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Genetics Home Reference: your guide to understanding genetic conditions
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SH3TC2

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.

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 148,361,712 to 148,442,736

The SH3TC2 gene is located on the long (q) arm of chromosome 5 at position 32.

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 148,361,712 to base pair 148,442,736 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/bookshelf/br.fcgi?book=gene&part=cmt4c)

  • 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=((SH3TC2%5BTIAB%5D)%20OR%20(SH3/TPR))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%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

    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/79628)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=79628)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=29427)
    • Inherited Peripheral Neuropathies Mutation Database (http://www.molgen.ua.ac.be/CMTMutations/Mutations/Mutations.cfm?Context=29)

What other names do people use for the SH3TC2 gene or gene products?

  • CMT4C
  • CMTND
  • FLJ13605
  • KIAA1985
  • S3TC2_HUMAN

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?

acids ; domain ; gene ; nervous system ; peripheral ; peripheral nerves ; protein ; sensory cells

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

References

  • 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)
  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/79628)
  • 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)
  • OMIM: SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2 (http://omim.org/entry/608206)
  • 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)
  • 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 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: January 2010
Published: May 13, 2013