FZD4
From Wikipedia, the free encyclopedia
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Frizzled homolog 4 (Drosophila)
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| Identifiers | ||||||||||||||
| Symbol(s) | FZD4; EVR1; FEVR; FZD4S; Fz-4; FzE4; GPCR; MGC34390 | |||||||||||||
| External IDs | OMIM: 604579 MGI: 108520 HomoloGene: 7325 | |||||||||||||
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| RNA expression pattern | ||||||||||||||
| Orthologs | ||||||||||||||
| Human | Mouse | |||||||||||||
| Entrez | 8322 | 14366 | ||||||||||||
| Ensembl | ENSG00000174804 | ENSMUSG00000049791 | ||||||||||||
| Uniprot | Q9ULV1 | Q3V1B2 | ||||||||||||
| Refseq | NM_012193 (mRNA) NP_036325 (protein) |
NM_008055 (mRNA) NP_032081 (protein) |
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| Location | Chr 11: 86.33 - 86.34 Mb | Chr 7: 89.28 - 89.29 Mb | ||||||||||||
| Pubmed search | [1] | [2] | ||||||||||||
Frizzled homolog 4 (Drosophila), also known as FZD4, is a human gene.[1] 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.[1]
[edit] See also
[edit] References
[edit] 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. PMID 9707618.
- Kirikoshi H, Sagara N, Koike J, et al. (1999). "Molecular cloning and characterization of human Frizzled-4 on chromosome 11q14-q21.". Biochem. Biophys. Res. Commun. 264 (3): 955–61. doi:. PMID 10544037.
- 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:. 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. 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. 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:. 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:. 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:. 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.
- Toomes C, Bottomley HM, Jackson RM, et al. (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:. PMID 15024691.
- 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:. 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. 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:. 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:. 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:. 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:. 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:. PMID 17386109.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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