NameFibroblast growth factor receptor 2
Synonyms
  • 2.7.10.1
  • BEK
  • FGFR-2
  • K-sam
  • Keratinocyte growth factor receptor
  • KGFR
  • KSAM
Gene NameFGFR2
OrganismHuman
Amino acid sequence
>lcl|BSEQ0001492|Fibroblast growth factor receptor 2
MVSWGRFICLVVVTMATLSLARPSFSLVEDTTLEPEEPPTKYQISQPEVYVAAPGESLEV
RCLLKDAAVISWTKDGVHLGPNNRTVLIGEYLQIKGATPRDSGLYACTASRTVDSETWYF
MVNVTDAISSGDDEDDTDGAEDFVSENSNNKRAPYWTNTEKMEKRLHAVPAANTVKFRCP
AGGNPMPTMRWLKNGKEFKQEHRIGGYKVRNQHWSLIMESVVPSDKGNYTCVVENEYGSI
NHTYHLDVVERSPHRPILQAGLPANASTVVGGDVEFVCKVYSDAQPHIQWIKHVEKNGSK
YGPDGLPYLKVLKAAGVNTTDKEIEVLYIRNVTFEDAGEYTCLAGNSIGISFHSAWLTVL
PAPGREKEITASPDYLEIAIYCIGVFLIACMVVTVILCRMKNTTKKPDFSSQPAVHKLTK
RIPLRRQVTVSAESSSSMNSNTPLVRITTRLSSTADTPMLAGVSEYELPEDPKWEFPRDK
LTLGKPLGEGCFGQVVMAEAVGIDKDKPKEAVTVAVKMLKDDATEKDLSDLVSEMEMMKM
IGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLRARRPPGMEYSYDINRVPEEQMTF
KDLVSCTYQLARGMEYLASQKCIHRDLAARNVLVTENNVMKIADFGLARDINNIDYYKKT
TNGRLPVKWMAPEALFDRVYTHQSDVWSFGVLMWEIFTLGGSPYPGIPVEELFKLLKEGH
RMDKPANCTNELYMMMRDCWHAVPSQRPTFKQLVEDLDRILTLTTNEEYLDLSQPLEQYS
PSYPDTRSSCSSGDDSVFSPDPMPYEPCLPQYPHINGSVKT
Number of residues821
Molecular Weight92024.29
Theoretical pI5.68
GO Classification
Functions
  • ATP binding
  • fibroblast growth factor-activated receptor activity
  • heparin binding
  • protein homodimerization activity
  • fibroblast growth factor binding
  • protein tyrosine kinase activity
Processes
  • lung-associated mesenchyme development
  • reproductive structure development
  • peptidyl-tyrosine phosphorylation
  • skeletal system morphogenesis
  • endodermal digestive tract morphogenesis
  • positive regulation of cardiac muscle cell proliferation
  • vascular endothelial growth factor receptor signaling pathway
  • mammary gland bud formation
  • squamous basal epithelial stem cell differentiation involved in prostate gland acinus development
  • bone mineralization
  • epidermis morphogenesis
  • positive regulation of cell cycle
  • positive regulation of cell proliferation
  • negative regulation of transcription from RNA polymerase II promoter
  • bone morphogenesis
  • membranous septum morphogenesis
  • synaptic vesicle transport
  • Fc-epsilon receptor signaling pathway
  • organ morphogenesis
  • epithelial cell proliferation involved in salivary gland morphogenesis
  • positive regulation of epithelial cell proliferation involved in lung morphogenesis
  • angiogenesis
  • branch elongation involved in salivary gland morphogenesis
  • mesenchymal cell differentiation
  • ureteric bud development
  • positive regulation of canonical Wnt signaling pathway
  • epithelial to mesenchymal transition
  • positive regulation of mesenchymal cell proliferation
  • axonogenesis
  • branching involved in labyrinthine layer morphogenesis
  • mesenchymal cell differentiation involved in lung development
  • ventricular zone neuroblast division
  • lung development
  • positive regulation of cell division
  • fibroblast growth factor receptor signaling pathway involved in hemopoiesis
  • positive regulation of phospholipase activity
  • small GTPase mediated signal transduction
  • neuromuscular junction development
  • branching involved in prostate gland morphogenesis
  • mesenchymal cell proliferation involved in lung development
  • multicellular organism growth
  • fibroblast growth factor receptor signaling pathway involved in mammary gland specification
  • positive regulation of Wnt signaling pathway
  • cell-cell signaling
  • regulation of multicellular organism growth
  • branching involved in salivary gland morphogenesis
  • mesodermal cell differentiation
  • post-embryonic development
  • positive regulation of MAPK cascade
  • fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow
  • prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis
  • branching morphogenesis of a nerve
  • midbrain development
  • embryonic organ morphogenesis
  • fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development
  • prostate epithelial cord elongation
  • pyramidal neuron development
  • bud elongation involved in lung branching
  • morphogenesis of embryonic epithelium
  • activation of MAPKK activity
  • fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow
  • prostate gland morphogenesis
  • regulation of cell fate commitment
  • in utero embryonic development
  • bone development
  • cell fate commitment
  • negative regulation of epithelial cell proliferation
  • apoptotic process
  • inner ear morphogenesis
  • gland morphogenesis
  • regulation of fibroblast growth factor receptor signaling pathway
  • coronal suture morphogenesis
  • negative regulation of mitotic nuclear division
  • fibroblast growth factor receptor signaling pathway
  • regulation of branching involved in prostate gland morphogenesis
  • hair follicle morphogenesis
  • regulation of morphogenesis of a branching structure
  • positive regulation of epithelial cell proliferation
  • digestive tract development
  • odontogenesis
  • insulin receptor signaling pathway
  • ventricular cardiac muscle tissue morphogenesis
  • lacrimal gland development
  • lateral sprouting from an epithelium
  • regulation of osteoblast differentiation
  • phosphatidylinositol-mediated signaling
  • embryonic cranial skeleton morphogenesis
  • orbitofrontal cortex development
  • MAPK cascade
  • regulation of ERK1 and ERK2 cascade
  • lens fiber cell development
  • regulation of osteoblast proliferation
  • axon guidance
  • positive regulation of ERK1 and ERK2 cascade
  • embryonic digestive tract morphogenesis
  • neurotrophin TRK receptor signaling pathway
  • lung alveolus development
  • limb bud formation
  • regulation of smooth muscle cell differentiation
  • epidermal growth factor receptor signaling pathway
  • positive regulation of smooth muscle cell proliferation
  • embryonic organ development
  • otic vesicle formation
  • positive regulation of transcription from RNA polymerase II promoter
  • organ growth
  • epithelial cell differentiation
  • lung lobe morphogenesis
  • regulation of smoothened signaling pathway
  • innate immune response
  • protein autophosphorylation
  • embryonic pattern specification
  • outflow tract septum morphogenesis
  • Ras protein signal transduction
Components
  • excitatory synapse
  • integral component of plasma membrane
  • extracellular region
  • nucleus
  • plasma membrane
  • cell surface
  • Golgi apparatus
  • cytoplasmic membrane-bounded vesicle
  • intracellular membrane-bounded organelle
  • integral component of membrane
  • cell cortex
  • nucleoplasm
  • cytoplasm
  • membrane
General FunctionProtein tyrosine kinase activity
Specific FunctionTyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation, migration and apoptosis, and in the regulation of embryonic development. Required for normal embryonic patterning, trophoblast function, limb bud development, lung morphogenesis, osteogenesis and skin development. Plays an essential role in the regulation of osteoblast differentiation, proliferation and apoptosis, and is required for normal skeleton development. Promotes cell proliferation in keratinocytes and immature osteoblasts, but promotes apoptosis in differentiated osteoblasts. Phosphorylates PLCG1, FRS2 and PAK4. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. FGFR2 signaling is down-regulated by ubiquitination, internalization and degradation. Mutations that lead to constitutive kinase activation or impair normal FGFR2 maturation, internalization and degradation lead to aberrant signaling. Over-expressed FGFR2 promotes activation of STAT1.
Pfam Domain Function
Transmembrane Regions378-398
GenBank Protein ID31374
UniProtKB IDP21802
UniProtKB Entry NameFGFR2_HUMAN
Cellular LocationCell membrane
Gene sequence
>lcl|BSEQ0010527|Fibroblast growth factor receptor 2 (FGFR2)
ATGGTCAGCTGGGGTCGTTTCATCTGCCTGGTCGTGGTCACCATGGCAACCTTGTCCCTG
GCCCGGCCCTCCTTCAGTTTAGTTGAGGATACCACATTAGAGCCAGAAGAGCCACCAACC
AAATACCAAATCTCTCAACCAGAAGTGTACGTGGCTGCGCCAGGGGAGTCGCTAGAGGTG
CGCTGCCTGTTGAAAGATGCCGCCGTGATCAGTTGGACTAAGGATGGGGTGCACTTGGGG
CCCAACAATAGGACAGTGCTTATTGGGGAGTACTTGCAGATAAAGGGCGCCACGCCTAGA
GACTCCGGCCTCTATGCTTGTACTGCCAGTAGGACTGTAGACAGTGAAACTTGGTACTTC
ATGGTGAATGTCACAGATGCCATCTCATCCGGAGATGATGAGGATGACACCGATGGTGCG
GAAGATTTTGTCAGTGAGAACAGTAACAACAAGAGAGCACCATACTGGACCAACACAGAA
AAGATGGAAAAGCGGCTCCATGCTGTGCCTGCGGCCAACACTGTCAAGTTTCGCTGCCCA
GCCGGGGGGAACCCAATGCCAACCATGCGGTGGCTGAAAAACGGGAAGGAGTTTAAGCAG
GAGCATCGCATTGGAGGCTACAAGGTACGAAACCAGCACTGGAGCCTCATTATGGAAAGT
GTGGTCCCATCTGACAAGGGAAATTATACCTGTGTAGTGGAGAATGAATACGGGTCCATC
AATCACACGTACCACCTGGATGTTGTGGAGCGATCGCCTCACCGGCCCATCCTCCAAGCC
GGACTGCCGGCAAATGCCTCCACAGTGGTCGGAGGAGACGTAGAGTTTGTCTGCAAGGTT
TACAGTGATGCCCAGCCCCACATCCAGTGGATCAAGCACGTGGAAAAGAACGGCAGTAAA
TACGGGCCCGACGGGCTGCCCTACCTCAAGGTTCTCAAGGCCGCCGGTGTTAACACCACG
GACAAAGAGATTGAGGTTCTCTATATTCGGAATGTAACTTTTGAGGACGCTGGGGAATAT
ACGTGCTTGGCGGGTAATTCTATTGGGATATCCTTTCACTCTGCATGGTTGACAGTTCTG
CCAGCGCCTGGAAGAGAAAAGGAGATTACAGCTTCCCCAGACTACCTGGAGATAGCCATT
TACTGCATAGGGGTCTTCTTAATCGCCTGTATGGTGGTAACAGTCATCCTGTGCCGAATG
AAGAACACGACCAAGAAGCCAGACTTCAGCAGCCAGCCGGCTGTGCACAAGCTGACCAAA
CGTATCCCCCTGCGGAGACAGGTAACAGTTTCGGCTGAGTCCAGCTCCTCCATGAACTCC
AACACCCCGCTGGTGAGGATAACAACACGCCTCTCTTCAACGGCAGACACCCCCATGCTG
GCAGGGGTCTCCGAGTATGAACTTCCAGAGGACCCAAAATGGGAGTTTCCAAGAGATAAG
CTGACACTGGGCAAGCCCCTGGGAGAAGGTTGCTTTGGGCAAGTGGTCATGGCGGAAGCA
GTGGGAATTGACAAAGACAAGCCCAAGGAGGCGGTCACCGTGGCCGTGAAGATGTTGAAA
GATGATGCCACAGAGAAAGACCTTTCTGATCTGGTGTCAGAGATGGAGATGATGAAGATG
ATTGGGAAACACAAGAATATCATAAATCTTCTTGGAGCCTGCACACAGGATGGGCCTCTC
TATGTCATAGTTGAGTATGCCTCTAAAGGCAACCTCCGAGAATACCTCCGAGCCCGGAGG
CCACCCGGGATGGAGTACTCCTATGACATTAACCGTGTTCCTGAGGAGCAGATGACCTTC
AAGGACTTGGTGTCATGCACCTACCAGCTGGCCAGAGGCATGGAGTACTTGGCTTCCCAA
AAATGTATTCATCGAGATTTAGCAGCCAGAAATGTTTTGGTAACAGAAAACAATGTGATG
AAAATAGCAGACTTTGGACTCGCCAGAGATATCAACAATATAGACTATTACAAAAAGACC
ACCAATGGGCGGCTTCCAGTCAAGTGGATGGCTCCAGAAGCCCTGTTTGATAGAGTATAC
ACTCATCAGAGTGATGTCTGGTCCTTCGGGGTGTTAATGTGGGAGATCTTCACTTTAGGG
GGCTCGCCCTACCCAGGGATTCCCGTGGAGGAACTTTTTAAGCTGCTGAAGGAAGGACAC
AGAATGGATAAGCCAGCCAACTGCACCAACGAACTGTACATGATGATGAGGGACTGTTGG
CATGCAGTGCCCTCCCAGAGACCAACGTTCAAGCAGTTGGTAGAAGACTTGGATCGAATT
CTCACTCTCACAACCAATGAGGAATACTTGGACCTCAGCCAACCTCTCGAACAGTATTCA
CCTAGTTACCCTGACACAAGAAGTTCTTGTTCTTCAGGAGATGATTCTGTTTTTTCTCCA
GACCCCATGCCTTACGAACCATGCCTTCCTCAGTATCCACACATAAACGGCAGTGTTAAA
ACATGA
GenBank Gene IDX52832
GeneCard IDNot Available
GenAtlas IDFGFR2
HGNC IDHGNC:3689
Chromosome Location10
Locus10q26
References
  1. Dionne CA, Crumley G, Bellot F, Kaplow JM, Searfoss G, Ruta M, Burgess WH, Jaye M, Schlessinger J: Cloning and expression of two distinct high-affinity receptors cross-reacting with acidic and basic fibroblast growth factors. EMBO J. 1990 Sep;9(9):2685-92. 1697263
  2. Houssaint E, Blanquet PR, Champion-Arnaud P, Gesnel MC, Torriglia A, Courtois Y, Breathnach R: Related fibroblast growth factor receptor genes exist in the human genome. Proc Natl Acad Sci U S A. 1990 Oct;87(20):8180-4. 2172978
  3. Seno M, Sasada R, Watanabe T, Ishimaru K, Igarashi K: Two cDNAs encoding novel human FGF receptor. Biochim Biophys Acta. 1991 Jun 13;1089(2):244-6. 1647213
  4. Hattori Y, Odagiri H, Nakatani H, Miyagawa K, Naito K, Sakamoto H, Katoh O, Yoshida T, Sugimura T, Terada M: K-sam, an amplified gene in stomach cancer, is a member of the heparin-binding growth factor receptor genes. Proc Natl Acad Sci U S A. 1990 Aug;87(15):5983-7. 2377625
  5. Katoh M, Hattori Y, Sasaki H, Tanaka M, Sugano K, Yazaki Y, Sugimura T, Terada M: K-sam gene encodes secreted as well as transmembrane receptor tyrosine kinase. Proc Natl Acad Sci U S A. 1992 Apr 1;89(7):2960-4. 1313574
  6. Dell KR, Williams LT: A novel form of fibroblast growth factor receptor 2. Alternative splicing of the third immunoglobulin-like domain confers ligand binding specificity. J Biol Chem. 1992 Oct 15;267(29):21225-9. 1400433
  7. Miki T, Bottaro DP, Fleming TP, Smith CL, Burgess WH, Chan AM, Aaronson SA: Determination of ligand-binding specificity by alternative splicing: two distinct growth factor receptors encoded by a single gene. Proc Natl Acad Sci U S A. 1992 Jan 1;89(1):246-50. 1309608
  8. Wilson SE, Weng J, Chwang EL, Gollahon L, Leitch AM, Shay JW: Hepatocyte growth factor (HGF), keratinocyte growth factor (KGF), and their receptors in human breast cells and tissues: alternative receptors. Cell Mol Biol Res. 1994;40(4):337-50. 7866434
  9. Ueda T, Sasaki H, Kuwahara Y, Nezu M, Shibuya T, Sakamoto H, Ishii H, Yanagihara K, Mafune K, Makuuchi M, Terada M: Deletion of the carboxyl-terminal exons of K-sam/FGFR2 by short homology-mediated recombination, generating preferential expression of specific messenger RNAs. Cancer Res. 1999 Dec 15;59(24):6080-6. 10626794
  10. Ingersoll RG, Paznekas WA, Tran AK, Scott AF, Jiang G, Jabs EW: Fibroblast growth factor receptor 2 (FGFR2): genomic sequence and variations. Cytogenet Cell Genet. 2001;94(3-4):121-6. 11856867
  11. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. 14702039
  12. Deloukas P, Earthrowl ME, Grafham DV, Rubenfield M, French L, Steward CA, Sims SK, Jones MC, Searle S, Scott C, Howe K, Hunt SE, Andrews TD, Gilbert JG, Swarbreck D, Ashurst JL, Taylor A, Battles J, Bird CP, Ainscough R, Almeida JP, Ashwell RI, Ambrose KD, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Bates K, Beasley H, Bray-Allen S, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J, Cahill P, Camire D, Carter NP, Chapman JC, Clark SY, Clarke G, Clee CM, Clegg S, Corby N, Coulson A, Dhami P, Dutta I, Dunn M, Faulkner L, Frankish A, Frankland JA, Garner P, Garnett J, Gribble S, Griffiths C, Grocock R, Gustafson E, Hammond S, Harley JL, Hart E, Heath PD, Ho TP, Hopkins B, Horne J, Howden PJ, Huckle E, Hynds C, Johnson C, Johnson D, Kana A, Kay M, Kimberley AM, Kershaw JK, Kokkinaki M, Laird GK, Lawlor S, Lee HM, Leongamornlert DA, Laird G, Lloyd C, Lloyd DM, Loveland J, Lovell J, McLaren S, McLay KE, McMurray A, Mashreghi-Mohammadi M, Matthews L, Milne S, Nickerson T, Nguyen M, Overton-Larty E, Palmer SA, Pearce AV, Peck AI, Pelan S, Phillimore B, Porter K, Rice CM, Rogosin A, Ross MT, Sarafidou T, Sehra HK, Shownkeen R, Skuce CD, Smith M, Standring L, Sycamore N, Tester J, Thorpe A, Torcasso W, Tracey A, Tromans A, Tsolas J, Wall M, Walsh J, Wang H, Weinstock K, West AP, Willey DL, Whitehead SL, Wilming L, Wray PW, Young L, Chen Y, Lovering RC, Moschonas NK, Siebert R, Fechtel K, Bentley D, Durbin R, Hubbard T, Doucette-Stamm L, Beck S, Smith DR, Rogers J: The DNA sequence and comparative analysis of human chromosome 10. Nature. 2004 May 27;429(6990):375-81. 15164054
  13. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. 15489334
  14. Glaser RL, Jiang W, Boyadjiev SA, Tran AK, Zachary AA, Van Maldergem L, Johnson D, Walsh S, Oldridge M, Wall SA, Wilkie AO, Jabs EW: Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. Am J Hum Genet. 2000 Mar;66(3):768-77. 10712195
  15. Zhang Y, Gorry MC, Post JC, Ehrlich GD: Genomic organization of the human fibroblast growth factor receptor 2 (FGFR2) gene and comparative analysis of the human FGFR gene family. Gene. 1999 Apr 1;230(1):69-79. 10196476
  16. Park WJ, Theda C, Maestri NE, Meyers GA, Fryburg JS, Dufresne C, Cohen MM Jr, Jabs EW: Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. Am J Hum Genet. 1995 Aug;57(2):321-8. 7668257
  17. Wada C, Ishigaki M, Toyo-oka Y, Yamabe H, Ohnuki Y, Takada F, Yamazaki Y, Ohtani H: [Nucleotide sequences at intron 6 and exon 7 junction of fibroblast growth factor receptor 2 and rapid mutational analysis in Apert syndrome]. Rinsho Byori. 1996 May;44(5):435-8. 8676562
  18. Moloney DM, Slaney SF, Oldridge M, Wall SA, Sahlin P, Stenman G, Wilkie AO: Exclusive paternal origin of new mutations in Apert syndrome. Nat Genet. 1996 May;13(1):48-53. 8673103
  19. Gorry MC, Preston RA, White GJ, Zhang Y, Singhal VK, Losken HW, Parker MG, Nwokoro NA, Post JC, Ehrlich GD: Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome. Hum Mol Genet. 1995 Aug;4(8):1387-90. 7581378
  20. Gray TE, Eisenstein M, Yayon A, Givol D: Asparagine-344 is a key residue for ligand binding in keratinocyte growth factor receptor. Biochemistry. 1996 Dec 10;35(49):15640-5. 8961926
  21. Ornitz DM, Xu J, Colvin JS, McEwen DG, MacArthur CA, Coulier F, Gao G, Goldfarb M: Receptor specificity of the fibroblast growth factor family. J Biol Chem. 1996 Jun 21;271(25):15292-7. 8663044
  22. Lu Y, Pan ZZ, Devaux Y, Ray P: p21-activated protein kinase 4 (PAK4) interacts with the keratinocyte growth factor receptor and participates in keratinocyte growth factor-mediated inhibition of oxidant-induced cell death. J Biol Chem. 2003 Mar 21;278(12):10374-80. Epub 2003 Jan 15. 12529371
  23. Kaabeche K, Lemonnier J, Le Mee S, Caverzasio J, Marie PJ: Cbl-mediated degradation of Lyn and Fyn induced by constitutive fibroblast growth factor receptor-2 activation supports osteoblast differentiation. J Biol Chem. 2004 Aug 27;279(35):36259-67. Epub 2004 Jun 9. 15190072
  24. Ceridono M, Belleudi F, Ceccarelli S, Torrisi MR: Tyrosine 769 of the keratinocyte growth factor receptor is required for receptor signaling but not endocytosis. Biochem Biophys Res Commun. 2005 Feb 11;327(2):523-32. 15629145
  25. Zhang X, Ibrahimi OA, Olsen SK, Umemori H, Mohammadi M, Ornitz DM: Receptor specificity of the fibroblast growth factor family. The complete mammalian FGF family. J Biol Chem. 2006 Jun 9;281(23):15694-700. Epub 2006 Apr 4. 16597617
  26. Hatch NE, Hudson M, Seto ML, Cunningham ML, Bothwell M: Intracellular retention, degradation, and signaling of glycosylation-deficient FGFR2 and craniosynostosis syndrome-associated FGFR2C278F. J Biol Chem. 2006 Sep 15;281(37):27292-305. Epub 2006 Jul 14. 16844695
  27. Kurosu H, Choi M, Ogawa Y, Dickson AS, Goetz R, Eliseenkova AV, Mohammadi M, Rosenblatt KP, Kliewer SA, Kuro-o M: Tissue-specific expression of betaKlotho and fibroblast growth factor (FGF) receptor isoforms determines metabolic activity of FGF19 and FGF21. J Biol Chem. 2007 Sep 14;282(37):26687-95. Epub 2007 Jul 10. 17623664
  28. Citores L, Bai L, Sorensen V, Olsnes S: Fibroblast growth factor receptor-induced phosphorylation of STAT1 at the Golgi apparatus without translocation to the nucleus. J Cell Physiol. 2007 Jul;212(1):148-56. 17311277
  29. Dufour C, Guenou H, Kaabeche K, Bouvard D, Sanjay A, Marie PJ: FGFR2-Cbl interaction in lipid rafts triggers attenuation of PI3K/Akt signaling and osteoblast survival. Bone. 2008 Jun;42(6):1032-9. doi: 10.1016/j.bone.2008.02.009. Epub 2008 Feb 29. 18374639
  30. Luo Y, Yang C, Jin C, Xie R, Wang F, McKeehan WL: Novel phosphotyrosine targets of FGFR2IIIb signaling. Cell Signal. 2009 Sep;21(9):1370-8. doi: 10.1016/j.cellsig.2009.04.004. Epub 2009 May 3. 19410646
  31. Cha JY, Maddileti S, Mitin N, Harden TK, Der CJ: Aberrant receptor internalization and enhanced FRS2-dependent signaling contribute to the transforming activity of the fibroblast growth factor receptor 2 IIIb C3 isoform. J Biol Chem. 2009 Mar 6;284(10):6227-40. doi: 10.1074/jbc.M803998200. Epub 2008 Dec 22. 19103595
  32. Oppermann FS, Gnad F, Olsen JV, Hornberger R, Greff Z, Keri G, Mann M, Daub H: Large-scale proteomics analysis of the human kinome. Mol Cell Proteomics. 2009 Jul;8(7):1751-64. doi: 10.1074/mcp.M800588-MCP200. Epub 2009 Apr 15. 19369195
  33. Severe N, Miraoui H, Marie PJ: The Casitas B lineage lymphoma (Cbl) mutant G306E enhances osteogenic differentiation in human mesenchymal stromal cells in part by decreased Cbl-mediated platelet-derived growth factor receptor alpha and fibroblast growth factor receptor 2 ubiquitination. J Biol Chem. 2011 Jul 8;286(27):24443-50. doi: 10.1074/jbc.M110.197525. Epub 2011 May 19. 21596750
  34. Eswarakumar VP, Lax I, Schlessinger J: Cellular signaling by fibroblast growth factor receptors. Cytokine Growth Factor Rev. 2005 Apr;16(2):139-49. Epub 2005 Feb 1. 15863030
  35. Katoh M: FGFR2 abnormalities underlie a spectrum of bone, skin, and cancer pathologies. J Invest Dermatol. 2009 Aug;129(8):1861-7. doi: 10.1038/jid.2009.97. Epub 2009 Apr 23. 19387476
  36. Turner N, Grose R: Fibroblast growth factor signalling: from development to cancer. Nat Rev Cancer. 2010 Feb;10(2):116-29. doi: 10.1038/nrc2780. 20094046
  37. Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. J Proteomics. 2014 Jan 16;96:253-62. doi: 10.1016/j.jprot.2013.11.014. Epub 2013 Nov 22. 24275569
  38. Plotnikov AN, Hubbard SR, Schlessinger J, Mohammadi M: Crystal structures of two FGF-FGFR complexes reveal the determinants of ligand-receptor specificity. Cell. 2000 May 12;101(4):413-24. 10830168
  39. Pellegrini L, Burke DF, von Delft F, Mulloy B, Blundell TL: Crystal structure of fibroblast growth factor receptor ectodomain bound to ligand and heparin. Nature. 2000 Oct 26;407(6807):1029-34. 11069186
  40. Stauber DJ, DiGabriele AD, Hendrickson WA: Structural interactions of fibroblast growth factor receptor with its ligands. Proc Natl Acad Sci U S A. 2000 Jan 4;97(1):49-54. 10618369
  41. Ibrahimi OA, Eliseenkova AV, Plotnikov AN, Yu K, Ornitz DM, Mohammadi M: Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome. Proc Natl Acad Sci U S A. 2001 Jun 19;98(13):7182-7. Epub 2001 Jun 5. 11390973
  42. Yeh BK, Igarashi M, Eliseenkova AV, Plotnikov AN, Sher I, Ron D, Aaronson SA, Mohammadi M: Structural basis by which alternative splicing confers specificity in fibroblast growth factor receptors. Proc Natl Acad Sci U S A. 2003 Mar 4;100(5):2266-71. Epub 2003 Feb 18. 12591959
  43. Olsen SK, Li JY, Bromleigh C, Eliseenkova AV, Ibrahimi OA, Lao Z, Zhang F, Linhardt RJ, Joyner AL, Mohammadi M: Structural basis by which alternative splicing modulates the organizer activity of FGF8 in the brain. Genes Dev. 2006 Jan 15;20(2):185-98. Epub 2005 Dec 29. 16384934
  44. Chen H, Ma J, Li W, Eliseenkova AV, Xu C, Neubert TA, Miller WT, Mohammadi M: A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases. Mol Cell. 2007 Sep 7;27(5):717-30. 17803937
  45. Lew ED, Bae JH, Rohmann E, Wollnik B, Schlessinger J: Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation. Proc Natl Acad Sci U S A. 2007 Dec 11;104(50):19802-7. Epub 2007 Dec 3. 18056630
  46. Chen H, Xu CF, Ma J, Eliseenkova AV, Li W, Pollock PM, Pitteloud N, Miller WT, Neubert TA, Mohammadi M: A crystallographic snapshot of tyrosine trans-phosphorylation in action. Proc Natl Acad Sci U S A. 2008 Dec 16;105(50):19660-5. doi: 10.1073/pnas.0807752105. Epub 2008 Dec 5. 19060208
  47. Eathiraj S, Palma R, Hirschi M, Volckova E, Nakuci E, Castro J, Chen CR, Chan TC, France DS, Ashwell MA: A novel mode of protein kinase inhibition exploiting hydrophobic motifs of autoinhibited kinases: discovery of ATP-independent inhibitors of fibroblast growth factor receptor. J Biol Chem. 2011 Jun 10;286(23):20677-87. doi: 10.1074/jbc.M110.213736. Epub 2011 Mar 24. 21454610
  48. Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S: Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nat Genet. 1994 Sep;8(1):98-103. 7987400
  49. Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, Mao JI, Charnas LR, Jackson CE, Jaye M: Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nat Genet. 1994 Nov;8(3):275-9. 7874170
  50. Oldridge M, Wilkie AO, Slaney SF, Poole MD, Pulleyn LJ, Rutland P, Hockley AD, Wake MJ, Goldin JH, Winter RM, et al.: Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. Hum Mol Genet. 1995 Jun;4(6):1077-82. 7655462
  51. Park WJ, Meyers GA, Li X, Theda C, Day D, Orlow SJ, Jones MC, Jabs EW: Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. Hum Mol Genet. 1995 Jul;4(7):1229-33. 8528214
  52. Lajeunie E, Ma HW, Bonaventure J, Munnich A, Le Merrer M, Renier D: FGFR2 mutations in Pfeiffer syndrome. Nat Genet. 1995 Feb;9(2):108. 7719333
  53. Wilkie AO, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, Hayward RD, David DJ, Pulleyn LJ, Rutland P, et al.: Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet. 1995 Feb;9(2):165-72. 7719344
  54. Rutland P, Pulleyn LJ, Reardon W, Baraitser M, Hayward R, Jones B, Malcolm S, Winter RM, Oldridge M, Slaney SF, et al.: Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nat Genet. 1995 Feb;9(2):173-6. 7719345
  55. Meyers GA, Day D, Goldberg R, Daentl DL, Przylepa KA, Abrams LJ, Graham JM Jr, Feingold M, Moeschler JB, Rawnsley E, Scott AF, Jabs EW: FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. Am J Hum Genet. 1996 Mar;58(3):491-8. 8644708
  56. Pulleyn LJ, Reardon W, Wilkes D, Rutland P, Jones BM, Hayward R, Hall CM, Brueton L, Chun N, Lammer E, Malcolm S, Winter RM: Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus. Eur J Hum Genet. 1996;4(5):283-91. 8946174
  57. Steinberger D, Mulliken JB, Muller U: Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene. Hum Mutat. 1996;8(4):386-90. 8956050
  58. Przylepa KA, Paznekas W, Zhang M, Golabi M, Bias W, Bamshad MJ, Carey JC, Hall BD, Stevenson R, Orlow S, Cohen MM Jr, Jabs EW: Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. Nat Genet. 1996 Aug;13(4):492-4. 8696350
  59. Tartaglia M, Valeri S, Velardi F, Di Rocco C, Battaglia PA: Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome. Hum Genet. 1997 May;99(5):602-6. 9150725
  60. Tartaglia M, Di Rocco C, Lajeunie E, Valeri S, Velardi F, Battaglia PA: Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders. Hum Genet. 1997 Nov;101(1):47-50. 9385368
  61. Oldridge M, Lunt PW, Zackai EH, McDonald-McGinn DM, Muenke M, Moloney DM, Twigg SR, Heath JK, Howard TD, Hoganson G, Gagnon DM, Jabs EW, Wilkie AO: Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. Hum Mol Genet. 1997 Jan;6(1):137-43. 9002682
  62. Steinberger D, Collmann H, Schmalenberger B, Muller U: A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly. J Med Genet. 1997 May;34(5):420-2. 9152842
  63. Passos-Bueno MR, Sertie AL, Richieri-Costa A, Alonso LG, Zatz M, Alonso N, Brunoni D, Ribeiro SF: Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. Am J Med Genet. 1998 Jul 7;78(3):237-41. 9677057
  64. Steinberger D, Vriend G, Mulliken JB, Muller U: The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor. Hum Genet. 1998 Feb;102(2):145-50. 9521581
  65. Tsai FJ, Hwu WL, Lin SP, Chang JG, Wang TR, Tsai CH: Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with Apert syndrome. Hum Mutat. 1998;Suppl 1:S18-9. 9452027
  66. Mathijssen IM, Vaandrager JM, Hoogeboom AJ, Hesseling-Janssen AL, van den Ouweland AM: Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene. J Craniofac Surg. 1998 May;9(3):207-9. 9693549
  67. Passos-Bueno MR, Richieri-Costa A, Sertie AL, Kneppers A: Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly. J Med Genet. 1998 Aug;35(8):677-9. 9719378
  68. Everett ET, Britto DA, Ward RE, Hartsfield JK Jr: A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance. Cleft Palate Craniofac J. 1999 Nov;36(6):533-41. 10574673
  69. Cornejo-Roldan LR, Roessler E, Muenke M: Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. Hum Genet. 1999 May;104(5):425-31. 10394936
  70. Priolo M, Lerone M, Baffico M, Baldi M, Ravazzolo R, Cama A, Capra V, Silengo M: Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene. Clin Genet. 2000 Jul;58(1):81-3. 10945669
  71. Kress W, Collmann H, Busse M, Halliger-Keller B, Mueller CR: Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). Cytogenet Cell Genet. 2000;91(1-4):134-7. 11173845
  72. Johnson D, Wall SA, Mann S, Wilkie AO: A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis? Eur J Hum Genet. 2000 Aug;8(8):571-7. 10951518
  73. Reardon W, Smith A, Honour JW, Hindmarsh P, Das D, Rumsby G, Nelson I, Malcolm S, Ades L, Sillence D, Kumar D, DeLozier-Blanchet C, McKee S, Kelly T, McKeehan WL, Baraitser M, Winter RM: Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? J Med Genet. 2000 Jan;37(1):26-32. 10633130
  74. Tsai FJ, Yang CF, Wu JY, Tsai CH, Lee CC: Mutation analysis of Crouzon syndrome and identification of one novel mutation in Taiwanese patients. Pediatr Int. 2001 Jun;43(3):263-6. 11380921
  75. Kan SH, Elanko N, Johnson D, Cornejo-Roldan L, Cook J, Reich EW, Tomkins S, Verloes A, Twigg SR, Rannan-Eliya S, McDonald-McGinn DM, Zackai EH, Wall SA, Muenke M, Wilkie AO: Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am J Hum Genet. 2002 Feb;70(2):472-86. Epub 2002 Jan 4. 11781872
  76. Wang TJ, Huang CB, Tsai FJ, Wu JY, Lai RB, Hsiao M: Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome. Clin Genet. 2002 Mar;61(3):218-21. 12000365
  77. McGillivray G, Savarirayan R, Cox TC, Stojkoski C, McNeil R, Bankier A, Bateman JF, Roscioli T, Gardner RJ, Lamande SR: Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. J Med Genet. 2005 Aug;42(8):656-62. 16061565
  78. Rohmann E, Brunner HG, Kayserili H, Uyguner O, Nurnberg G, Lew ED, Dobbie A, Eswarakumar VP, Uzumcu A, Ulubil-Emeroglu M, Leroy JG, Li Y, Becker C, Lehnerdt K, Cremers CW, Yuksel-Apak M, Nurnberg P, Kubisch C, Schlessinger J, van Bokhoven H, Wollnik B: Mutations in different components of FGF signaling in LADD syndrome. Nat Genet. 2006 Apr;38(4):414-7. Epub 2006 Feb 26. 16501574
  79. Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE: The consensus coding sequences of human breast and colorectal cancers. Science. 2006 Oct 13;314(5797):268-74. Epub 2006 Sep 7. 16959974
  80. Greenman C, Stephens P, Smith R, Dalgliesh GL, Hunter C, Bignell G, Davies H, Teague J, Butler A, Stevens C, Edkins S, O'Meara S, Vastrik I, Schmidt EE, Avis T, Barthorpe S, Bhamra G, Buck G, Choudhury B, Clements J, Cole J, Dicks E, Forbes S, Gray K, Halliday K, Harrison R, Hills K, Hinton J, Jenkinson A, Jones D, Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R, Small A, Tofts C, Varian J, Webb T, West S, Widaa S, Yates A, Cahill DP, Louis DN, Goldstraw P, Nicholson AG, Brasseur F, Looijenga L, Weber BL, Chiew YE, DeFazio A, Greaves MF, Green AR, Campbell P, Birney E, Easton DF, Chenevix-Trench G, Tan MH, Khoo SK, Teh BT, Yuen ST, Leung SY, Wooster R, Futreal PA, Stratton MR: Patterns of somatic mutation in human cancer genomes. Nature. 2007 Mar 8;446(7132):153-8. 17344846
  81. Merrill AE, Sarukhanov A, Krejci P, Idoni B, Camacho N, Estrada KD, Lyons KM, Deixler H, Robinson H, Chitayat D, Curry CJ, Lachman RS, Wilcox WR, Krakow D: Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. Am J Hum Genet. 2012 Mar 9;90(3):550-7. doi: 10.1016/j.ajhg.2012.02.005. Epub 2012 Mar 1. 22387015