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Frizzled homolog 4 (Drosophila)
Identifiers
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
Orthologs
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]

Contents

See also

References

  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)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8322.  

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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