LOCUS NM_005247 1540 bp mRNA linear PRI 11-OCT-2024
DEFINITION Homo sapiens fibroblast growth factor 3 (FGF3), mRNA.
ACCESSION NM_005247
VERSION NM_005247.4
KEYWORDS RefSeq; MANE Select.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 1540)
AUTHORS Hutchings,C. and Sela-Donenfeld,D.
TITLE Primer on FGF3
JOURNAL Differentiation 139, 100730 (2024)
PUBMED 37741710
REMARK GeneRIF: Primer on FGF3.
Review article
REFERENCE 2 (bases 1 to 1540)
AUTHORS Mao,P., Cohen,O., Kowalski,K.J., Kusiel,J.G., Buendia-Buendia,J.E.,
Cuoco,M.S., Exman,P., Wander,S.A., Waks,A.G., Nayar,U., Chung,J.,
Freeman,S., Rozenblatt-Rosen,O., Miller,V.A., Piccioni,F.,
Root,D.E., Regev,A., Winer,E.P., Lin,N.U. and Wagle,N.
TITLE Acquired FGFR and FGF Alterations Confer Resistance to Estrogen
Receptor (ER) Targeted Therapy in ER+ Metastatic Breast Cancer
JOURNAL Clin Cancer Res 26 (22), 5974-5989 (2020)
PUBMED 32723837
REMARK GeneRIF: Acquired FGFR and FGF Alterations Confer Resistance to
Estrogen Receptor (ER) Targeted Therapy in ER(+) Metastatic Breast
Cancer.
REFERENCE 3 (bases 1 to 1540)
AUTHORS Carpio Horta,K., Weiss,S.G., Miranda,K., Sebastiani,A.M.,
Costa,D.J.D., Matsumoto,M.A.N., Maranon-Vasquez,G.A., Vieira,A.R.,
Scariot,R. and Kuchler,E.C.
TITLE Polymorphisms in FGF3, FGF10, and FGF13 May Contribute to the
Presence of Temporomandibular Disorders in Patients Who Required
Orthognathic Surgery
JOURNAL J Craniofac Surg 30 (7), 2082-2084 (2019)
PUBMED 31574782
REMARK GeneRIF: Genetic polymorphisms in FGF3, FGF10, and FGF13 genes were
associated with temporomandibular disorders in a population with
dentofacial deformities
REFERENCE 4 (bases 1 to 1540)
AUTHORS Al Yassin,A., D'Arco,F., Morin,M., Pagarkar,W.,
Harrop-Griffiths,K., Shaida,A., Fernandez,E., Cullup,T.,
De-Souza,B., Moreno-Pelayo,M.A. and Bitner-Glindzicz,M.
TITLE Three New Mutations and Mild, Asymmetrical Phenotype in the Highly
Distinctive LAMM Syndrome: A Report of Eight Further Cases
JOURNAL Genes (Basel) 10 (7), 529 (2019)
PUBMED 31336982
REMARK GeneRIF: eight cases of LAMM syndrome with three novel FGF3
mutations
Publication Status: Online-Only
REFERENCE 5 (bases 1 to 1540)
AUTHORS Liu,L.M.
TITLE Inhibitory effects of int-2 gene on the invasion and metastasis of
oral cancer cells
JOURNAL Eur Rev Med Pharmacol Sci 21 (24), 5677-5682 (2017)
PUBMED 29272002
REMARK GeneRIF: Upregulation of int-2 expression can significantly inhibit
the invasion and metastasis of BcaCD885 cells
REFERENCE 6 (bases 1 to 1540)
AUTHORS Mansour,S.L., Goddard,J.M. and Capecchi,M.R.
TITLE Mice homozygous for a targeted disruption of the proto-oncogene
int-2 have developmental defects in the tail and inner ear
JOURNAL Development 117 (1), 13-28 (1993)
PUBMED 8223243
REFERENCE 7 (bases 1 to 1540)
AUTHORS Ordonez,J. and Tekin,M.
TITLE Congenital Deafness with Labyrinthine Aplasia, Microtia, and
Microdontia
JOURNAL (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
Amemiya A (Eds.);
GENEREVIEWS(R);
(1993)
PUBMED 22993869
REFERENCE 8 (bases 1 to 1540)
AUTHORS Represa,J., Leon,Y., Miner,C. and Giraldez,F.
TITLE The int-2 proto-oncogene is responsible for induction of the inner
ear
JOURNAL Nature 353 (6344), 561-563 (1991)
PUBMED 1922362
REFERENCE 9 (bases 1 to 1540)
AUTHORS Brookes,S., Smith,R., Casey,G., Dickson,C. and Peters,G.
TITLE Sequence organization of the human int-2 gene and its expression in
teratocarcinoma cells
JOURNAL Oncogene 4 (4), 429-436 (1989)
PUBMED 2470007
REFERENCE 10 (bases 1 to 1540)
AUTHORS Casey,G., Smith,R., McGillivray,D., Peters,G. and Dickson,C.
TITLE Characterization and chromosome assignment of the human homolog of
int-2, a potential proto-oncogene
JOURNAL Mol Cell Biol 6 (2), 502-510 (1986)
PUBMED 3023852
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AP006345.4 and BC113739.1.
This sequence is a reference standard in the RefSeqGene project.
On May 7, 2019 this sequence version replaced NM_005247.3.
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, Jul 2008].
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: BC113739.1, SRR3476690.433211.1
[ECO:0000332]
RNAseq introns :: single sample supports all introns
SAMN03465403 [ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
MANE Ensembl match :: ENST00000334134.4/ ENSP00000334122.2
RefSeq Select criteria :: based on single protein-coding transcript
##RefSeq-Attributes-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-392 AP006345.4 79206-79597 c
393-1284 BC113739.1 1-892
1285-1540 AP006345.4 70149-70404 c
FEATURES Location/Qualifiers
source 1..1540
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="11"
/map="11q13.3"
gene 1..1540
/gene="FGF3"
/gene_synonym="HBGF-3; INT2"
/note="fibroblast growth factor 3"
/db_xref="GeneID:2248"
/db_xref="HGNC:HGNC:3681"
/db_xref="MIM:164950"
exon 1..703
/gene="FGF3"
/gene_synonym="HBGF-3; INT2"
/inference="alignment:Splign:2.1.0"
CDS 484..1203
/gene="FGF3"
/gene_synonym="HBGF-3; INT2"
/note="fibroblast growth factor 3 (murine mammary tumor
virus integration site (v-int-2) oncogene homolog); INT-2
proto-oncogene protein; murine mammary tumor virus
integration site 2, mouse; oncogene INT2; V-INT2 murine
mammary tumor virus integration site oncogene homolog;
FGF-3; proto-oncogene Int-2; heparin-binding growth factor
3"
/codon_start=1
/product="fibroblast growth factor 3 precursor"
/protein_id="NP_005238.1"
/db_xref="CCDS:CCDS8195.1"
/db_xref="GeneID:2248"
/db_xref="HGNC:HGNC:3681"
/db_xref="MIM:164950"
/translation="MGLIWLLLLSLLEPGWPAAGPGARLRRDAGGRGGVYEHLGGAPR
RRKLYCATKYHLQLHPSGRVNGSLENSAYSILEITAVEVGIVAIRGLFSGRYLAMNKR
GRLYASEHYSAECEFVERIHELGYNTYASRLYRTVSSTPGARRQPSAERLWYVSVNGK
GRPRRGFKTRRTQKSSLFLPRVLDHRDHEMVRQLQSGLPRPPGKGVQPRRRRQKQSPD
NLEPSHVQASRLGSQLEASAH"
sig_peptide 484..534
/gene="FGF3"
/gene_synonym="HBGF-3; INT2"
/inference="COORDINATES: ab initio prediction:SignalP:6.0"
mat_peptide 535..1200
/gene="FGF3"
/gene_synonym="HBGF-3; INT2"
/product="Fibroblast growth factor 3. /id=PRO_0000008946"
/note="propagated from UniProtKB/Swiss-Prot (P11487.1)"
misc_feature 676..678
/gene="FGF3"
/gene_synonym="HBGF-3; INT2"
/note="N-linked (GlcNAc...) asparagine.
/evidence=ECO:0000255; propagated from
UniProtKB/Swiss-Prot (P11487.1); glycosylation site"
misc_feature 1060..1200
/gene="FGF3"
/gene_synonym="HBGF-3; INT2"
/note="propagated from UniProtKB/Swiss-Prot (P11487.1);
Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
exon 704..807
/gene="FGF3"
/gene_synonym="HBGF-3; INT2"
/inference="alignment:Splign:2.1.0"
exon 808..1540
/gene="FGF3"
/gene_synonym="HBGF-3; INT2"
/inference="alignment:Splign:2.1.0"
regulatory 1522..1527
/regulatory_class="polyA_signal_sequence"
/gene="FGF3"
/gene_synonym="HBGF-3; INT2"
/note="hexamer: ATTAAA"
polyA_site 1540
/gene="FGF3"
/gene_synonym="HBGF-3; INT2"
/note="major polyA site"
ORIGIN
1 agagccagga gggctttcgg gggcgtgggg cgcgctgcgg agcggagccg cggctcgacg
61 gcggtgcgct ggcggcgagt gtatgcagac ggcgcccggc ccgaaccccg agccccgcgg
121 ggctccccac ccgccggcct cccgcccctc ccgcgcctcc gcctggggac cacgtcggcc
181 ttttgttggc gaaccgtcct ttctttcagc gctttgcgca gcaacggaaa tttcattgct
241 cctgggtgga aattaaaggg actcgcgttc cctctctccc tctccctctc ccactctccc
301 tctctttctc tctctcgccc acccttcccc cttcttcccc cacctttccc gcgaagccgg
361 agtcagcatc tccaggcgcg ggatcccgct ccgagcacct cgcagctgtc cggctgccgc
421 cccttccatg ggcgccgcgc tcgcctgcag ccgccgccgc cgcggggcgg gcgcgatgcc
481 acgatgggcc taatctggct gctactgctc agcctgctgg agcccggctg gcccgcagcg
541 ggccctgggg cgcggttgcg gcgcgatgcg ggcggccgtg gcggcgtcta cgagcacctt
601 ggcggggcgc cccggcgccg caagctctac tgcgccacga agtaccacct ccagctgcac
661 ccgagcggcc gcgtcaacgg cagcctggag aacagcgcct acagtatttt ggagataacg
721 gcagtggagg tgggcattgt ggccatcagg ggtctcttct ccgggcggta cctggccatg
781 aacaagaggg gacgactcta tgcttcggag cactacagcg ccgagtgcga gtttgtggag
841 cggatccacg agctgggcta taatacgtat gcctcccggc tgtaccggac ggtgtctagt
901 acgcctgggg cccgccggca gcccagcgcc gagagactgt ggtacgtgtc tgtgaacggc
961 aagggccggc cccgcagggg cttcaagacc cgccgcacac agaagtcctc cctgttcctg
1021 ccccgcgtgc tggaccacag ggaccacgag atggtgcggc agctacagag tgggctgccc
1081 agaccccctg gtaagggggt ccagccccga cggcggcggc agaagcagag cccggataac
1141 ctggagccct ctcacgttca ggcttcgaga ctgggctccc agctggaggc cagtgcgcac
1201 tagctgggcc tggtggccac cgccagagct cctggcgaca tcttggcgtg gcagcctctt
1261 gactctgact ctcctccttg agcccttgcc cctgcgtccc gcgtctgggt tctcagctat
1321 ttccagagcc agctcaaatc agggtccagt gggaactgaa gagggcccaa gtcggagctc
1381 ggagggggct gcctgcaatg cagggcattt gtgggtctgt gtggcaggaa gccggcaggg
1441 aagggcctga gtgccagccc tggcagactg aggagcctcc caggagcagc ggggcagtgt
1501 ggggctttgt gtcatcacaa cattaaagta ttttattcta
//