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Homo sapiens fibroblast growth factor 3 (FGF3), mRNA.


RefSeq Accession Definition Sequence Price Select
NM_005247 Homo sapiens fibroblast growth factor 3 (FGF3), mRNA. Full Lenth $448.92
ORF Sequence $208.80


RefSeq Version NM_005247.2, 15451899
Length 1548 bp
Structure linear
Update Date 01-MAY-2011
Organism Homo sapiens (human)
Definition Homo sapiens fibroblast growth factor 3 (FGF3), mRNA.
Product fibroblast growth factor 3 precursor
Comment

Summary: The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified by its similarity with mouse fgf3/int-2, a proto-oncogene activated in virally induced mammary tumors in the mouse. Frequent amplification of this gene has been found in human tumors, which may be important for neoplastic transformation and tumor progression. Studies of the similar genes in mouse and chicken suggested the role in inner ear formation. [provided by RefSeq].

RefSeq NP_005238.1
CDS 492..1211
Exon (1)1..711
Exon (2)1..711
Exon (3)712..815
Exon (4)816..1548
Translation MGLIWLLLLSLLEPGWPAAGPGARLRRDAGGRGGVYEHLGGAPRRRKLYCATKYHLQLHP SGRVNGSLENSAYSILEITAVEVGIVAIRGLFSGRYLAMNKRGRLYASEHYSAECEFVER IHELGYNTYASRLYRTVSSTPGARRQPSAERLWYVSVNGKGRPRRGFKTRRTQKSSLFLP RVLDHRDHEMVRQLQSGLPRPPGKGVQPRRRRQKQSPDNLEPSHVQASRLGSQLEASAH
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Position Chain Variation Link
complement(233)-g, cdbSNP:41408348
complement(318)-g, cdbSNP:12418223
complement(560)-c, adbSNP:41538178
complement(794)-g, cdbSNP:61623544
complement(836)-g, adbSNP:116162988
complement(837)-t, cdbSNP:79472069
complement(899)-t, cdbSNP:35420992
complement(1003)-t, cdbSNP:35983315
1009+a, tdbSNP:7110221
complement(1055)-g, adbSNP:113473565
complement(1076)-c, adbSNP:115545058
complement(1120)-t, cdbSNP:115452181
complement(1471)-t, cdbSNP:117217211
Gene SymbolFGF3
Gene SynonymHBGF-3; INT2
Chromosome11
Locus Map11q13
All Transcripts NM_005247
Title Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome .
Author Riazuddin,S., Ahmed,Z.M., Hegde,R.S., Khan,S.N., Nasir,I., Shaukat,U., Riazuddin,S., Butman,J.A., Griffith,A.J., Friedman,T.B. and Choi,B.Y.
Journal BMC Med. Genet. 12, 21 (2011)
Title Genome-wide association study identifies five new breast cancer susceptibility loci .
Author Turnbull,C., Ahmed,S., Morrison,J., Pernet,D., Renwick,A., Maranian,M., Seal,S., Ghoussaini,M., Hines,S., Healey,C.S., Hughes,D., Warren-Perry,M., Tapper,W., Eccles,D., Evans,D.G., Hooning,M., Schutte,M., van den Ouweland,A., Houlston,R., Ross,G., Langford,C., Pharoah,P.D., Stratton,M.R., Dunning,A.M., Rahman,N. and Easton,D.F.
Journal Nat. Genet. 42 (6), 504-507 (2010)
Title A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia .
Author Ramsebner,R., Ludwig,M., Parzefall,T., Lucas,T., Baumgartner,W.D., Bodamer,O., Cengiz,F.B., Schoefer,C., Tekin,M. and Frei,K.
Journal Laryngoscope 120 (2), 359-364 (2010)
Title Modulation of Fgf3 dosage in mouse and men mirrors evolution of mammalian dentition .
Author Charles,C., Lazzari,V., Tafforeau,P., Schimmang,T., Tekin,M., Klein,O. and Viriot,L.
Journal Proc. Natl. Acad. Sci. U.S.A. 106 (52), 22364-22368 (2009)
Title The transition from radial glial to intermediate progenitor cell is inhibited by FGF signaling during corticogenesis .
Author Kang,W., Wong,L.C., Shi,S.H. and Hebert,J.M.
Journal J. Neurosci. 29 (46), 14571-14580 (2009)
Title Identification of six novel autophosphorylation sites on fibroblast growth factor receptor 1 and elucidation of their importance in receptor activation and signal transduction .
Author Mohammadi,M., Dikic,I., Sorokin,A., Burgess,W.H., Jaye,M. and Schlessinger,J.
Journal Mol. Cell. Biol. 16 (3), 977-989 (1996)
Title Mice homozygous for a targeted disruption of the proto-oncogene int-2 have developmental defects in the tail and inner ear .
Author Mansour,S.L., Goddard,J.M. and Capecchi,M.R.
Journal Development 117 (1), 13-28 (1993)
Title The int-2 proto-oncogene is responsible for induction of the inner ear .
Author Represa,J., Leon,Y., Miner,C. and Giraldez,F.
Journal Nature 353 (6344), 561-563 (1991)
Title Sequence organization of the human int-2 gene and its expression in teratocarcinoma cells .
Author Brookes,S., Smith,R., Casey,G., Dickson,C. and Peters,G.
Journal Oncogene 4 (4), 429-436 (1989)
Title Characterization and chromosome assignment of the human homolog of int-2, a potential proto-oncogene .
Author Casey,G., Smith,R., McGillivray,D., Peters,G. and Dickson,C.
Journal Mol. Cell. Biol. 6 (2), 502-510 (1986)

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