Reviewed, UniProtKB/Swiss-Prot P11487 (FGF3_HUMAN)

Names and origin

Protein names

Recommended name:
    INT-2 proto-oncogene protein
Alternative name(s):
    Fibroblast growth factor 3
      Short name=FGF-3
    Heparin-binding growth factor 3
      Short name=HBGF-3

Gene names

Name:	FGF3
Synonyms:	INT2

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	239 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Could be involved in ear development.
Involvement in disease	Defects in FGF3 are a cause of deafness with labyrinthine aplasia, microtia and microdontia (LAMM) [MIM:610706]; also known as congenital deafness with inner ear agenesis, microtia and microdontia. LAMM consists 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). Ref.3 Ref.4
Sequence similarities	Belongs to the heparin-binding growth factors family.

Ontologies

Keywords
Disease	Disease mutation Proto-oncogene
Domain	Signal
Molecular function	Growth factor Mitogen
PTM	Glycoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	anatomical structure morphogenesis Ref.1 Traceable author statement. Source: ProtInc fibroblast growth factor receptor signaling pathway Inferred from genetic interaction. Source: MGI positive regulation of cell division Inferred from electronic annotation. Source: UniProtKB-KW positive regulation of cell proliferation Inferred from genetic interaction. Source: MGI
Cellular component	extracellular region Ref.1 Inferred from Experiment. Source: Reactome
Molecular function	growth factor activity Ref.1 Traceable author statement. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 17	17	Potential
	Chain	18 – 239	222	INT-2 proto-oncogene protein		PRO_0000008946
Amino acid modifications
	Glycosylation	65	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	6	1	L → P in LAMM; probably impairs secretion. Ref.4		VAR_060492
	Natural variant	156	1	S → P in LAMM. Ref.3		VAR_031848

Sequences

	Sequence		Length	Mass (Da)
	P11487-1 [UniParc]. Last modified October 1, 1989. Version 1. Checksum: 8DBEF17D2B2E3C63	FASTA	239	26,887
	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

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Sequence organization of the human int-2 gene and its expression in teratocarcinoma cells." Brooks S., Smith R., Casey G., Dickson C., Peters G. Oncogene 4:429-436(1989) [PubMed: 2470007] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. Tissue: Placenta.
[2]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]	"Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia." 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. Am. J. Hum. Genet. 80:338-344(2007) [PubMed: 17236138] [Abstract] Cited for: VARIANT LAMM PRO-156.
[4]	"Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia." Tekin M., Ozturkmen Akay H., Fitoz S., Birnbaum S., Cengiz F.B., Sennaroglu L., Incesulu A., Yuksel Konuk E.B., Hasanefendioglu Bayrak A., Senturk S., Cebeci I., Utine G.E., Tuncbilek E., Nance W.E., Duman D. Clin. Genet. 73:554-565(2008) [PubMed: 18435799] [Abstract] Cited for: VARIANT LAMM PRO-6.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	X14445 Genomic DNA. Translation: CAA32615.1. BC113739 mRNA. Translation: AAI13740.1.
IPI	IPI00005729.
PIR	S04742.
RefSeq	NP_005238.1.
UniGene	Hs.37092
3D structure databases
SMR	P11487. Positions 36-183.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-4014N.
STRING	P11487.
Proteomic databases
PRIDE	P11487.
Genome annotation databases
Ensembl	ENST00000334134; ENSP00000334122; ENSG00000186895; Homo sapiens. [Genome view]
GeneID	2248.
KEGG	hsa:2248.
UCSC	uc001oph.1. human.
Organism-specific databases
CTD	2248.
GeneCards	GC11M069333.
H-InvDB	HIX0036170.
HGNC	HGNC:3681. FGF3.
HPA	HPA012692.
MIM	164950. gene. 610706. phenotype.
Orphanet	90024. Microdontia - type I microtia - deafness. 2791. Otodental syndrome.
PharmGKB	PA28120.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG19616.
HOGENOM	HBG715603.
HOVERGEN	P11487.
InParanoid	P11487.
OMA	HPSGRVN.
OrthoDB	EOG9GJ28T.
PhylomeDB	P11487.
Enzyme and pathway databases
Reactome	REACT_9470. Signaling by FGFR.
Gene expression databases
ArrayExpress	P11487.
Bgee	P11487.
CleanEx	HS_FGF3.
Genevestigator	P11487.
GermOnline	ENSG00000186895. Homo sapiens.
Family and domain databases
InterPro	IPR008996. Cytokine_IL1-like. IPR002209. GF_heparin_bd. IPR002348. IL1_HBGF. [Graphical view]
PANTHER	PTHR11486. IL1_HBGF. 1 hit.
Pfam	PF00167. FGF. 1 hit. [Graphical view]
PRINTS	PR00263. HBGFFGF. PR00262. IL1HBGF.
SMART	SM00442. FGF. 1 hit. [Graphical view]
PROSITE	PS00247. HBGF_FGF. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	9099.
SOURCE	Search...

Entry information

Entry name

FGF3_HUMAN

Accession

Primary (citable) accession number: P11487
Secondary accession number(s): Q0VG69

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1989
Last sequence update:	October 1, 1989
Last modified:	January 19, 2010
This is version 84 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.