Signaling by FGFR2 IIIa TM

Stable Identifier
R-HSA-8851708
Type
Pathway
Species
Homo sapiens
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A soluble truncated form of FGFR2 is aberrantly expressed in an Apert Syndrome mouse model and inhibits FGFR signaling in vitro and in vivo. This variant, termed FGFR IIIa TM, arises from an misspliced transcript that fuses exon 7 to exon 10 and that escapes nonsense-mediated decay. FGFR2 IIIa TM may inhibit signaling by sequestering FGF ligand and/or by forming nonfunctional heterodimers with full-length receptors at the cell surface (Wheldon et al, 2011).

Literature References
PubMed ID Title Journal Year
21355848 Identification and characterization of an inhibitory fibroblast growth factor receptor 2 (FGFR2) molecule, up-regulated in an Apert Syndrome mouse model

Wheldon, LM, Khodabukus, N, Patey, SJ, Smith, TG, Heath, JK, Hajihosseini, MK

Biochem. J. 2011
Participants
Participant Of
Disease
Name Identifier Synonyms
acrocephalosyndactylia 12960 Apert syndrome
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Created