This page was produced as an assignment for Genetics 677 at UW-Madison, Spring 2010

H. Sapiens FGFR3 gene

Located on chromosome 4, the FGFR3 gene encodes for a member of the fibroblast growth factor receptor family, these members are highly homologous but are expressed differently during development. FGFR3 specifically binds acidic and basic fibroblast growth factor and is normally found in the central nervous system and prebone tissue since it plays a role in bone development and maintenance. [1] Alternative splicing can produce three different isoforms of the protein, two of which have been observed and the other is theoretical. The most prominent variant, isoform 1, is what will be discussed here. [2]


Picture
The location of the FGFR3 gene on chromosome 4

Full name: Fibroblast growth factor receptor 3
Location: 4p16.3
Gene size: 14,976 bp
mRNA Accession Number: NM_000142.3
Protein Accession Number: NP_000133.1
Uniprot Accession Number: P22607
FASTA sequence:

fgfr3_fasta.doc
File Size: 32 kb
File Type: doc
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References
[1] Bocian, M., Church, D.M., Fielder T.J., Shiang, R., Thompson, L.M., Wasmuth, J.J., Winokur, S.T., and Zhu, Y. (1994) Mutations in the Transmembrane Domain of FGFR3 Cause the Most Common Genetic Form of Dwarfism, Achondroplasia. Cell, Vol. 78, 335-342. doi:10.1016/0092-8674(94)90302-6
[2] Entrez Gene: http://www.ncbi.nlm.nih.gov/gene/2261?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum

Created by Alex Joyce
ajoyce@wisc.edu
Last updated: Feb. 7, 2010
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