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MGP001071

UniProt Annotations

Entry Information
Gene Namefibroblast growth factor 9
Protein EntryFGF9_HUMAN
UniProt IDP31371
SpeciesHuman
Comments
Comment typeDescription
DiseaseMultiple synostoses syndrome 3 (SYNS3) [MIM:612961]: A bone disease characterized by multiple progressive joint fusions that commonly involve proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints. Additional features can include progressive conductive deafness and facial dysmorphism. {ECO:0000269|PubMed:19589401}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionPlays an important role in the regulation of embryonic development, cell proliferation, cell differentiation and cell migration. May have a role in glial cell growth and differentiation during development, gliosis during repair and regeneration of brain tissue after damage, differentiation and survival of neuronal cells, and growth stimulation of glial tumors. {ECO:0000269|PubMed:16597617, ECO:0000269|PubMed:8663044}.
MiscellaneousBiochemical analysis of the Asn-99 mutation reveals a significantly impaired FGF signaling, as evidenced by diminished activity of the MAPK1/MAPK2 pathway and decreases CTNNB1 and MYC expression when compared with wild-type protein. Binding of mutant protein to the receptor FGFR3 is severely impaired, although homodimerization of mutant to itself or wild-type is not detectably affected, providing a basis for the observed defective FGF9 signaling.
PtmN-glycosylated.
PtmThree molecular species were found (30 kDa, 29 kDa and 25 kDa), cleaved at Leu-4, Val-13 and Ser-34 respectively. The smaller ones might be products of proteolytic digestion. Furthermore, there may be a functional signal sequence in the 30 kDa species which is uncleavable in the secretion step.
SimilarityBelongs to the heparin-binding growth factors family. {ECO:0000305}.
Subcellular LocationSecreted.
SubunitMonomer. Homodimer. Interacts with FGFR1, FGFR2, FGFR3 and FGFR4. Affinity between fibroblast growth factors (FGFs) and their receptors is increased by heparan sulfate glycosaminoglycans that function as coreceptors. {ECO:0000269|PubMed:11060292, ECO:0000269|PubMed:11223514, ECO:0000269|PubMed:16597617, ECO:0000269|PubMed:8663044}.
Tissue SpecificityGlial cells.
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/fgf9/";
Web ResourceName=R&D Systems' cytokine source book: FGF-9; URL="http://www.rndsystems.com/molecule_detail.aspx?m=1436";
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