Aberrant alternative splicing yields a secreted FGFR2 IIIa TM disease variant

Stable Identifier
R-HSA-8851710
Type
Reaction [omitted]
Species
Homo sapiens
Compartment
extracellular region
ReviewStatus
5/5
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Aberrant alternative splicing yields a secreted FGFR2 IIIa TM disease variant
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A secreted truncated form of FGFR2 known as IIIa TM is produced and stable in a mouse model of Apert Syndrome. FGFR2 IIIa TM is formed from aberrant splicing of FGFR2 exon 7 (IIIa) into exon 10 (containing the transmembrane domain). In WT cells, this transcript is degraded by nonsense-mediated decay, but persists in the disease model by an unknown mechanism. FGFR IIIa TM modulates the binding of FGF1 to FGFR2 in vitro and negatively regulates FGFR2 signaling in vitro and in vivo (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
Input
Output
Participates
as an event of
Functional status

Gain of function of capped, methylated pre-FGFR2 mRNA:CBC complex [nucleoplasm]

Disease Entity
Status
Inferred From
Aberrant alternative splicing generates a soluble disease variant FGFR2 IIIa TM (Mus musculus)
Disease
Name Identifier Synonyms
acrocephalosyndactylia DOID:12960 Apert syndrome
Cross References
Mondo
Authored
Rothfels, K  (2016-01-09)
Reviewed
Grose, RP  (2016-01-25)
Created
Rothfels, K  (2016-01-09)
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