Fibroblast Growth Factor Receptor 3 (FGFR3)

CD333; ACH; CEK2; JTK4; Achondroplasia; Thanatophoric Dwarfism

SPN	V043
HGNC	3690
MGI	95524
PubMed	23175443
RGD	620714
UniProt	P22607
Wiki	FGFR3

Fibroblast growth factor receptor 3 is a human gene. FGFR3 has also been designated as CD333 The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation.

Reference

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"Fibroblast growth factor receptor 3 lacking the Ig IIIb and transmembrane domains secreted from human squamous cell carcinoma DJM-1 binds to FGFs."
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"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]

"A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4."
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"Putative tyrosine kinases expressed in K-562 human leukemia cells."
Proc. Natl. Acad. Sci. U.S.A. 87:8913-8917(1990) [PubMed] [Europe PMC] [Abstract]

"Identification of a novel variant form of fibroblast growth factor receptor 3 (FGFR3 IIIb) in human colonic epithelium."
Cancer Res. 54:5206-5211(1994) [PubMed] [Europe PMC] [Abstract]

"The choice between alternative IIIb and IIIc exons of the FGFR-3 gene is not strictly tissue-specific."
Biochim. Biophys. Acta 1264:238-242(1995) [PubMed] [Europe PMC] [Abstract]

"Receptor specificity of the fibroblast growth factor family."
J. Biol. Chem. 271:15292-15297(1996) [PubMed] [Europe PMC] [Abstract]

"The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated receptor activation from down-regulation."
Mol. Cell. Biol. 20:516-522(2000) [PubMed] [Europe PMC] [Abstract]

"Identification of tyrosine residues in constitutively activated fibroblast growth factor receptor 3 involved in mitogenesis, Stat activation, and phosphatidylinositol 3-kinase activation."
Mol. Biol. Cell 12:931-942(2001) [PubMed] [Europe PMC] [Abstract]

"FGF receptors ubiquitylation: dependence on tyrosine kinase activity and role in downregulation."
FEBS Lett. 528:83-89(2002) [PubMed] [Europe PMC] [Abstract]

"The phosphotyrosine phosphatase SHP2 is a critical mediator of transformation induced by the oncogenic fibroblast growth factor receptor 3."
Oncogene 22:6909-6918(2003) [PubMed] [Europe PMC] [Abstract]

"Receptor specificity of the fibroblast growth factor family. The complete mammalian FGF family."
J. Biol. Chem. 281:15694-15700(2006) [PubMed] [Europe PMC] [Abstract]

"Suppressors of cytokine signaling (SOCS) 1 and SOCS3 interact with and modulate fibroblast growth factor receptor signaling."
J. Cell Sci. 119:380-387(2006) [PubMed] [Europe PMC] [Abstract]

"Sustained phosphorylation of mutated FGFR3 is a crucial feature of genetic dwarfism and induces apoptosis in the ATDC5 chondrogenic cell line via PLCgamma-activated STAT1."
Bone 41:273-281(2007) [PubMed] [Europe PMC] [Abstract]

"The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor."
FEBS J. 274:3078-3093(2007) [PubMed] [Europe PMC] [Abstract]

"Bisindolylmaleimide I suppresses fibroblast growth factor-mediated activation of Erk MAP kinase in chondrocytes by preventing Shp2 association with the Frs2 and Gab1 adaptor proteins."
J. Biol. Chem. 282:2929-2936(2007) [PubMed] [Europe PMC] [Abstract]

"Tissue-specific expression of betaKlotho and fibroblast growth factor (FGF) receptor isoforms determines metabolic activity of FGF19 and FGF21."
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"Fibroblast growth factor receptor-induced phosphorylation of STAT1 at the Golgi apparatus without translocation to the nucleus."
J. Cell. Physiol. 212:148-156(2007) [PubMed] [Europe PMC] [Abstract]

"Analysis of STAT1 activation by six FGFR3 mutants associated with skeletal dysplasia undermines dominant role of STAT1 in FGFR3 signaling in cartilage."
PLoS ONE 3:E3961-E3961(2008) [PubMed] [Europe PMC] [Abstract]

"A quantitative atlas of mitotic phosphorylation."
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]

"A novel interaction between fibroblast growth factor receptor 3 and the p85 subunit of phosphoinositide 3-kinase: activation-dependent regulation of ERK by p85 in multiple myeloma cells."
Hum. Mol. Genet. 18:1951-1961(2009) [PubMed] [Europe PMC] [Abstract]

"Cellular signaling by fibroblast growth factor receptors."
Cytokine Growth Factor Rev. 16:139-149(2005) [PubMed] [Europe PMC] [Abstract]

"Cell responses to FGFR3 signalling: growth, differentiation and apoptosis."
Exp. Cell Res. 304:417-431(2005) [PubMed] [Europe PMC] [Abstract]

"FGFR3-related dwarfism and cell signaling."
J. Bone Miner. Metab. 27:9-15(2009) [PubMed] [Europe PMC] [Abstract]

"Fibroblast growth factor signalling: from development to cancer."
Nat. Rev. Cancer 10:116-129(2010) [PubMed] [Europe PMC] [Abstract]

"Insights into the molecular basis for fibroblast growth factor receptor autoinhibition and ligand-binding promiscuity."
Proc. Natl. Acad. Sci. U.S.A. 101:935-940(2004) [PubMed] [Europe PMC] [Abstract]

"Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia."
Nature 371:252-254(1994) [PubMed] [Europe PMC] [Abstract]

"Achondroplasia is defined by recurrent G380R mutations of FGFR3."
Am. J. Hum. Genet. 56:368-373(1995) [PubMed] [Europe PMC] [Abstract]

"A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia."
Eur. J. Pediatr. 154:215-219(1995) [PubMed] [Europe PMC] [Abstract]

"Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I."
Hum. Mol. Genet. 4:2175-2177(1995) [PubMed] [Europe PMC] [Abstract]

"Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3."
Nat. Genet. 9:321-328(1995) [PubMed] [Europe PMC] [Abstract]

"A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia."
Nat. Genet. 10:357-359(1995) [PubMed] [Europe PMC] [Abstract]

"Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans."
Nat. Genet. 11:462-464(1995) [PubMed] [Europe PMC] [Abstract]

"Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia."
EMBO J. 15:520-527(1996) [PubMed] [Europe PMC] [Abstract]

"Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)."
Hum. Mol. Genet. 5:509-512(1996) [PubMed] [Europe PMC] [Abstract]

"Profound ligand-independent kinase activation of fibroblast growth factor receptor 3 by the activation loop mutation responsible for a lethal skeletal dysplasia, thanatophoric dysplasia type II."
Mol. Cell. Biol. 16:4081-4087(1996) [PubMed] [Europe PMC] [Abstract]

"A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome."
Am. J. Hum. Genet. 60:555-564(1997) [PubMed] [Europe PMC] [Abstract]

"Frequent translocation t(4;14)(p16.3;q32.3) in multiple myeloma is associated with increased expression and activating mutations of fibroblast growth factor receptor 3."
Nat. Genet. 16:260-264(1997) [PubMed] [Europe PMC] [Abstract]

"G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia."
Endocr. J. 45:S171-S174(1998) [PubMed] [Europe PMC] [Abstract]

"A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia."
Hum. Mutat. 11:333-333(1998) [PubMed] [Europe PMC] [Abstract]

"Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia."
Hum. Mutat. Suppl. 1:S62-S65(1998) [PubMed] [Europe PMC] [Abstract]

"Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia type I."
Hum. Mutat. 12:362-363(1998) [PubMed] [Europe PMC] [Abstract]

"Deafness due to Pro250Arg mutation of FGFR3."
Lancet 351:877-878(1998) [PubMed] [Europe PMC] [Abstract]

"Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations."
Am. J. Med. Genet. 84:476-480(1999) [PubMed] [Europe PMC] [Abstract]

"Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation."
J. Med. Genet. 36:9-13(1999) [PubMed] [Europe PMC] [Abstract]

"Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas."
Nat. Genet. 23:18-20(1999) [PubMed] [Europe PMC] [Abstract]

"Distinct missense mutations of the FGFR3 Lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype."
Am. J. Hum. Genet. 67:1411-1421(2000) [PubMed] [Europe PMC] [Abstract]

"Clinical and radiographic features of a family with hypochondroplasia owing to a novel asn540ser mutation in the fibroblast growth factor receptor 3 gene."
J. Med. Genet. 37:220-224(2000) [PubMed] [Europe PMC] [Abstract]

"Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene."
Am. J. Med. Genet. 104:112-119(2001) [PubMed] [Europe PMC] [Abstract]

"Analysis of FGFR3 gene mutations in multiple myeloma patients with t(4;14)."
Br. J. Haematol. 114:362-364(2001) [PubMed] [Europe PMC] [Abstract]

"Mutations in fibroblast growth factor receptor 2 and fibroblast growth factor receptor 3 genes associated with human gastric and colorectal cancers."
Cancer Res. 61:3541-3543(2001) [PubMed] [Europe PMC] [Abstract]

"Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma."
Oncogene 20:686-691(2001) [PubMed] [Europe PMC] [Abstract]

"Hypochondroplasia and stature within normal limits: another family with an Asn540-to-Ser mutation in the fibroblast growth factor receptor 3 gene."
Am. J. Med. Genet. A 119:81-84(2003) [PubMed] [Europe PMC] [Abstract]

"Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans."
Hum. Mol. Genet. 14:1153-1160(2005) [PubMed] [Europe PMC] [Abstract]

"A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome."
Am. J. Hum. Genet. 79:935-941(2006) [PubMed] [Europe PMC] [Abstract]

"Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi."
J. Clin. Invest. 116:2201-2207(2006) [PubMed] [Europe PMC] [Abstract]

"Mutations in different components of FGF signaling in LADD syndrome."
Nat. Genet. 38:414-417(2006) [PubMed] [Europe PMC] [Abstract]

"Crouzon with acanthosis nigricans. Further delineation of the syndrome."
Clin. Genet. 72:405-410(2007) [PubMed] [Europe PMC] [Abstract]

"Patterns of somatic mutation in human cancer genomes."
Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]

"Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors."
Nat. Genet. 41:1247-1252(2009) [PubMed] [Europe PMC] [Abstract]