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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.

Read more about gene names and symbols on the About page.

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? 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 148,982,150 to 149,063,174

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

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 148,982,150 to base pair 149,063,174 on chromosome 5.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about SH3TC2?

You and your healthcare professional may find the following resources about SH3TC2 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 SH3TC2 gene or gene products?

  • CMT4C
  • FLJ13605
  • KIAA1985

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

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.

See also Understanding Medical Terminology.

References (7 links)


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? in the Handbook.

Reviewed: January 2010
Published: February 1, 2016