Reviewed November 2012
What is the official name of the FGF3 gene?
The official name of this gene is “fibroblast growth factor 3.”
FGF3 is the gene's official symbol. The FGF3 gene is also known by other names, listed below.
What is the normal function of the FGF3 gene?
The FGF3 gene provides instructions for making a protein called fibroblast growth factor 3 (FGF3). This protein is part of a family of proteins called fibroblast growth factors that are involved in important processes such as cell division, regulation of cell growth and maturation, formation of blood vessels, wound healing, and development before birth. By attaching to another protein known as a receptor, FGF3 triggers a cascade of chemical reactions inside the cell that signal the cell to undergo certain changes, such as maturing to take on specialized functions. During development before birth, the signals triggered by the FGF3 protein stimulate cells to form the structures that make up the inner ears. The FGF3 protein is also involved in the development of many other organs and structures, including the outer ears and teeth.
How are changes in the FGF3 gene related to health conditions?
- congenital deafness with labyrinthine aplasia, microtia, and microdontia - caused by mutations in the FGF3 gene
Mutations in the FGF3 gene cause a condition known as congenital deafness with labyrinthine aplasia, microtia, and microdontia (also known as LAMM syndrome). The features of this condition include deafness caused by a lack of inner ear structures (labyrinthine aplasia), small outer ears (microtia), and small teeth (microdontia). The gene mutations involved in LAMM syndrome change single protein building blocks (amino acids) in the FGF3 protein or lead to an abnormally short protein. The altered protein likely has reduced or absent function, making it unable to stimulate signaling within cells. The loss of FGF3 function impairs development of the ears and teeth, which leads to the characteristic features of LAMM syndrome.
Where is the FGF3 gene located?
Cytogenetic Location: 11q13
Molecular Location on chromosome 11: base pairs 69,809,968 to 69,819,424
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/2248))
The FGF3 gene is located on the long (q) arm of chromosome 11 at position 13.
More precisely, the FGF3 gene is located from base pair 69,809,968 to base pair 69,819,424 on chromosome 11.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about FGF3?
You and your healthcare professional may find the following resources about FGF3 helpful.
Educational resources - Information pages
- FGF Signalling in Vertebrate Development (2010): Inner Ear (http://www.ncbi.nlm.nih.gov/books/NBK53153/)
- Madame Curie Bioscience Database (2000): Fibroblast Growth Factors (http://www.ncbi.nlm.nih.gov/books/NBK6330/)
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK100664)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for FGF3 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2248%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28%28FGF3%5BTIAB%5D%29%20OR%20%28fibroblast%20growth%20factor%203%5BTIAB%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/164950)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_FGF3.html)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=3681)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2248)
What other names do people use for the FGF3 gene or gene products?
- heparin-binding growth factor 3
- INT-2 proto-oncogene protein
- murine mammary tumor virus integration site 2, mouse
- oncogene INT2
- proto-oncogene Int-2
- V-INT2 murine mammary tumor virus integration site oncogene homolog
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding FGF3?
cell division ;
growth factor ;
You may find definitions for these and many other terms in the Genetics Home Reference
- OMIM: FIBROBLAST GROWTH FACTOR 3 (http://omim.org/entry/164950)
- Hatch EP, Noyes CA, Wang X, Wright TJ, Mansour SL. Fgf3 is required for dorsal patterning and morphogenesis of the inner ear epithelium. Development. 2007 Oct;134(20):3615-25. Epub 2007 Sep 12. (http://www.ncbi.nlm.nih.gov/pubmed/17855431?dopt=Abstract)
- Kettunen P, Laurikkala J, Itäranta P, Vainio S, Itoh N, Thesleff I. Associations of FGF-3 and FGF-10 with signaling networks regulating tooth morphogenesis. Dev Dyn. 2000 Nov;219(3):322-32. (http://www.ncbi.nlm.nih.gov/pubmed/11066089?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2248)
- Tekin M, Hişmi BO, Fitoz S, Ozdağ H, Cengiz FB, Sirmaci A, Aslan I, Inceoğlu B, Yüksel-Konuk EB, Yilmaz ST, 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. 2007 Feb;80(2):338-44. Epub 2006 Dec 27. (http://www.ncbi.nlm.nih.gov/pubmed/17236138?dopt=Abstract)
- Zelarayan LC, Vendrell V, Alvarez Y, Domínguez-Frutos E, Theil T, Alonso MT, Maconochie M, Schimmang T. Differential requirements for FGF3, FGF8 and FGF10 during inner ear development. Dev Biol. 2007 Aug 15;308(2):379-91. Epub 2007 Jun 2. (http://www.ncbi.nlm.nih.gov/pubmed/17601531?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.