ID   FGF3_HUMAN              Reviewed;         239 AA.
AC   P11487; Q0VG69;
DT   01-OCT-1989, integrated into UniProtKB/Swiss-Prot.
DT   01-OCT-1989, sequence version 1.
DT   03-NOV-2009, entry version 81.
DE   RecName: Full=INT-2 proto-oncogene protein;
DE   AltName: Full=Fibroblast growth factor 3;
DE            Short=FGF-3;
DE   AltName: Full=Heparin-binding growth factor 3;
DE            Short=HBGF-3;
DE   Flags: Precursor;
GN   Name=FGF3; Synonyms=INT2;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RC   TISSUE=Placenta;
RX   MEDLINE=89239468; PubMed=2470007;
RA   Brooks S., Smith R., Casey G., Dickson C., Peters G.;
RT   "Sequence organization of the human int-2 gene and its expression in
RT   teratocarcinoma cells.";
RL   Oncogene 4:429-436(1989).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [3]
RP   VARIANT LAMM PRO-156.
RX   PubMed=17236138; DOI=10.1086/510920;
RA   Tekin M., Hismi B.O., Fitoz S., Oezdag H., Cengiz F.B., Sirmaci A.,
RA   Aslan I., Inceoglu B., Yueksel-Konuk E.B., Yilmaz S.T., Yasun O.,
RA   Akar N.;
RT   "Homozygous mutations in fibroblast growth factor 3 are associated
RT   with a new form of syndromic deafness characterized by inner ear
RT   agenesis, microtia, and microdontia.";
RL   Am. J. Hum. Genet. 80:338-344(2007).
RN   [4]
RP   VARIANT LAMM PRO-6.
RX   PubMed=18435799; DOI=10.1111/j.1399-0004.2008.01004.x;
RA   Tekin M., Ozturkmen Akay H., Fitoz S., Birnbaum S., Cengiz F.B.,
RA   Sennaroglu L., Incesulu A., Yuksel Konuk E.B.,
RA   Hasanefendioglu Bayrak A., Senturk S., Cebeci I., Utine G.E.,
RA   Tuncbilek E., Nance W.E., Duman D.;
RT   "Homozygous FGF3 mutations result in congenital deafness with inner
RT   ear agenesis, microtia, and microdontia.";
RL   Clin. Genet. 73:554-565(2008).
CC   -!- FUNCTION: Could be involved in ear development.
CC   -!- DISEASE: Defects in FGF3 are a cause of deafness with labyrinthine
CC       aplasia, microtia and microdontia (LAMM) [MIM:610706]; also known
CC       as congenital deafness with inner ear agenesis, microtia and
CC       microdontia. LAMM consists of a unique autosomal recessive
CC       syndrome characterized by type I microtia, microdontia, and
CC       profound congenital deafness associated with a complete absence of
CC       inner ear structures (Michel aplasia).
CC   -!- SIMILARITY: Belongs to the heparin-binding growth factors family.
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DR   EMBL; X14445; CAA32615.1; -; Genomic_DNA.
DR   EMBL; BC113739; AAI13740.1; -; mRNA.
DR   IPI; IPI00005729; -.
DR   PIR; S04742; S04742.
DR   RefSeq; NP_005238.1; -.
DR   UniGene; Hs.37092; -.
DR   HSSP; O15520; 1NUN.
DR   DIP; DIP:4014N; -.
DR   STRING; P11487; -.
DR   PRIDE; P11487; -.
DR   Ensembl; ENST00000334134; ENSP00000334122; ENSG00000186895; Homo sapiens.
DR   GeneID; 2248; -.
DR   KEGG; hsa:2248; -.
DR   UCSC; uc001oph.1; human.
DR   CTD; 2248; -.
DR   GeneCards; GC11M069333; -.
DR   H-InvDB; HIX0036170; -.
DR   HGNC; HGNC:3681; FGF3.
DR   HPA; HPA012692; -.
DR   MIM; 164950; gene.
DR   MIM; 610706; phenotype.
DR   Orphanet; 90024; Microdontia - type I microtia - deafness.
DR   Orphanet; 2791; Otodental syndrome.
DR   PharmGKB; PA28120; -.
DR   HOGENOM; P11487; -.
DR   HOVERGEN; P11487; -.
DR   OMA; HPSGRVN; -.
DR   Reactome; REACT_9470; Signaling by FGFR.
DR   NextBio; 9099; -.
DR   ArrayExpress; P11487; -.
DR   Bgee; P11487; -.
DR   CleanEx; HS_FGF3; -.
DR   Genevestigator; P11487; -.
DR   GermOnline; ENSG00000186895; Homo sapiens.
DR   GO; GO:0005576; C:extracellular region; EXP:Reactome.
DR   GO; GO:0008083; F:growth factor activity; TAS:ProtInc.
DR   GO; GO:0009653; P:anatomical structure morphogenesis; TAS:ProtInc.
DR   GO; GO:0008543; P:fibroblast growth factor receptor signaling...; EXP:Reactome.
DR   GO; GO:0051781; P:positive regulation of cell division; IEA:UniProtKB-KW.
DR   InterPro; IPR002209; GF_heparin_bd.
DR   InterPro; IPR002348; IL1_HBGF.
DR   PANTHER; PTHR11486; IL1_HBGF; 1.
DR   Pfam; PF00167; FGF; 1.
DR   PRINTS; PR00263; HBGFFGF.
DR   PRINTS; PR00262; IL1HBGF.
DR   ProDom; PD000831; IL1_HBGF; 1.
DR   SMART; SM00442; FGF; 1.
DR   PROSITE; PS00247; HBGF_FGF; 1.
PE   1: Evidence at protein level;
KW   Complete proteome; Disease mutation; Glycoprotein; Growth factor;
KW   Mitogen; Proto-oncogene; Signal.
FT   SIGNAL        1     17       Potential.
FT   CHAIN        18    239       INT-2 proto-oncogene protein.
FT                                /FTId=PRO_0000008946.
FT   CARBOHYD     65     65       N-linked (GlcNAc...) (Potential).
FT   VARIANT       6      6       L -> P (in LAMM; probably impairs
FT                                secretion).
FT                                /FTId=VAR_060492.
FT   VARIANT     156    156       S -> P (in LAMM).
FT                                /FTId=VAR_031848.
SQ   SEQUENCE   239 AA;  26887 MW;  8DBEF17D2B2E3C63 CRC64;
     MGLIWLLLLS LLEPGWPAAG PGARLRRDAG GRGGVYEHLG GAPRRRKLYC ATKYHLQLHP
     SGRVNGSLEN SAYSILEITA VEVGIVAIRG LFSGRYLAMN KRGRLYASEH YSAECEFVER
     IHELGYNTYA SRLYRTVSST PGARRQPSAE RLWYVSVNGK GRPRRGFKTR RTQKSSLFLP
     RVLDHRDHEM VRQLQSGLPR PPGKGVQPRR RRQKQSPDNL EPSHVQASRL GSQLEASAH
//