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Genetics Home Reference: your guide to understanding genetic conditions
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FGFR4

Reviewed June 2005

What is the official name of the FGFR4 gene?

The official name of this gene is “fibroblast growth factor receptor 4.”

FGFR4 is the gene's official symbol. The FGFR4 gene is also known by other names, listed below.

What is the normal function of the FGFR4 gene?

The FGFR4 gene provides instructions for making a protein called fibroblast growth factor receptor 4. This protein is part of a family of fibroblast growth factor receptors that share similar structures and functions. These receptor proteins play a role in important processes such as cell division, regulating cell growth and maturation, formation of blood vessels, wound healing, and embryo development.

The FGFR4 protein interacts with specific growth factors to conduct signals from the environment outside the cell to the nucleus. The nucleus responds to these signals by switching on or off appropriate genes that help the cell adjust to changes in the environment. In response, the cell might divide, move, or mature to take on specialized functions. Although specific functions of FGFR4 remain unclear, studies indicate that the gene is involved in muscle development and the maturation of bone cells in the skull. The FGFR4 gene may also play a role in the development and maintenance of specialized cells (called foveal cones) in the light-sensitive layer (the retina) at the back of the eye.

Does the FGFR4 gene share characteristics with other genes?

The FGFR4 gene belongs to a family of genes called CD (CD molecules). It also belongs to a family of genes called immunoglobulin superfamily, I-set domain containing (immunoglobulin superfamily, I-set domain containing).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the FGFR4 gene related to health conditions?

cancers - associated with the FGFR4 gene

A variation (polymorphism) in the FGFR4 gene that causes a switch in amino acids (the building blocks of proteins) is associated with several types of cancer, such as those that occur in the breast, colon, head and neck, and prostate. In people with this polymorphism, glycine is replaced by arginine at position 388 in the protein's chain of amino acids. This variation is common and appears to occur in about 50 percent of humans. Although it produces no ill effects in healthy people, the mutation is associated with accelerated disease progression in certain cancers.

The abnormal activation and increased activity of the FGFR4 gene are also implicated in the development of pituitary tumors and gastric, pancreatic, and ovarian cancers.

Where is the FGFR4 gene located?

Cytogenetic Location: 5q35.2

Molecular Location on chromosome 5: base pairs 177,086,904 to 177,098,125

The FGFR4 gene is located on the long (q) arm of chromosome 5 at position 35.2.

The FGFR4 gene is located on the long (q) arm of chromosome 5 at position 35.2.

More precisely, the FGFR4 gene is located from base pair 177,086,904 to base pair 177,098,125 on chromosome 5.

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 FGFR4?

You and your healthcare professional may find the following resources about FGFR4 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the FGFR4 gene or gene products?

  • CD334
  • FGR4_HUMAN
  • hydroxyaryl-protein kinase
  • JTK2 Gene
  • protein-tyrosine kinase
  • TKF Gene
  • tyrosylprotein kinase

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 FGFR4?

acids ; arginine ; cancer ; cell ; cell division ; colon ; cones ; embryo ; fibroblast ; gastric ; gene ; glycine ; growth factor ; kinase ; metastasis ; mutation ; nucleus ; ovarian ; pancreatic ; polymorphism ; progression ; prostate ; protein ; receptor ; retina ; tyrosine

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Bange J, Prechtl D, Cheburkin Y, Specht K, Harbeck N, Schmitt M, Knyazeva T, Müller S, Gärtner S, Sures I, Wang H, Imyanitov E, Häring HU, Knayzev P, Iacobelli S, Höfler H, Ullrich A. Cancer progression and tumor cell motility are associated with the FGFR4 Arg(388) allele. Cancer Res. 2002 Feb 1;62(3):840-7. (http://www.ncbi.nlm.nih.gov/pubmed/11830541?dopt=Abstract)
  • Cornish EE, Natoli RC, Hendrickson A, Provis JM. Differential distribution of fibroblast growth factor receptors (FGFRs) on foveal cones: FGFR-4 is an early marker of cone photoreceptors. Mol Vis. 2004 Jan 8;10:1-14. (http://www.ncbi.nlm.nih.gov/pubmed/14737068?dopt=Abstract)
  • Eswarakumar VP, Lax I, Schlessinger J. Cellular signaling by fibroblast growth factor receptors. Cytokine Growth Factor Rev. 2005 Apr;16(2):139-49. Epub 2005 Feb 1. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15863030?dopt=Abstract)
  • Marics I, Padilla F, Guillemot JF, Scaal M, Marcelle C. FGFR4 signaling is a necessary step in limb muscle differentiation. Development. 2002 Oct;129(19):4559-69. (http://www.ncbi.nlm.nih.gov/pubmed/12223412?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2264)
  • Streit S, Bange J, Fichtner A, Ihrler S, Issing W, Ullrich A. Involvement of the FGFR4 Arg388 allele in head and neck squamous cell carcinoma. Int J Cancer. 2004 Aug 20;111(2):213-7. (http://www.ncbi.nlm.nih.gov/pubmed/15197773?dopt=Abstract)
  • Wang J, Stockton DW, Ittmann M. The fibroblast growth factor receptor-4 Arg388 allele is associated with prostate cancer initiation and progression. Clin Cancer Res. 2004 Sep 15;10(18 Pt 1):6169-78. (http://www.ncbi.nlm.nih.gov/pubmed/15448004?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 healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: June 2005
Published: October 27, 2014