Reviewed January 2010
What is the official name of the SBF2 gene?
The official name of this gene is “SET binding factor 2.”
SBF2 is the gene's official symbol. The SBF2 gene is also known by other names, listed below.
What is the normal function of the SBF2 gene?
The SBF2 gene (also called MTMR13) provides instructions for making a protein called SET binding factor 2. The function of this protein is unknown, but it is probably involved in the development of specialized cells in the nervous system called Schwann cells. Schwann cells produce myelin, the protective substance that covers nerve cells and promotes the rapid transmission of nerve impulses. SET binding factor 2 probably also plays a role in the development of mesh-like canals (trabecular meshwork) that surround the colored part of the eye (the iris). The trabecular meshwork helps drain excess fluid from the eye.
Does the SBF2 gene share characteristics with other genes?
The SBF2 gene belongs to a family of genes called PTP (protein tyrosine phosphatases).
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 SBF2 gene related to health conditions?
- Charcot-Marie-Tooth disease - caused by mutations in the SBF2 gene
At least five SBF2 gene mutations have been identified in patients with a form of Charcot-Marie-Tooth disease known as type 4B2. Some of these mutations alter the structure of SET binding factor 2 by introducing a premature stop signal that results in an abnormally short protein. Other mutations lead to the production of a protein that is missing a critical segment. All of these mutations probably result in a nonfunctional protein. Although it is unclear how SBF2 gene mutations lead to this disorder, myelin production is probably disrupted. Irregular myelin structure (called outfolding) is a characteristic sign of type 4B2 Charcot-Marie-Tooth disease.
Individuals with this disorder may also experience a buildup of fluid pressure within the eye (glaucoma) beginning in childhood or adolescence. Researchers believe that the appearance of glaucoma depends on the type of SBF2 gene mutation. A mutation that causes complete loss of protein function interferes with the development of the eye's trabecular meshwork, leading to impaired fluid drainage and glaucoma. Less severe mutations, which allow partial function of the SET binding factor 2 protein, do not cause glaucoma.
Where is the SBF2 gene located?
Cytogenetic Location: 11p15.4
Molecular Location on chromosome 11: base pairs 9,778,667 to 10,294,207
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/81846))
The SBF2 gene is located on the short (p) arm of chromosome 11 at position 15.4.
More precisely, the SBF2 gene is located from base pair 9,778,667 to base pair 10,294,207 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 SBF2?
You and your healthcare professional may find the following resources about SBF2 helpful.
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=%28CMT4B2%5BTIAB%5D%29%20OR%20%28%28MTMR13%5BTIAB%5D%29%20OR%20%28SBF2%5BTIAB%5D%29%20OR%20%28SET%20binding%20factor%202%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%203600%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/607697)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_SBF2.html)
- HGNC Gene Family: DENN/MADD domain containing (http://www.genenames.org/cgi-bin/genefamilies/set/504)
- HGNC Gene Family: Myotubularins (http://www.genenames.org/cgi-bin/genefamilies/set/903)
- HGNC Gene Family: Pleckstrin homology domain containing (http://www.genenames.org/cgi-bin/genefamilies/set/682)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=2135)
- Inherited Peripheral Neuropathies Mutation Database (http://www.molgen.ua.ac.be/CMTMutations/Mutations/Mutations.cfm?Context=24)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/81846)
What other names do people use for the SBF2 gene or gene products?
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 SBF2?
nervous system ;
Schwann cells ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Azzedine H, Bolino A, Taïeb T, Birouk N, Di Duca M, Bouhouche A, Benamou S, Mrabet A, Hammadouche T, Chkili T, Gouider R, Ravazzolo R, Brice A, Laporte J, LeGuern E. Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. Am J Hum Genet. 2003 May;72(5):1141-53. Epub 2003 Apr 8. (http://www.ncbi.nlm.nih.gov/pubmed/12687498?dopt=Abstract)
- Conforti FL, Muglia M, Mazzei R, Patitucci A, Valentino P, Magariello A, Sprovieri T, Bono F, Bergmann C, Gabriele AL, Peluso G, Nisticò R, Senderek J, Quattrone A. A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2). Neurology. 2004 Oct 12;63(7):1327-8. (http://www.ncbi.nlm.nih.gov/pubmed/15477569?dopt=Abstract)
- Dubourg O, Azzedine H, Verny C, Durosier G, Birouk N, Gouider R, Salih M, Bouhouche A, Thiam A, Grid D, Mayer M, Ruberg M, Tazir M, Brice A, LeGuern E. Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease. Neuromolecular Med. 2006;8(1-2):75-86. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16775368?dopt=Abstract)
- Gene Review: Charcot-Marie-Tooth Neuropathy Type 4 (http://www.ncbi.nlm.nih.gov/books/NBK1468)
- Hirano R, Takashima H, Umehara F, Arimura H, Michizono K, Okamoto Y, Nakagawa M, Boerkoel CF, Lupski JR, Osame M, Arimura K. SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma. Neurology. 2004 Aug 10;63(3):577-80. (http://www.ncbi.nlm.nih.gov/pubmed/15304601?dopt=Abstract)
- Kabzinska D, Hausmanowa-Petrusewicz I, Kochanski A. Charcot-Marie-Tooth disorders with an autosomal recessive mode of inheritance. Clin Neuropathol. 2008 Jan-Feb;27(1):1-12. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18257469?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/81846)
- Senderek J, Bergmann C, Weber S, Ketelsen UP, Schorle H, Rudnik-Schöneborn S, Büttner R, Buchheim E, Zerres K. Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. Hum Mol Genet. 2003 Feb 1;12(3):349-56. Erratum in: Hum Mol Genet. 2004 Feb 1;13(3):363. (http://www.ncbi.nlm.nih.gov/pubmed/12554688?dopt=Abstract)
- Young P, Suter U. The causes of Charcot-Marie-Tooth disease. Cell Mol Life Sci. 2003 Dec;60(12):2547-60. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14685682?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.