drosophila)".  

External links

Further reading

  • 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. PMID 1598965.  
  • Tanaka S, Akiyoshi T, Mori M, et al. (1998). "A novel frizzled gene identified in human esophageal carcinoma mediates APC/beta-catenin signals.". Proc. Natl. Acad. Sci. U.S.A. 95 (17): 10164–9. doi:10.1073/pnas.95.17.10164. PMID 9707618.  
  • 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. doi:10.1006/bbrc.2001.4634. PMID 11401527.  
  • 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. doi:10.1016/S0014-5793(02)02775-8. PMID 12044878.  
  • 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. doi:10.1016/S0014-5793(02)02831-4. PMID 12067714.  
  • 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. doi:10.1038/ng957. PMID 12172548.  
  • 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. doi:10.1073/pnas.242603899. PMID 12477932.  
  • 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. doi:10.1126/science.1082808. PMID 12958364.  
  • 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. PMID 14737064.  
  • 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. doi:10.1038/sj.onc.1207817. PMID 15195140.  
  • 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. doi:10.1167/iovs.03-1044. PMID 15223780.  
  • 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. doi:10.1080/13816810490514270. PMID 15370539.  
  • 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. doi:10.1016/j.ajo.2004.05.001. PMID 15488808.  
  • 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. doi:10.1101/gr.2596504. PMID 15489334.  
  • 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. doi:10.1002/humu.20191. PMID 15981244.  
  • 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. PMID 17093393.  
  • 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. doi:10.1186/1471-2121-8-12. PMID 17386109.  

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



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