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Genetics Home Reference: your guide to understanding genetic conditions
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SHANK3

Reviewed September 2009

What is the official name of the SHANK3 gene?

The official name of this gene is “SH3 and multiple ankyrin repeat domains 3.”

SHANK3 is the gene's official symbol. The SHANK3 gene is also known by other names, listed below.

What is the normal function of the SHANK3 gene?

The SHANK3 gene provides instructions for making a protein that is found in many of the body's tissues but is most abundant in the brain. The SHANK3 protein plays a role in the functioning of synapses, which are the connections between nerve cells (neurons) where cell-to-cell communication occurs. Within synapses, the SHANK3 protein acts as a scaffold that connects neurons, ensuring that the signals sent by one neuron are received by another.

The SHANK3 protein is also involved in the formation and maturation of dendritic spines. Dendrites are specialized extensions from neurons that are essential for the transmission of nerve impulses. Dendritic spines are small outgrowths from dendrites that further help transmit nerve impulses and increase communication between neurons.

Does the SHANK3 gene share characteristics with other genes?

The SHANK3 gene belongs to a family of genes called ANKRD (ankyrin 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 SHANK3 gene related to health conditions?

22q13.3 deletion syndrome - associated with the SHANK3 gene

The characteristic signs and symptoms of 22q13.3 deletion syndrome, which is also commonly known as Phelan-McDermid syndrome, are caused by a deletion near the end of the long (q) arm of chromosome 22. The chromosomal region that is typically deleted is thought to contain many genes, including the SHANK3 gene. As a result of the deletion, people with this condition have only one copy of the SHANK3 gene in each cell instead of the usual two copies.

Researchers believe that a deletion of the SHANK3 gene and a reduction in the amount of SHANK3 protein produced is responsible for many of the features of 22q13.3 deletion syndrome. A decrease in the functioning of synapses and cell-to-cell communication between neurons caused by a lack of SHANK3 protein is thought to contribute to the developmental delay, intellectual disability, and absent or severely delayed speech characteristic of people with 22q13.3 deletion syndrome.

other disorders - associated with the SHANK3 gene

At least seven SHANK3 gene mutations have been found in people who have the features of autism or similar conditions known as autism spectrum disorders. These disorders are characterized by impaired communication and socialization skills, as well as delayed development of speech and language. Most of these mutations disrupt the function of the SHANK3 protein or lead to the production of an abnormally short version of the protein. It is unclear how changes in the SHANK3 gene are related to the risk of developing autism. Researchers suspect that a disruption in nerve cell communication contributes to the development of autism.

Where is the SHANK3 gene located?

Cytogenetic Location: 22q13.3

Molecular Location on chromosome 22: base pairs 50,674,641 to 50,733,211

The SHANK3 gene is located on the long (q) arm of chromosome 22 at position 13.3.

The SHANK3 gene is located on the long (q) arm of chromosome 22 at position 13.3.

More precisely, the SHANK3 gene is located from base pair 50,674,641 to base pair 50,733,211 on chromosome 22.

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 SHANK3?

You and your healthcare professional may find the following resources about SHANK3 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 SHANK3 gene or gene products?

  • proline-rich synapse-associated protein 2
  • ProSAP2
  • SPANK-2

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 SHANK3?

autism ; cell ; chromosome ; deletion ; developmental delay ; disability ; gene ; nerve cell ; neuron ; proline ; protein ; spectrum ; synapse ; syndrome

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

References

  • Boeckers TM, Bockmann J, Kreutz MR, Gundelfinger ED. ProSAP/Shank proteins - a family of higher order organizing molecules of the postsynaptic density with an emerging role in human neurological disease. J Neurochem. 2002 Jun;81(5):903-10. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12065602?dopt=Abstract)
  • Bonaglia MC, Giorda R, Mani E, Aceti G, Anderlid BM, Baroncini A, Pramparo T, Zuffardi O. Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. J Med Genet. 2006 Oct;43(10):822-8. Epub 2005 Nov 11. (http://www.ncbi.nlm.nih.gov/pubmed/16284256?dopt=Abstract)
  • Durand CM, Betancur C, Boeckers TM, Bockmann J, Chaste P, Fauchereau F, Nygren G, Rastam M, Gillberg IC, Anckarsäter H, Sponheim E, Goubran-Botros H, Delorme R, Chabane N, Mouren-Simeoni MC, de Mas P, Bieth E, Rogé B, Héron D, Burglen L, Gillberg C, Leboyer M, Bourgeron T. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet. 2007 Jan;39(1):25-7. Epub 2006 Dec 17. (http://www.ncbi.nlm.nih.gov/pubmed/17173049?dopt=Abstract)
  • Gauthier J, Spiegelman D, Piton A, Lafrenière RG, Laurent S, St-Onge J, Lapointe L, Hamdan FF, Cossette P, Mottron L, Fombonne E, Joober R, Marineau C, Drapeau P, Rouleau GA. Novel de novo SHANK3 mutation in autistic patients. Am J Med Genet B Neuropsychiatr Genet. 2009 Apr 5;150B(3):421-4. doi: 10.1002/ajmg.b.30822. (http://www.ncbi.nlm.nih.gov/pubmed/18615476?dopt=Abstract)
  • Moessner R, Marshall CR, Sutcliffe JS, Skaug J, Pinto D, Vincent J, Zwaigenbaum L, Fernandez B, Roberts W, Szatmari P, Scherer SW. Contribution of SHANK3 mutations to autism spectrum disorder. Am J Hum Genet. 2007 Dec;81(6):1289-97. Epub 2007 Oct 16. (http://www.ncbi.nlm.nih.gov/pubmed/17999366?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/85358)
  • OMIM: SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS 3 (http://omim.org/entry/606230)
  • Wilson HL, Wong AC, Shaw SR, Tse WY, Stapleton GA, Phelan MC, Hu S, Marshall J, McDermid HE. Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms. J Med Genet. 2003 Aug;40(8):575-84. (http://www.ncbi.nlm.nih.gov/pubmed/12920066?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: September 2009
Published: October 20, 2014