Reviewed January 2010
What is the official name of the SH3TC2 gene?
The official name of this gene is “SH3 domain and tetratricopeptide repeats 2.”
SH3TC2 is the gene's official symbol. The SH3TC2 gene is also known by other names, listed below.
What is the normal function of the SH3TC2 gene?
The SH3TC2 gene is active in the nervous system and provides instructions for making a protein whose function is unknown. Based on its structure, the SH3TC2 protein probably interacts with other proteins and may assist in assembling proteins into a group or complex.
Does the SH3TC2 gene share characteristics with other genes?
The SH3TC2 gene belongs to a family of genes called TTC (tetratricopeptide (TTC) repeat 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 SH3TC2 gene related to health conditions?
- Charcot-Marie-Tooth disease - caused by mutations in the SH3TC2 gene
Researchers have identified at least 19 SH3TC2 gene mutations that cause a form of Charcot-Marie-Tooth disease known as type 4C. Charcot-Marie-Tooth disease is a group of progressive disorders that affect the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound.
Most of the SH3TC2 gene mutations that cause Charcot-Marie-Tooth disease disrupt production of the SH3TC2 protein, resulting in an abnormally short or unstable version of this protein. Some mutations change one of the building blocks (amino acids) used to make the SH3TC2 protein, which alters the protein's structure. It is unclear how SH3TC2 gene mutations cause the signs and symptoms of type 4C Charcot-Marie-Tooth disease.
Where is the SH3TC2 gene located?
Cytogenetic Location: 5q32
Molecular Location on chromosome 5: base pairs 148,982,149 to 149,063,173
The SH3TC2 gene is located on the long (q) arm of chromosome 5 at position 32.
More precisely, the SH3TC2 gene is located from base pair 148,982,149 to base pair 149,063,173 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 SH3TC2?
You and your healthcare professional may find the following resources about SH3TC2 helpful.
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1340)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for SH3TC2 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79628%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%28SH3TC2%5BTIAB%5D%29%20OR%20%28SH3/TPR%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/608206)
Research Resources - Tools for researchers
- HGNC Gene Family: Tetratricopeptide (TTC) repeat domain containing (http://www.genenames.org/genefamilies/TTC)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=29427)
- Inherited Peripheral Neuropathies Mutation Database (http://www.molgen.ua.ac.be/CMTMutations/Mutations/Mutations.cfm?Context=29)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/79628)
What other names do people use for the SH3TC2 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 SH3TC2?
nervous system ;
peripheral nerves ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Azzedine H, Ravisé N, Verny C, Gabrëels-Festen A, Lammens M, Grid D, Vallat JM, Durosier G, Senderek J, Nouioua S, Hamadouche T, Bouhouche A, Guilbot A, Stendel C, Ruberg M, Brice A, Birouk N, Dubourg O, Tazir M, LeGuern E. Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations. Neurology. 2006 Aug 22;67(4):602-6. (http://www.ncbi.nlm.nih.gov/pubmed/16924012?dopt=Abstract)
- Colomer J, Gooding R, Angelicheva D, King RH, Guillén-Navarro E, Parman Y, Nascimento A, Conill J, Kalaydjieva L. Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2. Neuromuscul Disord. 2006 Jul;16(7):449-53. Epub 2006 Jun 27. (http://www.ncbi.nlm.nih.gov/pubmed/16806930?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/79628)
- Senderek J, Bergmann C, Stendel C, Kirfel J, Verpoorten N, De Jonghe P, Timmerman V, Chrast R, Verheijen MH, Lemke G, Battaloglu E, Parman Y, Erdem S, Tan E, Topaloglu H, Hahn A, Müller-Felber W, Rizzuto N, Fabrizi GM, Stuhrmann M, Rudnik-Schöneborn S, Züchner S, Michael Schröder J, Buchheim E, Straub V, Klepper J, Huehne K, Rautenstrauss B, Büttner R, Nelis E, Zerres K. Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. Am J Hum Genet. 2003 Nov;73(5):1106-19. Epub 2003 Oct 21. (http://www.ncbi.nlm.nih.gov/pubmed/14574644?dopt=Abstract)
- OMIM: SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2 (http://omim.org/entry/608206)
- Vallat JM, Tazir M, Magdelaine C, Sturtz F, Grid D. Autosomal-recessive Charcot-Marie-Tooth diseases. J Neuropathol Exp Neurol. 2005 May;64(5):363-70. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15892292?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.