Receptor 2 fibroblastnog faktora rasta

Receptor 2 fibroblastnog faktora rasta‎
	; PDB prikaz baziran na 11djs.
Dostupne strukture
	1DJS, 1E0O, 1EV2, 1GJO, 1II4, 1IIL, 1NUN, 1OEC, 1WVZ, 2FDB, 2PSQ, 2PVF, 2PVY, 2PWL, 2PY3, 2PZ5, 2PZP, 2PZR, 2Q0B, 3B2T, 3CAF, 3CLY, 3CU1, 3DAR, 3EUU, 3OJ2, 3OJM, 3RI1, 4J23, 4J95, 4J96, 4J97, 4J98, 4J99
Identifikatori
Simboli	FGFR2; BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1; JWS; K-SAM; KGFR; TK14; TK25
Vanjski ID	OMIM: 176943 MGI: 95523 HomoloGene: 22566 GeneCards: FGFR2 Gene
EC broj	2.7.10.1
Ontologija gena
Molekulska funkcija	• aktivnost proteinske tirozinske kinaze; • proteinsko vezivanje; • ATP vezivanje;
Ćelijska komponenta	• ekstracelularni region; • nulleus; • nukleolus;
Biološki proces	• angiogeneza; • in utero embrionsko razviće; • membranska septumna morfogeneza;
Pregled RNK izražavanja
	podaci
Ortolozi

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Receptor 2 fibroblastnog faktora rasta (FGFR2, CD332, klaster diferencijacije 332) protein je koji je kod ljudi kodiran FGFR2 genom lociranom na hromozomu 10.^[1]^[2] FGFR2 is a receptor for fibroblastni faktor rasta.

Protein kodiran ovim genom je član familije receptora fibroblastnih faktora rasta (FGFR) među kojima je aminokiselinska sekvenca visoko konzervirana tokom evolucije.^[3] Članovi FGFR familije se međusobno razlikuju po nihovom afinitetu za ligande i tkivnoj distribuciji. Reprezentativni protein pune dužine se sastoji od ekstracelularnog regiona, sastavljenog od tri imunoglobulinu slična domena, jednog hidrofobnog jednoprolaznog membranskog segmenta i citoplazmatičnog tirozinskog kinaznog domena. Ekstracelularna porcija proteina interaguje sa fibroblastnim faktorima rasta, čime se pokreće signalna kaslada koja utiče na mitogenezu i diferencijaciju. Ovaj član familije se vezuje za kisele, bazne i/ili keratinocitne faktore rasta u zavisnosti od izoforme.

Izoforme

FGFR2 je prirodno javlja u obliku dve izoforme FGFR2IIIb i FGFR2IIIc, formirane splajsovanjem trećeg imunoglobulinu sličnog domena. FGFR2IIIb se predominantno javlja u tkivu izvedenom iz ektoderma i površinskom sloju endotelnih organa, i.e. koža i unutrašnji organi.^[4] FGFR2IIIc se javlja u mesenhimu, što kosti glave i lica i stoga su mutacije ovog gena asocirane sa kraniosinostozom.

Interakcije

Receptor 2 fibroblastnog faktora rasta formira interakcije sa FGF1.^[5]^[6]^[7]

Splajsne izoforme se razlikuju u vezivanju:^[8]

FGFR2IIIb se vezuje za FGF-1, -3, -7, -10, -22
FGFR2IIIc se vezuje za FGF-1, -2, -4, -6, -8, -9, -17 i -18

Povezano

Klaster diferencijacije

Reference

↑ Houssaint E, Blanquet PR, Champion-Arnaud P, Gesnel MC, Torriglia A, Courtois Y, Breathnach R (October 1990). „Related fibroblast growth factor receptor genes exist in the human genome”. Proc. Natl. Acad. Sci. U.S.A. 87 (20): 8180–4. DOI:10.1073/pnas.87.20.8180. PMC 54916. PMID 2172978.
↑ Dionne CA, Crumley G, Bellot F, Kaplow JM, Searfoss G, Ruta M, Burgess WH, Jaye M, Schlessinger J (September 1990). „Cloning and expression of two distinct high-affinity receptors cross-reacting with acidic and basic fibroblast growth factors”. EMBO J. 9 (9): 2685–92. PMC 551973. PMID 1697263.
↑ „Entrez Gene: FGFR2 fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome)”.
↑ Orr-Urtreger A, Bedford MT, Burakova T, Arman E, Zimmer Y, Yayon A, Givol D, Lonai P (August 1993). „Developmental localization of the splicing alternatives of fibroblast growth factor receptor-2 (FGFR2)”. Dev. Biol. 158 (2): 475–86. DOI:10.1006/dbio.1993.1205. PMID 8393815.
↑ Stauber DJ, DiGabriele AD, Hendrickson WA (January 2000). „Structural interactions of fibroblast growth factor receptor with its ligands”. Proc. Natl. Acad. Sci. U.S.A. 97 (1): 49–54. DOI:10.1073/pnas.97.1.49. PMC 26614. PMID 10618369.
↑ Pellegrini L, Burke DF, von Delft F, Mulloy B, Blundell TL (October 2000). „Crystal structure of fibroblast growth factor receptor ectodomain bound to ligand and heparin”. Nature 407 (6807): 1029–34. DOI:10.1038/35039551. PMID 11069186.
↑ Santos-Ocampo S, Colvin JS, Chellaiah A, Ornitz DM (January 1996). „Expression and biological activity of mouse fibroblast growth factor-9”. J. Biol. Chem. 271 (3): 1726–31. DOI:10.1074/jbc.271.3.1726. PMID 8576175.
↑ Ornitz DM, Xu J, Colvin JS, McEwen DG, MacArthur CA, Coulier F, Gao G, Goldfarb M (June 1996). „Receptor specificity of the fibroblast growth factor family”. J. Biol. Chem. 271 (25): 15292–7. DOI:10.1074/jbc.271.25.15292. PMID 8663044.

Literatura

McKeehan WL, Kan M (1995). „Heparan sulfate fibroblast growth factor receptor complex: structure-function relationships”. Mol. Reprod. Dev. 39 (1): 69–81; discusison 81–2. DOI:10.1002/mrd.1080390112. PMID 7999363.
Johnson DE, Williams LT (1993). „Structural and functional diversity in the FGF receptor multigene family”. Adv. Cancer Res.. Advances in Cancer Research 60: 1–41. DOI:10.1016/S0065-230X(08)60821-0. ISBN 978-0-12-006660-5. PMID 8417497.
Park WJ, Meyers GA, Li X, et al. (1996). „Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability”. Hum. Mol. Genet. 4 (7): 1229–33. DOI:10.1093/hmg/4.7.1229. PMID 8528214.
Marie PJ, Debiais F, Haÿ E (2003). „Regulation of human cranial osteoblast phenotype by FGF-2, FGFR-2 and BMP-2 signaling”. Histol. Histopathol. 17 (3): 877–85. PMID 12168799.
Ibrahimi OA, Chiu ES, McCarthy JG, Mohammadi M (2005). „Understanding the molecular basis of Apert syndrome”. Plast. Reconstr. Surg. 115 (1): 264–70. PMID 15622262.

Vanjske veze

GeneReviews/NIH/NCBI/UW entry on FGFR-Related Craniosynostosis Syndromes
MeSH Fibroblast+Growth+Factor+Receptor+2
FGFR2 human gene location in the UCSC Genome Browser.
FGFR2 human gene details in the UCSC Genome Browser.

[pmid2172978-1] Houssaint E, Blanquet PR, Champion-Arnaud P, Gesnel MC, Torriglia A, Courtois Y, Breathnach R (October 1990). „Related fibroblast growth factor receptor genes exist in the human genome”. Proc. Natl. Acad. Sci. U.S.A. 87 (20): 8180–4. DOI:10.1073/pnas.87.20.8180. PMC 54916. PMID 2172978.

[pmid1697263-2] Dionne CA, Crumley G, Bellot F, Kaplow JM, Searfoss G, Ruta M, Burgess WH, Jaye M, Schlessinger J (September 1990). „Cloning and expression of two distinct high-affinity receptors cross-reacting with acidic and basic fibroblast growth factors”. EMBO J. 9 (9): 2685–92. PMC 551973. PMID 1697263.

[3] „Entrez Gene: FGFR2 fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome)”.

[pmid8393815-4] Orr-Urtreger A, Bedford MT, Burakova T, Arman E, Zimmer Y, Yayon A, Givol D, Lonai P (August 1993). „Developmental localization of the splicing alternatives of fibroblast growth factor receptor-2 (FGFR2)”. Dev. Biol. 158 (2): 475–86. DOI:10.1006/dbio.1993.1205. PMID 8393815.

[pmid10618369-5] Stauber DJ, DiGabriele AD, Hendrickson WA (January 2000). „Structural interactions of fibroblast growth factor receptor with its ligands”. Proc. Natl. Acad. Sci. U.S.A. 97 (1): 49–54. DOI:10.1073/pnas.97.1.49. PMC 26614. PMID 10618369.

[pmid11069186-6] Pellegrini L, Burke DF, von Delft F, Mulloy B, Blundell TL (October 2000). „Crystal structure of fibroblast growth factor receptor ectodomain bound to ligand and heparin”. Nature 407 (6807): 1029–34. DOI:10.1038/35039551. PMID 11069186.

[pmid8576175-7] Santos-Ocampo S, Colvin JS, Chellaiah A, Ornitz DM (January 1996). „Expression and biological activity of mouse fibroblast growth factor-9”. J. Biol. Chem. 271 (3): 1726–31. DOI:10.1074/jbc.271.3.1726. PMID 8576175.

[pmid8663044-8] Ornitz DM, Xu J, Colvin JS, McEwen DG, MacArthur CA, Coulier F, Gao G, Goldfarb M (June 1996). „Receptor specificity of the fibroblast growth factor family”. J. Biol. Chem. 271 (25): 15292–7. DOI:10.1074/jbc.271.25.15292. PMID 8663044.

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