[1]	NUCLEOTIDE SEQUENCE [GENOMIC DNA]. TISSUE=Placenta; PubMed=2470007 [NCBI, ExPASy, EBI, Israel, Japan] Brooks S., Smith R., Casey G., Dickson C., Peters G.; "Sequence organization of the human int-2 gene and its expression in teratocarcinoma cells."; Oncogene 4:429-436(1989).
[2]	NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan] The MGC Project Team; "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."; Genome Res. 14:2121-2127(2004).
[3]	VARIANT CONGENITAL DEAFNESS PRO-156. DOI=10.1086/510920; PubMed=17236138 [NCBI, ExPASy, EBI, Israel, Japan] Tekin M., Hismi B.O., Fitoz S., Oezdag H., Cengiz F.B., Sirmaci A., Aslan I., Inceoglu B., Yueksel-Konuk E.B., Yilmaz S.T., Yasun O., Akar N.; "Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia."; Am. J. Hum. Genet. 80:338-344(2007).

Comments

FUNCTION: Could be involved in ear development.
DISEASE: Defects in FGF3 are a cause of congenital deafness with inner ear agenesis microtia and microdontia [MIM:610706]. This disorder consits of a unique autosomal recessive syndrome characterized by type I microtia, microdontia, and profound congenital deafness associated with a complete absence of inner ear structures (Michel aplasia).
SIMILARITY: Belongs to the heparin-binding growth factors family.

Copyright

Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.

Cross-references

Sequence databases

EMBL

X14445; CAA32615.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
BC113739; AAI13740.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]

IPI00005729; -.

S04742; S04742.

NP_005238.1; -.

3D structure databases

HSSP

O15520; 1NUN. [HSSP ENTRY / PDB]

ModBase

P11487.

Protein-protein interaction databases

DIP

DIP:4014N; -.

Enzyme and pathway databases

Reactome

REACT_9470; Signaling by FGFR.

Organism-specific databases

GC11M069333; -.

HIX0036170; -.

HGNC:3681; FGF3.

HPA012692; -.

164950; gene. [NCBI / EBI]
610706; phenotype. [NCBI / EBI]

Orphanet

90024; Microdontia - type I microtia - deafness.
2791; Otodental syndrome.

PharmGKB

PA28120; -.

Gene expression databases

P11487; -.

P11487; -.

HS_FGF3; -.

ENSG00000186895; Homo sapiens.

Ontologies

GO:0005576;	Cellular component: extracellular region (inferred from experiment from Reactome).
GO:0008083;	Molecular function: growth factor activity (traceable author statement from ProtInc).
GO:0009653;	Biological process: anatomical structure morphogenesis (traceable author statement from ProtInc).
GO:0008283;	Biological process: cell proliferation (inferred from electronic annotation from UniProtKB-KW).
GO:0008543;	Biological process: fibroblast growth factor receptor signaling pathway (inferred from experiment from Reactome).
QuickGo view.

Family and domain databases

InterPro

IPR002209; GF_heparin_bd.
IPR002348; IL1_HBGF.
Graphical view of domain structure.

PANTHER

PTHR11486; IL1_HBGF; 1.

Pfam

PF00167; FGF; 1.
Pfam graphical view of domain structure.

PRINTS

PR00263; HBGFFGF.
PR00262; IL1HBGF.

ProDom

PD000831; IL1_HBGF; 1.
[Domain structure / List of seq. sharing at least 1 domain]

SMART

SM00442; FGF; 1.
SMART graphical view of domain structure.

PROSITE

PS00247; HBGF_FGF; 1.

Proteomic databases

PRIDE

P11487; -.

Genome annotation databases

Ensembl

ENSG00000186895; Homo sapiens. [Contig view]

GeneID

2248; -.

KEGG

hsa:2248; -.

Phylogenomic databases

HOGENOM

P11487; -.

HOVERGEN

P11487; -.

OMA

P11487; HPSGRVN.

Other

9099; -.

FGF3; Homo sapiens.

View cluster of proteins with at least 50% / 90% / 100% identity.

Keywords

Disease mutation; Glycoprotein; Growth factor; Mitogen; Proto-oncogene; Signal.

Features

Feature table viewer

`Key`	`From To`	`Length`	`Description`	`FTId`
`SIGNAL`	`1 17`	`17`	`Potential.`
`CHAIN`	`18 239`	`222`	`INT-2 proto-oncogene protein.`	`PRO_0000008946`
`CARBOHYD`	`65 65`		`N-linked (GlcNAc...) (Potential).`
`VARIANT`	`156 156`	`1`	`S -> P (in congenital deafness with inner ear agenesis microtia and microdontia).`	`VAR_031848`

Sequence information

Length: 239 AA [This is the length of the unprocessed precursor]

Molecular weight: 26887 Da [This is the MW of the unprocessed precursor]

CRC64: 8DBEF17D2B2E3C63 [This is a checksum on the sequence]

        10         20         30         40         50         60 
MGLIWLLLLS LLEPGWPAAG PGARLRRDAG GRGGVYEHLG GAPRRRKLYC ATKYHLQLHP 

        70         80         90        100        110        120 
SGRVNGSLEN SAYSILEITA VEVGIVAIRG LFSGRYLAMN KRGRLYASEH YSAECEFVER 

       130        140        150        160        170        180 
IHELGYNTYA SRLYRTVSST PGARRQPSAE RLWYVSVNGK GRPRRGFKTR RTQKSSLFLP 

       190        200        210        220        230 
RVLDHRDHEM VRQLQSGLPR PPGKGVQPRR RRQKQSPDNL EPSHVQASRL GSQLEASAH

P11487 in FASTA format

View entry in raw text format (no links)
Report form for errors/updates in this UniProtKB/Swiss-Prot entry

	BLAST submission on ExPASy/SIB or at NCBI (USA)		Sequence analysis tools: ProtParam, ProtScale, Compute pI/Mw, PeptideMass, PeptideCutter, Dotlet (Java)
	ScanProsite, MotifScan		Submit a homology modeling request to SWISS-MODEL
	NPSA Sequence analysis tools