Reactome | Signaling by activated point mutants of FGFR3

Signaling by activated point mutants of FGFR3

Stable Identifier

R-HSA-1839130

Type

Pathway

Species

Homo sapiens

Compartment

plasma membrane, cytosol, extracellular region

ReviewStatus

5/5

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Signaling by activated point mutants of FGFR3

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Activating point mutations in FGFR3 are found in the extracellular ligand-binding domain, the transmembrane region and the tyrosine kinase domain and are believed to result in ligand-independent activation of the receptor (Webster and Donoghue, 1996; Wenbster, 1997). These mutations, although initially characterized in the context of autosomal skeletal disorders, are now being identified in a range of cancers including bladder, cervical, breast, prostate, head and neck, and multiple myeloma (reviewed in Wesche, 2011).

Literature References

PubMed ID	Title	Journal	Year
8754806	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 Donoghue, DJ, d'Avis, PY, Robertson, SC, Webster, MK	Mol Cell Biol	1996
21711248	Fibroblast growth factors and their receptors in cancer Haglund, K, Wesche, J, Haugsten, EM	Biochem J	2011
8599935	Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia Donoghue, DJ, Webster, MK	EMBO J	1996

Participants

Events

Participates

as an event of

FGFR3 mutant receptor activation (Homo sapiens)

Disease

Name	Identifier	Synonyms
cancer	DOID:162	malignant tumor, malignant neoplasm, primary cancer
bone development disease	DOID:0080006

Authored

Rothfels, K (2012-02-10)

Reviewed

Ezzat, S (2012-05-15)

Created

Rothfels, K (2011-10-27)

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