FZD4: Difference between revisions
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'''Frizzled-4''' is a [[protein]] that in humans is encoded by the ''FZD4'' [[gene]].<ref name="pmid10544037">{{cite journal | vauthors = Kirikoshi H, Sagara N, Koike J, Tanaka K, Sekihara H, Hirai M, Katoh M | title = Molecular cloning and characterization of human Frizzled-4 on chromosome 11q14-q21 | journal = Biochemical and Biophysical Research Communications | volume = 264 | issue = 3 | pages = 955–61 | date = Nov 1999 | pmid = 10544037 | pmc = | doi = 10.1006/bbrc.1999.1612 }}</ref><ref name="pmid15024691">{{cite journal | vauthors = 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 | title = Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q | journal = American Journal of Human Genetics | volume = 74 | issue = 4 | pages = 721–30 | date = Apr 2004 | pmid = 15024691 | pmc = 1181948 | doi = 10.1086/383202 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: FZD4 frizzled homolog 4 (Drosophila)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8322| accessdate = }}</ref> 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.<ref name="pmid15035989">{{cite journal | vauthors = Xu Q, Wang Y, Dabdoub A, Smallwood PM, Williams J, Woods C, Kelley MW, Jiang L, Tasman W, Zhang K, Nathans J | title = Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair | journal = Cell | volume = 116 | issue = 6 | pages = 883–895 | date = March 2004 | pmid = 15035989 | pmc = | doi = 10.1016/S0092-8674(04)00216-8 }}</ref> 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.<ref name="entrez" /> | |||
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== See also == | |||
* [[Frizzled]] | |||
== References == | |||
{{reflist}} | |||
}} | |||
==Further reading== | == Further reading == | ||
{{refbegin | 2}} | {{refbegin | 2}} | ||
* {{cite journal | vauthors = Li Y, Fuhrmann C, Schwinger E, Gal A, Laqua H | title = The gene for autosomal dominant familial exudative vitreoretinopathy (Criswick-Schepens) on the long arm of chromosome 11 | journal = American Journal of Ophthalmology | volume = 113 | issue = 6 | pages = 712–3 | date = Jun 1992 | pmid = 1598965 | doi = 10.1016/s0002-9394(14)74800-7}} | |||
* {{cite journal | vauthors = Tanaka S, Akiyoshi T, Mori M, Wands JR, Sugimachi K | title = A novel frizzled gene identified in human esophageal carcinoma mediates APC/beta-catenin signals | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 95 | issue = 17 | pages = 10164–9 | date = Aug 1998 | pmid = 9707618 | pmc = 21479 | doi = 10.1073/pnas.95.17.10164 }} | |||
*{{cite journal | * {{cite journal | vauthors = Sagara N, Kirikoshi H, Terasaki H, Yasuhiko Y, Toda G, Shiokawa K, Katoh M | title = FZD4S, a splicing variant of frizzled-4, encodes a soluble-type positive regulator of the WNT signaling pathway | journal = Biochemical and Biophysical Research Communications | volume = 282 | issue = 3 | pages = 750–6 | date = Apr 2001 | pmid = 11401527 | doi = 10.1006/bbrc.2001.4634 }} | ||
*{{cite journal | * {{cite journal | vauthors = Takeda S, Kadowaki S, Haga T, Takaesu H, Mitaku S | title = Identification of G protein-coupled receptor genes from the human genome sequence | journal = FEBS Letters | volume = 520 | issue = 1-3 | pages = 97–101 | date = Jun 2002 | pmid = 12044878 | doi = 10.1016/S0014-5793(02)02775-8 }} | ||
* {{cite journal | vauthors = Hering H, Sheng M | title = Direct interaction of Frizzled-1, -2, -4, and -7 with PDZ domains of PSD-95 | journal = FEBS Letters | volume = 521 | issue = 1-3 | pages = 185–9 | date = Jun 2002 | pmid = 12067714 | doi = 10.1016/S0014-5793(02)02831-4 }} | |||
*{{cite journal | * {{cite journal | vauthors = Robitaille J, MacDonald ML, Kaykas A, Sheldahl LC, Zeisler J, Dubé MP, Zhang LH, Singaraja RR, Guernsey DL, Zheng B, Siebert LF, Hoskin-Mott A, Trese MT, Pimstone SN, Shastry BS, Moon RT, Hayden MR, Goldberg YP, Samuels ME | title = Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy | journal = Nature Genetics | volume = 32 | issue = 2 | pages = 326–30 | date = Oct 2002 | pmid = 12172548 | doi = 10.1038/ng957 }} | ||
*{{cite journal | * {{cite journal | vauthors = Chen W, ten Berge D, Brown J, Ahn S, Hu LA, Miller WE, Caron MG, Barak LS, Nusse R, Lefkowitz RJ | title = Dishevelled 2 recruits beta-arrestin 2 to mediate Wnt5A-stimulated endocytosis of Frizzled 4 | journal = Science | volume = 301 | issue = 5638 | pages = 1391–4 | date = Sep 2003 | pmid = 12958364 | doi = 10.1126/science.1082808 }} | ||
*{{cite journal | * {{cite journal | vauthors = Toomes C, Downey LM, Bottomley HM, Scott S, Woodruff G, Trembath RC, Inglehearn CF | title = Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR) | journal = Molecular Vision | volume = 10 | issue = | pages = 37–42 | date = Jan 2004 | pmid = 14737064 | doi = }} | ||
*{{cite journal | * {{cite journal | vauthors = Yao R, Natsume Y, Noda T | title = MAGI-3 is involved in the regulation of the JNK signaling pathway as a scaffold protein for frizzled and Ltap | journal = Oncogene | volume = 23 | issue = 36 | pages = 6023–30 | date = Aug 2004 | pmid = 15195140 | doi = 10.1038/sj.onc.1207817 }} | ||
*{{cite journal | * {{cite journal | vauthors = Toomes C, Bottomley HM, Scott S, Mackey DA, Craig JE, Appukuttan B, Stout JT, Flaxel CJ, Zhang K, Black GC, Fryer A, Downey LM, Inglehearn CF | title = Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy | journal = Investigative Ophthalmology & Visual Science | volume = 45 | issue = 7 | pages = 2083–90 | date = Jul 2004 | pmid = 15223780 | doi = 10.1167/iovs.03-1044 }} | ||
* {{cite journal | vauthors = Omoto S, Hayashi T, Kitahara K, Takeuchi T, Ueoka Y | title = Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R) | journal = Ophthalmic Genetics | volume = 25 | issue = 2 | pages = 81–90 | date = Jun 2004 | pmid = 15370539 | doi = 10.1080/13816810490514270 }} | |||
*{{cite journal | * {{cite journal | vauthors = Yoshida S, Arita R, Yoshida A, Tada H, Emori A, Noda Y, Nakao S, Fujisawa K, Ishibashi T | title = Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy | journal = American Journal of Ophthalmology | volume = 138 | issue = 4 | pages = 670–1 | date = Oct 2004 | pmid = 15488808 | doi = 10.1016/j.ajo.2004.05.001 }} | ||
*{{cite journal | * {{cite journal | vauthors = Qin M, Hayashi H, Oshima K, Tahira T, Hayashi K, Kondo H | title = Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes | journal = Human Mutation | volume = 26 | issue = 2 | pages = 104–12 | date = Aug 2005 | pmid = 15981244 | doi = 10.1002/humu.20191 }} | ||
* {{cite journal | vauthors = Nallathambi J, Shukla D, Rajendran A, Namperumalsamy P, Muthulakshmi R, Sundaresan P | title = Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy | journal = Molecular Vision | volume = 12 | issue = | pages = 1086–92 | year = 2006 | pmid = 17093393 | doi = }} | |||
*{{cite journal | * {{cite journal | vauthors = Planutis K, Planutiene M, Moyer MP, Nguyen AV, Pérez CA, Holcombe RF | title = Regulation of norrin receptor frizzled-4 by Wnt2 in colon-derived cells | journal = BMC Cell Biology | volume = 8 | pages = 12 | year = 2007 | pmid = 17386109 | pmc = 1847812 | doi = 10.1186/1471-2121-8-12 }} | ||
*{{cite journal | |||
*{{cite journal | |||
*{{cite journal | |||
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}} | |||
{{refend}} | {{refend}} | ||
== External links == | |||
* {{cite web | url = http://www.iuphar-db.org/GPCR/ReceptorDisplayForward?receptorID=3062 | title = Frizzled Receptors: FZD<sub>4</sub> | accessdate = | author = | authorlink = | format = | work = IUPHAR Database of Receptors and Ion Channels | publisher = International Union of Basic and Clinical Pharmacology | pages = | archiveurl = | archivedate = | quote = }}] | |||
*[https://www.ncbi.nlm.nih.gov/books/NBK1147/ GeneReviews/NCBI/NIH/UW entry on Familial Exudative Vitreoretinopathy, Autosomal Dominant] | |||
{{transmembranereceptor-stub}} | |||
{{NLM content}} | {{NLM content}} | ||
{{Clusters of differentiation}} | {{Clusters of differentiation}} | ||
{{G protein-coupled receptors}} | {{G protein-coupled receptors|g4}} | ||
[[Category:Clusters of differentiation]] | [[Category:Clusters of differentiation]] | ||
[[Category:G protein coupled receptors]] | [[Category:G protein-coupled receptors]] | ||
Latest revision as of 18:00, 24 September 2018
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External IDs | GeneCards: [1] | ||||||
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Species | Human | Mouse | |||||
Entrez |
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Ensembl |
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UniProt |
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RefSeq (mRNA) |
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Location (UCSC) | n/a | n/a | |||||
PubMed search | n/a | n/a | |||||
Wikidata | |||||||
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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).
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.[4] 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.[3]
See also
References
- ↑ Kirikoshi H, Sagara N, Koike J, Tanaka K, Sekihara H, Hirai M, Katoh M (Nov 1999). "Molecular cloning and characterization of human Frizzled-4 on chromosome 11q14-q21". Biochemical and Biophysical Research Communications. 264 (3): 955–61. doi:10.1006/bbrc.1999.1612. PMID 10544037.
- ↑ 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 (Apr 2004). "Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q". American Journal of Human Genetics. 74 (4): 721–30. doi:10.1086/383202. PMC 1181948. PMID 15024691.
- ↑ 3.0 3.1 "Entrez Gene: FZD4 frizzled homolog 4 (Drosophila)".
- ↑ Xu Q, Wang Y, Dabdoub A, Smallwood PM, Williams J, Woods C, Kelley MW, Jiang L, Tasman W, Zhang K, Nathans J (March 2004). "Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair". Cell. 116 (6): 883–895. doi:10.1016/S0092-8674(04)00216-8. PMID 15035989.
Further reading
- Li Y, Fuhrmann C, Schwinger E, Gal A, Laqua H (Jun 1992). "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. doi:10.1016/s0002-9394(14)74800-7. PMID 1598965.
- Tanaka S, Akiyoshi T, Mori M, Wands JR, Sugimachi K (Aug 1998). "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. doi:10.1073/pnas.95.17.10164. PMC 21479. PMID 9707618.
- Sagara N, Kirikoshi H, Terasaki H, Yasuhiko Y, Toda G, Shiokawa K, Katoh M (Apr 2001). "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. doi:10.1006/bbrc.2001.4634. PMID 11401527.
- Takeda S, Kadowaki S, Haga T, Takaesu H, Mitaku S (Jun 2002). "Identification of G protein-coupled receptor genes from the human genome sequence". FEBS Letters. 520 (1–3): 97–101. doi:10.1016/S0014-5793(02)02775-8. PMID 12044878.
- Hering H, Sheng M (Jun 2002). "Direct interaction of Frizzled-1, -2, -4, and -7 with PDZ domains of PSD-95". FEBS Letters. 521 (1–3): 185–9. doi:10.1016/S0014-5793(02)02831-4. PMID 12067714.
- Robitaille J, MacDonald ML, Kaykas A, Sheldahl LC, Zeisler J, Dubé MP, Zhang LH, Singaraja RR, Guernsey DL, Zheng B, Siebert LF, Hoskin-Mott A, Trese MT, Pimstone SN, Shastry BS, Moon RT, Hayden MR, Goldberg YP, Samuels ME (Oct 2002). "Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy". Nature Genetics. 32 (2): 326–30. doi:10.1038/ng957. PMID 12172548.
- Chen W, ten Berge D, Brown J, Ahn S, Hu LA, Miller WE, Caron MG, Barak LS, Nusse R, Lefkowitz RJ (Sep 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, Scott S, Woodruff G, Trembath RC, Inglehearn CF (Jan 2004). "Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR)". Molecular Vision. 10: 37–42. PMID 14737064.
- Yao R, Natsume Y, Noda T (Aug 2004). "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, Mackey DA, Craig JE, Appukuttan B, Stout JT, Flaxel CJ, Zhang K, Black GC, Fryer A, Downey LM, Inglehearn CF (Jul 2004). "Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy". Investigative Ophthalmology & Visual Science. 45 (7): 2083–90. doi:10.1167/iovs.03-1044. PMID 15223780.
- Omoto S, Hayashi T, Kitahara K, Takeuchi T, Ueoka Y (Jun 2004). "Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R)". Ophthalmic Genetics. 25 (2): 81–90. doi:10.1080/13816810490514270. PMID 15370539.
- Yoshida S, Arita R, Yoshida A, Tada H, Emori A, Noda Y, Nakao S, Fujisawa K, Ishibashi T (Oct 2004). "Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy". American Journal of Ophthalmology. 138 (4): 670–1. doi:10.1016/j.ajo.2004.05.001. PMID 15488808.
- Qin M, Hayashi H, Oshima K, Tahira T, Hayashi K, Kondo H (Aug 2005). "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. doi:10.1002/humu.20191. PMID 15981244.
- Nallathambi J, Shukla D, Rajendran A, Namperumalsamy P, Muthulakshmi R, Sundaresan P (2006). "Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy". Molecular Vision. 12: 1086–92. PMID 17093393.
- Planutis K, Planutiene M, Moyer MP, Nguyen AV, Pérez CA, Holcombe RF (2007). "Regulation of norrin receptor frizzled-4 by Wnt2 in colon-derived cells". BMC Cell Biology. 8: 12. doi:10.1186/1471-2121-8-12. PMC 1847812. PMID 17386109.
External links
- "Frizzled Receptors: FZD4". 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
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