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Fibroblast Growth Factor Receptor 4 OKDB#: 1006
 Symbols: FGFR4 Species: human
 Synonyms: TKF, JTK2, CD334, MGC20292,TYROSINE KINASE RELATED TO FIBROBLAST GROWTH FACTOR RECEPTOR, TKF  Locus: 5q35.1-qter in Homo sapiens
HPMR


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment NCBI Summary: The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. The genomic organization of this gene, compared to members 1-3, encompasses 18 exons rather than 19 or 20. Although alternative splicing has been observed, there is no evidence that the C-terminal half of the IgIII domain of this protein varies between three alternate forms, as indicated for members 1-3. This particular family member preferentially binds acidic fibroblast growth factor and, although its specific function is unknown, it is overexpressed in gynecological tumor samples, suggesting a role in breast and ovarian tumorigenesis.
General function Receptor
Comment
Cellular localization Plasma membrane
Comment
Ovarian function Follicle development, Follicle atresia, Steroid metabolism, Luteinization
Comment
Expression regulated by
Comment
Ovarian localization Granulosa
Comment Puscheck EE,et al reported that Fibroblast growth factor receptor (FGFR)-4, but not FGFR-3 is expressed in the pregnant ovary. Exogenous FGF-2 modulates steroidogenesis, stimulates tissue plasminogen activator (tPA), and induces germinal vesicle breakdown (GVBD) in cultured follicles. Granulosa cells from several follicular stages express the receptor for FGFR-4 mRNA as assayed by in situ hybridization. FGFR-4 mRNA is not expressed in theca cells or the oocyte. FGFR-3 mRNA is not detected in the ovary by in situ hybridization. These results suggest that FGFR-4 may play a role in mediating the effects of FGF ligands in follicular development in the ovary.
Follicle stages Antral, Preovulatory
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: July 30, 2000, midnight by: hsueh   email:
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last update: July 18, 2006, 3:22 p.m. by: hsueh    email:



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