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

GO curators for mouse genes have assigned the following annotations to the gene product of Fgfr3. (This text reflects annotations as of Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

This gene encodes a member of the fibroblast growth factor receptor family. Members of this family are highly conserved proteins that differ from one another in their ligand affinities and tissue distribution. A 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 family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene may be associated with craniosynostosis and multiple types of skeletal dysplasia. A pseudogene of this gene is located on chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2011]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Fgfr3
  • participates in the following biological processes:
    • fibroblast growth factor receptor signaling pathway ^[2]
    • MAPK cascade ^[2]
    • positive regulation of peptidyl-tyrosine phosphorylation ^[2]
    • positive regulation of protein ubiquitination ^[2]
  • performs the following molecular functions:
    • fibroblast growth factor-activated receptor activity ^[2]
  • is located in the following cellular components:
    • internal side of plasma membrane ^[2]
    • lysosome ^[2]
    • perinuclear region of cytoplasm ^[2]
• The gene product of Fgfr3 has been shown to bind to the gene products of Kl. ^[8]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Fgfr3
  • participates in the following biological processes:
    • axonogenesis involved in innervation ^[13]
    • bone maturation ^[15]
    • bone morphogenesis ^[18]
    • cartilage development ^[3]
    • cell differentiation ^[13]
    • central nervous system myelination ^[12]
    • cochlea development ^[13]
    • digestive tract morphogenesis ^[18]
    • epithelial cell fate commitment ^[18]
    • forebrain development ^[6]
    • inner ear development ^[5]
    • inner ear receptor cell differentiation ^[5]
    • lens morphogenesis in camera-type eye ^[4]
    • morphogenesis of an epithelium ^[5]
    • negative regulation of apoptotic process ^[12]
    • negative regulation of astrocyte differentiation ^[12]
    • negative regulation of cell proliferation ^[6]
    • negative regulation of developmental growth ^[15]
    • negative regulation of epithelial cell proliferation ^{[1, 4]}
    • negative regulation of smoothened signaling pathway ^[11]
    • negative regulation of transcription from RNA polymerase II promoter ^[11]
    • oligodendrocyte development ^[12]
    • positive regulation of apoptotic process ^[6]
    • positive regulation of canonical Wnt receptor signaling pathway ^[18]
    • positive regulation of cell differentiation ^{[5, 9]}
    • positive regulation of endothelial cell proliferation ^[14]
    • positive regulation of MAPK cascade ^[4]
    • post-anal tail morphogenesis ^[15]
    • response to axon injury ^[7]
    • somatic stem cell maintenance ^[18]
    • substantia nigra development ^[17]
• Researchers have inferred, based on genetic interactions, that the gene product of Fgfr3
  • participates in the following biological processes:
    • alveolar secondary septum development based on interactions with Fgfr4 ^[19]
    • fibroblast growth factor receptor signaling pathway based on interactions with Fgf18, Fgf21, Klb ^{[3, 16]}
    • inner ear receptor cell differentiation based on interactions with Bmp4 ^[10]
    • lens fiber cell development based on interactions with Fgfr2 ^[20]
    • negative regulation of cell proliferation based on interactions with Fgfr2 ^[20]
    • negative regulation of mitosis based on interactions with Fgfr2 ^[20]
    • positive regulation of cell proliferation based on interactions with Fgf21, Klb ^[16]
    • positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway based on interactions with Fgf21, Klb ^[16]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Fgfr3:
  • participates in the following biological processes:
    • cell-cell signaling
    • fibroblast growth factor receptor signaling pathway
    • negative regulation of epithelial cell proliferation
    • peptidyl-tyrosine phosphorylation
    • positive regulation of cell proliferation
    • positive regulation of ERK1 and ERK2 cascade
    • positive regulation of MAPK cascade
    • positive regulation of phosphatidylinositol 3-kinase activity
    • positive regulation of phospholipase activity
    • positive regulation of tyrosine phosphorylation of Stat1 protein
    • positive regulation of tyrosine phosphorylation of Stat3 protein
    • protein autophosphorylation
    • regulation of apoptotic process
  • performs the following molecular functions:
    • fibroblast growth factor binding
    • fibroblast growth factor-activated receptor activity
    • protein tyrosine kinase activity
  • is located in the following cellular components:
    • cell surface
    • cytoplasm
    • integral to plasma membrane
    • nucleus

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Summary text based on GO annotations supported by structural data

• Fgfr3 encodes a protein or proteins that contain the following InterPro domains: Immunoglobulin I-set, Immunoglobulin subtype 2, Immunoglobulin-like, Immunoglobulin-like fold, Protein kinase, ATP binding site, Protein kinase, catalytic domain, Protein kinase-like domain, Serine-threonine/tyrosine-protein kinase catalytic domain, Tyrosine-protein kinase, active site, Tyrosine-protein kinase, catalytic domain, Tyrosine-protein kinase, fibroblast growth factor receptor, indicating that the gene product:
  • participates in the following biological processes:
    • protein phosphorylation
  • performs the following molecular functions:
    • ATP binding
    • protein kinase activity
    • transferase activity, transferring phosphorus-containing groups
  • is located in the following cellular components:
    • integral to membrane

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Fgfr3 indicates that it:
  • participates in the following biological processes:
    • apoptotic process
    • phosphorylation
  • performs the following molecular functions:
    • ATP binding
    • kinase activity
    • nucleotide binding
    • transferase activity
  • is located in the following cellular components:
    • cytoplasmic vesicle
    • endoplasmic reticulum
    • integral to membrane
    • membrane
    • plasma membrane
• Fgfr3 has been associated with the Enzyme Commission numbers: 2.7.10.1, which implies that the gene product:
  • performs the following molecular functions:
    • transmembrane receptor protein tyrosine kinase activity

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References

1. Arnaud-Dabernat S et al. (2007) FGFR3 is a negative regulator of the expansion of pancreatic epithelial cells. Diabetes, 56:96-106. (PubMed:17192470)
2. Cho JY et al. (2004) Defective lysosomal targeting of activated fibroblast growth factor receptor 3 in achondroplasia. Proc Natl Acad Sci U S A, 101:609-14. (PubMed:14699054)
3. Davidson D et al. (2005) Fibroblast growth factor (FGF) 18 signals through FGF receptor 3 to promote chondrogenesis. J Biol Chem, 280:20509-15. (PubMed:15781473)
4. Govindarajan V et al. (2001) Secreted FGFR3, but not FGFR1, inhibits lens fiber differentiation. Development, 128:1617-27. (PubMed:11290300)
5. Hayashi T et al. (2007) Loss of Fgfr3 leads to excess hair cell development in the mouse organ of Corti. Dev Dyn, 236:525-33. (PubMed:17117437)
6. Inglis-Broadgate SL et al. (2005) FGFR3 regulates brain size by controlling progenitor cell proliferation and apoptosis during embryonic development. Dev Biol, 279:73-85. (PubMed:15708559)
7. Jungnickel J et al. (2005) Regulation of neuronal death and calcitonin gene-related peptide by fibroblast growth factor-2 and FGFR3 after peripheral nerve injury: evidence from mouse mutants. Neuroscience, 134:1343-50. (PubMed:16009496)
8. Kurosu H et al. (2006) Regulation of fibroblast growth factor-23 signaling by klotho. J Biol Chem, 281:6120-3. (PubMed:16436388)
9. Mueller KL et al. (2002) Fibroblast growth factor signaling regulates pillar cell development in the organ of corti. J Neurosci, 22:9368-77. (PubMed:12417662)
10. Murashima-Suginami A et al. (2007) Rudiment incisors survive and erupt as supernumerary teeth as a result of USAG-1 abrogation. Biochem Biophys Res Commun, 359:549-55. (PubMed:17555714)
11. Naski MC et al. (1998) Repression of hedgehog signaling and BMP4 expression in growth plate cartilage by fibroblast growth factor receptor 3. Development, 125:4977-88. (PubMed:9811582)
12. Oh LY et al. (2003) Fibroblast growth factor receptor 3 signaling regulates the onset of oligodendrocyte terminal differentiation. J Neurosci, 23:883-94. (PubMed:12574417)
13. Puligilla C et al. (2007) Disruption of fibroblast growth factor receptor 3 signaling results in defects in cellular differentiation, neuronal patterning, and hearing impairment. Dev Dyn, 236:1905-17. (PubMed:17557302)
14. Shin JW et al. (2006) Prox1 promotes lineage-specific expression of fibroblast growth factor (FGF) receptor-3 in lymphatic endothelium: a role for FGF signaling in lymphangiogenesis. Mol Biol Cell, 17:576-84. (PubMed:16291864)
15. Su N et al. (2010) Generation of Fgfr3 conditional knockout mice. Int J Biol Sci, 6:327-32. (PubMed:20582225)
16. 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)
17. Timmer M et al. (2007) Fibroblast growth factor (FGF)-2 and FGF receptor 3 are required for the development of the substantia nigra, and FGF-2 plays a crucial role for the rescue of dopaminergic neurons after 6-hydroxydopamine lesion. J Neurosci, 27:459-71. (PubMed:17234579)
18. Vidrich A et al. (2009) Fibroblast growth factor receptor-3 regulates Paneth cell lineage allocation and accrual of epithelial stem cells during murine intestinal development. Am J Physiol Gastrointest Liver Physiol, 297:G168-78. (PubMed:19407216)
19. Weinstein M et al. (1998) FGFR-3 and FGFR-4 function cooperatively to direct alveogenesis in the murine lung. Development, 125:3615-23. (PubMed:9716527)
20. Zhao H et al. (2008) Fibroblast growth factor receptor signaling is essential for lens fiber cell differentiation. Dev Biol, 318:276-88. (PubMed:18455718)

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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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