fibroblast growth factor receptor 3; FGFR-3; CD333 (FGFR3, JTK4)
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Function
- receptor for acidic & basic fibroblast growth factors
- preferentially binds FGF1
Structure
- belongs to the protein kinase superfamily, Tyr protein kinase family, fibroblast growth factor receptor subfamily
- contains 3 Ig-like C2-type domain (immunoglobulin-like)
- contains 1 protein kinase domain
Compartment
membrane
Alternative splicing
named isoforms=3
Expression
- expressed in brain, kidney & testis
- very low or no expression in spleen, heart, & muscle
- in 20- to 22-week old fetuses, it is expressed at high level in kidney, lung, small intestine & brain, & to a lower degree in spleen, liver, & muscle
- epithelial cells show exclusively isoform 2 transcripts
- fibroblastic cells express both isoform 1 & isoform 2
Pathology
- defects in FGFR3 are the cause of
- chromosomal translocation t(4;14)(p16.3;q32.3) involving FGFR3 with the IgH locus may be a cause of multiple myeloma
- defects in FGFR3 are a cause of
Laboratory
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P22607.html
- ↑ Atlas of genetics & cytogenetics in oncology& haematology http://atlasgeneticsoncology.org/genes/FGFR99.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR3
- ↑ Cross M, Dexter TM. Growth factors in development, transformation, and tumorigenesis. Cell. 1991 Jan 25;64(2):271-80. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/1988148
- ↑ Partanen J et al FGFR-4, a novel acidic fibroblast growth factor receptor with a distinct expression pattern. EMBO J. 1991 Jun;10(6):1347-54. PMID: https://www.ncbi.nlm.nih.gov/pubmed/1709094
Database
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:2261
- OMIM: https://mirror.omim.org/entry/100800
- OMIM: https://mirror.omim.org/entry/109800
- OMIM: https://mirror.omim.org/entry/123500
- OMIM: https://mirror.omim.org/entry/134934
- OMIM: https://mirror.omim.org/entry/146000
- OMIM: https://mirror.omim.org/entry/149730
- OMIM: https://mirror.omim.org/entry/162900
- OMIM: https://mirror.omim.org/entry/187600
- OMIM: https://mirror.omim.org/entry/187601
- OMIM: https://mirror.omim.org/entry/254500
- OMIM: https://mirror.omim.org/entry/270230
- OMIM: https://mirror.omim.org/entry/602849
- OMIM: https://mirror.omim.org/entry/603956
- OMIM: https://mirror.omim.org/entry/610474
- UniProt: http://www.uniprot.org/uniprot/P22607.html
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=2261