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Gene Ontology Classifications
Symbol
Name
ID
Fgfr2
fibroblast growth factor receptor 2
MGI:95523

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Fgfr2. (This text reflects annotations as of Thursday, July 24, 2014.)
Summary from NCBI RefSeq


[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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 consists 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. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
References
  1. Arman E et al. (1999) Fgfr2 is required for limb outgrowth and lung-branching morphogenesis. Proc Natl Acad Sci U S A, 96:11895-9. (PubMed:10518547)
  2. Chang DR et al. (2013) Lung epithelial branching program antagonizes alveolar differentiation. Proc Natl Acad Sci U S A, 110:18042-51. (PubMed:24058167)
  3. De Langhe SP et al. (2006) Levels of mesenchymal FGFR2 signaling modulate smooth muscle progenitor cell commitment in the lung. Dev Biol, 299:52-62. (PubMed:16989802)
  4. Fairbanks TJ et al. (2004) A genetic mechanism for cecal atresia: the role of the Fgf10 signaling pathway. J Surg Res, 120:201-9. (PubMed:15234214)
  5. Fox MA et al. (2007) Distinct target-derived signals organize formation, maturation, and maintenance of motor nerve terminals. Cell, 129:179-93. (PubMed:17418794)
  6. Holmes G et al. (2009) Early onset of craniosynostosis in an Apert mouse model reveals critical features of this pathology. Dev Biol, 328:273-84. (PubMed:19389359)
  7. Jaskoll T et al. (2002) Embryonic Submandibular Gland Morphogenesis: Stage-Specific Protein Localization of FGFs, BMPs, Pax6 and Pax9 in Normal Mice and Abnormal SMG Phenotypes in FgfR2-IIIc(+/Delta), BMP7(-/-) and Pax6(-/-) Mice. Cells Tissues Organs, 170:83-98. (PubMed:11731698)
  8. Jaskoll T et al. (2005) FGF10/FGFR2b signaling plays essential roles during in vivo embryonic submandibular salivary gland morphogenesis. BMC Dev Biol, 5:11. (PubMed:15972105)
  9. Kettunen P et al. (2007) Fgfr2b mediated epithelial-mesenchymal interactions coordinate tooth morphogenesis and dental trigeminal axon patterning. Mech Dev, 124:868-83. (PubMed:17951031)
  10. Kurosu H et al. (2006) Regulation of fibroblast growth factor-23 signaling by klotho. J Biol Chem, 281:6120-3. (PubMed:16436388)
  11. Kuslak SL et al. (2007) The mouse seminal vesicle shape mutation is allelic with Fgfr2. Development, 134:557-65. (PubMed:17202188)
  12. Lavine KJ et al. (2005) Endocardial and epicardial derived FGF signals regulate myocardial proliferation and differentiation in vivo. Dev Cell, 8:85-95. (PubMed:15621532)
  13. Lavine KJ et al. (2006) Fibroblast growth factor signals regulate a wave of Hedgehog activation that is essential for coronary vascular development. Genes Dev, 20:1651-66. (PubMed:16778080)
  14. Lin Y et al. (2007) Fibroblast growth factor receptor 2 tyrosine kinase is required for prostatic morphogenesis and the acquisition of strict androgen dependency for adult tissue homeostasis. Development, 134:723-34. (PubMed:17215304)
  15. Madakashira BP et al. (2012) Frs2alpha enhances fibroblast growth factor-mediated survival and differentiation in lens development. Development, 139:4601-12. (PubMed:23136392)
  16. Mailleux AA et al. (2002) Role of FGF10/FGFR2b signaling during mammary gland development in the mouse embryo. Development, 129:53-60. (PubMed:11782400)
  17. Makarenkova HP et al. (2000) FGF10 is an inducer and Pax6 a competence factor for lacrimal gland development. Development, 127:2563-72. (PubMed:10821755)
  18. Marguerie A et al. (2006) Congenital heart defects in Fgfr2-IIIb and Fgf10 mutant mice. Cardiovasc Res, 71:50-60. (PubMed:16687131)
  19. Marker PC et al. (2003) Spontaneous mutation in mice provides new insight into the genetic mechanisms that pattern the seminal vesicles and prostate gland. Dev Dyn, 226:643-53. (PubMed:12666202)
  20. Nichol PF et al. (2011) Pitx2 is a Critical Early Regulatory Gene in Normal Cecal Development. J Surg Res, 170:107-11. (PubMed:21550054)
  21. Orr-Urtreger A et al. (1993) Developmental localization of the splicing alternatives of fibroblast growth factor receptor-2 (FGFR2). Dev Biol, 158:475-86. (PubMed:8393815)
  22. Ottolenghi C et al. (2005) Foxl2 is required for commitment to ovary differentiation. Hum Mol Genet, 14:2053-62. (PubMed:15944199)
  23. Perez-Romero A et al. (2001) GH gene expression in the submaxillary gland in normal and Ames dwarf mice. J Endocrinol, 169:389-96. (PubMed:11312155)
  24. Petiot A et al. (2003) A crucial role for Fgfr2-IIIb signalling in epidermal development and hair follicle patterning. Development, 130:5493-501. (PubMed:14530295)
  25. Petiot A et al. (2005) Development of the mammalian urethra is controlled by Fgfr2-IIIb. Development, 132:2441-50. (PubMed:15843416)
  26. Pirvola U et al. (2000) FGF/FGFR-2(IIIb) signaling is essential for inner ear morphogenesis. J Neurosci, 20:6125-34. (PubMed:10934262)
  27. Poladia DP et al. (2006) Role of fibroblast growth factor receptors 1 and 2 in the metanephric mesenchyme. Dev Biol, 291:325-39. (PubMed:16442091)
  28. Rice R et al. (2004) Disruption of Fgf10/Fgfr2b-coordinated epithelial-mesenchymal interactions causes cleft palate. J Clin Invest, 113:1692-700. (PubMed:15199404)
  29. Saarimaki-Vire J et al. (2007) Fibroblast growth factor receptors cooperate to regulate neural progenitor properties in the developing midbrain and hindbrain. J Neurosci, 27:8581-92. (PubMed:17687036)
  30. Schmahl J et al. (2004) Fgf9 induces proliferation and nuclear localization of FGFR2 in Sertoli precursors during male sex determination. Development, 131:3627-36. (PubMed:15229180)
  31. Shigematsu A et al. (2010) Signaling from fibroblast growth factor receptor 2 in immature hematopoietic cells facilitates donor hematopoiesis after intra-bone marrow-bone marrow transplantation. Stem Cells Dev, 19:1679-86. (PubMed:20345253)
  32. Spencer-Dene B et al. (2006) Stomach development is dependent on fibroblast growth factor 10/fibroblast growth factor receptor 2b-mediated signaling. Gastroenterology, 130:1233-44. (PubMed:16618415)
  33. Stevens HE et al. (2010) Fgfr2 is required for the development of the medial prefrontal cortex and its connections with limbic circuits. J Neurosci, 30:5590-602. (PubMed:20410112)
  34. Suzuki M et al. (2008) betaKlotho is required for fibroblast growth factor (FGF) 21 signaling through FGF receptor (FGFR) 1c and FGFR3c. Mol Endocrinol, 22:1006-14. (PubMed:18187602)
  35. Veltmaat JM et al. (2006) Gli3-mediated somitic Fgf10 expression gradients are required for the induction and patterning of mammary epithelium along the embryonic axes. Development, 133:2325-35. (PubMed:16720875)
  36. Vesterlund L et al. (2011) Co-localization of neural cell adhesion molecule and fibroblast growth factor receptor 2 in early embryo development. Int J Dev Biol, 55:313-9. (PubMed:21710437)
  37. White AC et al. (2006) FGF9 and SHH signaling coordinate lung growth and development through regulation of distinct mesenchymal domains. Development, 133:1507-17. (PubMed:16540513)
  38. Xu X et al. (1998) Fibroblast growth factor receptor 2 (FGFR2)-mediated reciprocal regulation loop between FGF8 and FGF10 is essential for limb induction. Development, 125:753-65. (PubMed:9435295)
  39. Yin Y et al. (2008) An FGF-WNT gene regulatory network controls lung mesenchyme development. Dev Biol, 319:426-36. (PubMed:18533146)
  40. Yoon K et al. (2004) Fibroblast growth factor receptor signaling promotes radial glial identity and interacts with Notch1 signaling in telencephalic progenitors. J Neurosci, 24:9497-506. (PubMed:15509736)
  41. Yu K et al. (2003) Conditional inactivation of FGF receptor 2 reveals an essential role for FGF signaling in the regulation of osteoblast function and bone growth. Development, 130:3063-74. (PubMed:12756187)
  42. Zhang Y et al. (2008) Role of epithelial cell fibroblast growth factor receptor substrate 2{alpha} in prostate development, regeneration and tumorigenesis. Development, 135:775-84. (PubMed:18184727)
  43. Zhao H et al. (2008) Fibroblast growth factor receptor signaling is essential for lens fiber cell differentiation. Dev Biol, 318:276-88. (PubMed:18455718)



Go Annotations in Tabular Form (Text View) (GO Graph)

 
 


Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IMP Inferred from mutant phenotype
  IPI Inferred from physical interaction
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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last database update
12/16/2014
MGI 5.20
The Jackson Laboratory