2024-04-20 12:31:47, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_033164 1003 bp mRNA linear PRI 07-JUL-2013 DEFINITION Homo sapiens fibroblast growth factor 8 (androgen-induced) (FGF8), transcript variant E, mRNA. ACCESSION NM_033164 VERSION NM_033164.3 GI:298919214 KEYWORDS RefSeq. 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 1003) AUTHORS Wang,W., Chen,X., Li,T., Li,Y., Wang,R., He,D., Luo,W., Li,X. and Wu,X. TITLE Screening a phage display library for a novel FGF8b-binding peptide with anti-tumor effect on prostate cancer JOURNAL Exp. Cell Res. 319 (8), 1156-1164 (2013) PUBMED 23466786 REMARK GeneRIF: A novel FGF8b-binding peptide with anti-tumor effect on prostate cancer. REFERENCE 2 (bases 1 to 1003) AUTHORS Costa-Barbosa,F.A., Balasubramanian,R., Keefe,K.W., Shaw,N.D., Al-Tassan,N., Plummer,L., Dwyer,A.A., Buck,C.L., Choi,J.H., Seminara,S.B., Quinton,R., Monies,D., Meyer,B., Hall,J.E., Pitteloud,N. and Crowley,W.F. Jr. TITLE Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes JOURNAL J. Clin. Endocrinol. Metab. 98 (5), E943-E953 (2013) PUBMED 23533228 REMARK GeneRIF: genetic association study in population in Massachusetts: Data suggest that clinical features in Kallmann syndrome (KS) are associated with genetic causes: dental agenesis/digital bony abnormalities are associated with variations/mutations in FGF8. REFERENCE 3 (bases 1 to 1003) AUTHORS Elo,T., Sipila,P., Valve,E., Kujala,P., Toppari,J., Poutanen,M. and Harkonen,P. TITLE Fibroblast growth factor 8b causes progressive stromal and epithelial changes in the epididymis and degeneration of the seminiferous epithelium in the testis of transgenic mice JOURNAL Biol. Reprod. 86 (5), 157 (2012) PUBMED 22423049 REMARK GeneRIF: The results suggest that prolonged and enhanced human fibroblast growth factor 8b signaling induces dramatic changes in the epididymis and testis that lead to infertility in a portion of the human fibroblast growth factor 8b transgenic male mice. Publication Status: Online-Only REFERENCE 4 (bases 1 to 1003) AUTHORS Yoshiura,K., Leysens,N.J., Chang,J., Ward,D., Murray,J.C. and Muenke,M. TITLE Genomic structure, sequence, and mapping of human FGF8 with no evidence for its role in craniosynostosis/limb defect syndromes JOURNAL Am. J. Med. Genet. 72 (3), 354-362 (1997) PUBMED 9332670 REFERENCE 5 (bases 1 to 1003) AUTHORS Ghosh,A.K., Shankar,D.B., Shackleford,G.M., Wu,K., T'Ang,A., Miller,G.J., Zheng,J. and Roy-Burman,P. TITLE Molecular cloning and characterization of human FGF8 alternative messenger RNA forms JOURNAL Cell Growth Differ. 7 (10), 1425-1434 (1996) PUBMED 8891346 REFERENCE 6 (bases 1 to 1003) AUTHORS Payson,R.A., Wu,J., Liu,Y. and Chiu,I.M. TITLE The human FGF-8 gene localizes on chromosome 10q24 and is subjected to induction by androgen in breast cancer cells JOURNAL Oncogene 13 (1), 47-53 (1996) PUBMED 8700553 REFERENCE 7 (bases 1 to 1003) AUTHORS Gemel,J., Gorry,M., Ehrlich,G.D. and MacArthur,C.A. TITLE Structure and sequence of human FGF8 JOURNAL Genomics 35 (1), 253-257 (1996) PUBMED 8661131 REFERENCE 8 (bases 1 to 1003) AUTHORS Ornitz,D.M., Xu,J., Colvin,J.S., McEwen,D.G., MacArthur,C.A., Coulier,F., Gao,G. and Goldfarb,M. TITLE Receptor specificity of the fibroblast growth factor family JOURNAL J. Biol. Chem. 271 (25), 15292-15297 (1996) PUBMED 8663044 REFERENCE 9 (bases 1 to 1003) AUTHORS White,R.A., Dowler,L.L., Angeloni,S.V., Pasztor,L.M. and MacArthur,C.A. TITLE Assignment of FGF8 to human chromosome 10q25-q26: mutations in FGF8 may be responsible for some types of acrocephalosyndactyly linked to this region JOURNAL Genomics 30 (1), 109-111 (1995) PUBMED 8595889 REFERENCE 10 (bases 1 to 1003) AUTHORS Tanaka,A., Miyamoto,K., Matsuo,H., Matsumoto,K. and Yoshida,H. TITLE Human androgen-induced growth factor in prostate and breast cancer cells: its molecular cloning and growth properties JOURNAL FEBS Lett. 363 (3), 226-230 (1995) PUBMED 7737407 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BC128236.1, U46213.1 and AC010789.9. On Jun 22, 2010 this sequence version replaced gi:170763473. 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 protein is known to be a factor that supports androgen and anchorage independent growth of mammary tumor cells. Overexpression of this gene has been shown to increase tumor growth and angiogensis. The adult expression of this gene is restricted to testes and ovaries. Temporal and spatial pattern of this gene expression suggests its function as an embryonic epithelial factor. Studies of the mouse and chick homologs revealed roles in midbrain and limb development, organogenesis, embryo gastrulation and left-right axis determination. The alternative splicing of this gene results in four transcript variants. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (E) uses an alternate splice site, compared to variant F. The encoded isoform (E) is shorter than isoform F. 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 :: U46213.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025084 [ECO:0000350] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-102 BC128236.1 1-102 103-446 U46213.1 1-344 447-447 AC010789.9 100226-100226 c 448-791 U46213.1 346-689 792-1003 AC010789.9 98827-99038 c FEATURES Location/Qualifiers source 1..1003 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="10" /map="10q24" gene 1..1003 /gene="FGF8" /gene_synonym="AIGF; FGF-8; HBGF-8; HH6; KAL6" /note="fibroblast growth factor 8 (androgen-induced)" /db_xref="GeneID:2253" /db_xref="HGNC:3686" /db_xref="HPRD:02727" /db_xref="MIM:600483" exon 1..134 /gene="FGF8" /gene_synonym="AIGF; FGF-8; HBGF-8; HH6; KAL6" /inference="alignment:Splign:1.39.8" STS 25..841 /gene="FGF8" /gene_synonym="AIGF; FGF-8; HBGF-8; HH6; KAL6" /db_xref="UniSTS:483139" variation 39 /gene="FGF8" /gene_synonym="AIGF; FGF-8; HBGF-8; HH6; KAL6" /replace="a" /replace="c" /db_xref="dbSNP:2735432" CDS 103..804 /gene="FGF8" /gene_synonym="AIGF; FGF-8; HBGF-8; HH6; KAL6" /note="isoform E precursor is encoded by transcript variant E; heparin-binding growth factor 8; androgen-induced growth factor" /codon_start=1 /product="fibroblast growth factor 8 isoform E precursor" /protein_id="NP_149354.1" /db_xref="GI:15147348" /db_xref="CCDS:CCDS7517.1" /db_xref="GeneID:2253" /db_xref="HGNC:3686" /db_xref="HPRD:02727" /db_xref="MIM:600483" /translation="
MGSPRSALSCLLLHLLVLCLQAQEGPGRGPALGRELASLFRAGREPQGVSQQHVREQSLVTDQLSRRLIRTYQLYSRTSGKHVQVLANKRINAMAEDGDPFAKLIVETDTFGSRVRVRGAETGLYICMNKKGKLIAKSNGKGKDCVFTEIVLENNYTALQNAKYEGWYMAFTRKGRPRKGSKTRQHQREVHFMKRLPRGHHTTEQSLRFEFLNYPPFTRSLRGSQRTWAPEPR
" sig_peptide 103..168 /gene="FGF8" /gene_synonym="AIGF; FGF-8; HBGF-8; HH6; KAL6" /inference="COORDINATES: ab initio prediction:SignalP:4.0" mat_peptide 169..801 /gene="FGF8" /gene_synonym="AIGF; FGF-8; HBGF-8; HH6; KAL6" /product="fibroblast growth factor 8 isoform E" misc_feature 316..690 /gene="FGF8" /gene_synonym="AIGF; FGF-8; HBGF-8; HH6; KAL6" /note="Acidic and basic fibroblast growth factor family; FGFs are mitogens, which stimulate growth or differentiation of cells of mesodermal or neuroectodermal origin. The family plays essential roles in patterning and differentiation during vertebrate...; Region: FGF; cd00058" /db_xref="CDD:28940" misc_feature order(316..318,325..327,421..423,427..429,433..435, 523..525,547..549,556..573,577..579,673..675,679..681, 685..687) /gene="FGF8" /gene_synonym="AIGF; FGF-8; HBGF-8; HH6; KAL6" /note="receptor interaction site; other site" /db_xref="CDD:28940" misc_feature order(616..621,634..636,646..648,664..666) /gene="FGF8" /gene_synonym="AIGF; FGF-8; HBGF-8; HH6; KAL6" /note="heparin binding site (glycine box) [chemical binding]; other site" /db_xref="CDD:28940" STS 124..745 /gene="FGF8" /gene_synonym="AIGF; FGF-8; HBGF-8; HH6; KAL6" /standard_name="Fgf8" /db_xref="UniSTS:258274" exon 135..171 /gene="FGF8" /gene_synonym="AIGF; FGF-8; HBGF-8; HH6; KAL6" /inference="alignment:Splign:1.39.8" STS 137..333 /gene="FGF8" /gene_synonym="AIGF; FGF-8; HBGF-8; HH6; KAL6" /standard_name="Fgf8" /db_xref="UniSTS:506892" exon 172..258 /gene="FGF8" /gene_synonym="AIGF; FGF-8; HBGF-8; HH6; KAL6" /inference="alignment:Splign:1.39.8" exon 259..406 /gene="FGF8" /gene_synonym="AIGF; FGF-8; HBGF-8; HH6; KAL6" /inference="alignment:Splign:1.39.8" exon 407..513 /gene="FGF8" /gene_synonym="AIGF; FGF-8; HBGF-8; HH6; KAL6" /inference="alignment:Splign:1.39.8" variation 447 /gene="FGF8" /gene_synonym="AIGF; FGF-8; HBGF-8; HH6; KAL6" /replace="c" /replace="t" /db_xref="dbSNP:1048331" exon 514..1003 /gene="FGF8" /gene_synonym="AIGF; FGF-8; HBGF-8; HH6; KAL6" /inference="alignment:Splign:1.39.8" STS 542..677 /gene="FGF8" /gene_synonym="AIGF; FGF-8; HBGF-8; HH6; KAL6" /standard_name="RH18043" /db_xref="UniSTS:64634" STS 564..785 /gene="FGF8" /gene_synonym="AIGF; FGF-8; HBGF-8; HH6; KAL6" /standard_name="D1Bda63" /db_xref="UniSTS:239816" variation 792 /gene="FGF8" /gene_synonym="AIGF; FGF-8; HBGF-8; HH6; KAL6" /replace="c" /replace="g" /db_xref="dbSNP:1071634" variation 928 /gene="FGF8" /gene_synonym="AIGF; FGF-8; HBGF-8; HH6; KAL6" /replace="c" /replace="g" /db_xref="dbSNP:3218239" variation 969 /gene="FGF8" /gene_synonym="AIGF; FGF-8; HBGF-8; HH6; KAL6" /replace="" /replace="t" /replace="ttttt" /db_xref="dbSNP:71016346" ORIGIN
acccgcaccctctccgctcgcgccctgctcagcgcgtcctcccgcggcggcccgcgggacggcgtgacccgccgggctctcggtgccccggggccgcgcgccatgggcagcccccgctccgcgctgagctgcctgctgttgcacttgctggtcctctgcctccaagcccaggaaggcccgggcaggggccctgcgctgggcagggagctcgcttccctgttccgggctggccgggagccccagggtgtctcccaacagcatgtgagggagcagagcctggtgacggatcagctcagccgccgcctcatccggacctaccaactctacagccgcaccagcgggaagcacgtgcaggtcctggccaacaagcgcatcaacgccatggcagaggacggcgaccccttcgcaaagctcatcgtggagacggacacctttggaagcagagttcgagtccgaggagccgagacgggcctctacatctgcatgaacaagaaggggaagctgatcgccaagagcaacggcaaaggcaaggactgcgtcttcacggagattgtgctggagaacaactacacagcgctgcagaatgccaagtacgagggctggtacatggccttcacccgcaagggccggccccgcaagggctccaagacgcggcagcaccagcgtgaggtccacttcatgaagcggctgccccggggccaccacaccaccgagcagagcctgcgcttcgagttcctcaactacccgcccttcacgcgcagcctgcgcggcagccagaggacttgggcccccgagccccgataggtgctgcctggccctccccacaatgccagaccgcagagaggctcatcctgtagggcacccaaaactcaagcaagatgagctgtgcgctgctctgcaggctggggaggtgctgggggagccctgggttccggttgttgatattgtttgctgttgggtttttgctgtttttttttttttttttttttttaaaacaaaagag
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:2253 -> Molecular function: GO:0005105 [type 1 fibroblast growth factor receptor binding] evidence: IDA GeneID:2253 -> Molecular function: GO:0005111 [type 2 fibroblast growth factor receptor binding] evidence: IDA GeneID:2253 -> Molecular function: GO:0008083 [growth factor activity] evidence: IDA GeneID:2253 -> Molecular function: GO:0008083 [growth factor activity] evidence: IEA GeneID:2253 -> Biological process: GO:0000165 [MAPK cascade] evidence: IEA GeneID:2253 -> Biological process: GO:0001569 [patterning of blood vessels] evidence: IEA GeneID:2253 -> Biological process: GO:0001656 [metanephros development] evidence: IEP GeneID:2253 -> Biological process: GO:0001658 [branching involved in ureteric bud morphogenesis] evidence: IEA GeneID:2253 -> Biological process: GO:0001759 [organ induction] evidence: IEA GeneID:2253 -> Biological process: GO:0001823 [mesonephros development] evidence: IEP GeneID:2253 -> Biological process: GO:0001839 [neural plate morphogenesis] evidence: IEA GeneID:2253 -> Biological process: GO:0001947 [heart looping] evidence: IEA GeneID:2253 -> Biological process: GO:0001974 [blood vessel remodeling] evidence: IEA GeneID:2253 -> Biological process: GO:0003148 [outflow tract septum morphogenesis] evidence: ISS GeneID:2253 -> Biological process: GO:0003198 [epithelial to mesenchymal transition involved in endocardial cushion formation] evidence: ISS GeneID:2253 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA GeneID:2253 -> Biological process: GO:0007173 [epidermal growth factor receptor signaling pathway] evidence: TAS GeneID:2253 -> Biological process: GO:0007369 [gastrulation] evidence: NAS GeneID:2253 -> Biological process: GO:0008078 [mesodermal cell migration] evidence: IEA GeneID:2253 -> Biological process: GO:0008284 [positive regulation of cell proliferation] evidence: IDA GeneID:2253 -> Biological process: GO:0008284 [positive regulation of cell proliferation] evidence: IEA GeneID:2253 -> Biological process: GO:0008286 [insulin receptor signaling pathway] evidence: TAS GeneID:2253 -> Biological process: GO:0008406 [gonad development] evidence: IMP GeneID:2253 -> Biological process: GO:0008543 [fibroblast growth factor receptor signaling pathway] evidence: IGI GeneID:2253 -> Biological process: GO:0008543 [fibroblast growth factor receptor signaling pathway] evidence: TAS GeneID:2253 -> Biological process: GO:0009653 [anatomical structure morphogenesis] evidence: NAS GeneID:2253 -> Biological process: GO:0010628 [positive regulation of gene expression] evidence: IEA GeneID:2253 -> Biological process: GO:0021543 [pallium development] evidence: IEA GeneID:2253 -> Biological process: GO:0021544 [subpallium development] evidence: IEA GeneID:2253 -> Biological process: GO:0021798 [forebrain dorsal/ventral pattern formation] evidence: IEA GeneID:2253 -> Biological process: GO:0021846 [cell proliferation in forebrain] evidence: IEA GeneID:2253 -> Biological process: GO:0023019 [signal transduction involved in regulation of gene expression] evidence: IEA GeneID:2253 -> Biological process: GO:0030509 [BMP signaling pathway] evidence: IEA GeneID:2253 -> Biological process: GO:0030539 [male genitalia development] evidence: IEA GeneID:2253 -> Biological process: GO:0030878 [thyroid gland development] evidence: IEA GeneID:2253 -> Biological process: GO:0030916 [otic vesicle formation] evidence: IEA GeneID:2253 -> Biological process: GO:0030917 [midbrain-hindbrain boundary development] evidence: IEA GeneID:2253 -> Biological process: GO:0035116 [embryonic hindlimb morphogenesis] evidence: IEA GeneID:2253 -> Biological process: GO:0035909 [aorta morphogenesis] evidence: IEA GeneID:2253 -> Biological process: GO:0038095 [Fc-epsilon receptor signaling pathway] evidence: TAS GeneID:2253 -> Biological process: GO:0042476 [odontogenesis] evidence: IEP GeneID:2253 -> Biological process: GO:0042487 [regulation of odontogenesis of dentin-containing tooth] evidence: IEA GeneID:2253 -> Biological process: GO:0043524 [negative regulation of neuron apoptotic process] evidence: IEA GeneID:2253 -> Biological process: GO:0045087 [innate immune response] evidence: TAS GeneID:2253 -> Biological process: GO:0045840 [positive regulation of mitosis] evidence: IEA GeneID:2253 -> Biological process: GO:0046622 [positive regulation of organ growth] evidence: IEA GeneID:2253 -> Biological process: GO:0048011 [neurotrophin TRK receptor signaling pathway] evidence: TAS GeneID:2253 -> Biological process: GO:0048015 [phosphatidylinositol-mediated signaling] evidence: TAS GeneID:2253 -> Biological process: GO:0048853 [forebrain morphogenesis] evidence: IEA GeneID:2253 -> Biological process: GO:0051781 [positive regulation of cell division] evidence: IEA GeneID:2253 -> Biological process: GO:0055026 [negative regulation of cardiac muscle tissue development] evidence: IMP GeneID:2253 -> Biological process: GO:0060037 [pharyngeal system development] evidence: IEA GeneID:2253 -> Biological process: GO:0060070 [canonical Wnt receptor signaling pathway] evidence: IEA GeneID:2253 -> Biological process: GO:0060128 [corticotropin hormone secreting cell differentiation] evidence: IEA GeneID:2253 -> Biological process: GO:0060129 [thyroid-stimulating hormone-secreting cell differentiation] evidence: IEA GeneID:2253 -> Biological process: GO:0060348 [bone development] evidence: IMP GeneID:2253 -> Biological process: GO:0060425 [lung morphogenesis] evidence: IEA GeneID:2253 -> Biological process: GO:0060445 [branching involved in salivary gland morphogenesis] evidence: IEA GeneID:2253 -> Biological process: GO:0060563 [neuroepithelial cell differentiation] evidence: IDA GeneID:2253 -> Biological process: GO:0071542 [dopaminergic neuron differentiation] evidence: IDA GeneID:2253 -> Biological process: GO:0090134 [cell migration involved in mesendoderm migration] evidence: IEA GeneID:2253 -> Cellular component: GO:0005576 [extracellular region] evidence: TAS GeneID:2253 -> Cellular component: GO:0005615 [extracellular space] evidence: IDA
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