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SHANK3 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SHANK3 gene

The SHANK3 gene is essential for proper brain function, acting as a scaffold for connections between neurons, and is associated with Phelan-McDermid syndrome and autism spectrum disorder.

Normal Function

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 supports the connections between 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.

Health Conditions Related to Genetic Changes

22q13.3 deletion syndrome

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.

Autism spectrum disorder

At least 43 SHANK3 gene mutations have been found in people who have autism spectrum disorder (ASD), which is a varied condition characterized by impaired communication and socialization skills, as well as repetitive behaviors. Most of these mutations disrupt the function of the SHANK3 protein or prevent the protein from being produced. It is unclear how changes in the SHANK3 gene are related to the risk of developing ASD. Researchers suspect that a disruption in communication between neurons contributes to the development of this condition.

Other Names for This Gene

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

Frequently Asked Questions

deletion of the SHANK3 gene, often part of the 22q13.3 deletion syndrome, typically results in a complete loss of function of the protein, which is associated with more severe developmental delays, speech impairments, and behavioral issues. In contrast, a point mutation (a change in a single DNA letter) may result in a partially functional protein, which can lead to a milder phenotype, such as autism spectrum disorder or intellectual disability, but with potentially better cognitive outcomes. The specific location and type of genetic change significantly influence the clinical presentation.
Many individuals with SHANK3-related conditions, including those with 22q13.3 deletion syndrome, can learn to speak, though the degree of speech development varies widely. Early and intensive speech and language therapy is crucial for maximizing communication skills. Augmentative and alternative communication (AAC) devices, such as picture boards or speech-generating devices, are often used alongside traditional therapy to support expression. Consistent, structured interventions tailored to the individual's specific needs yield the best outcomes.
Early signs often include hypotonia (low muscle tone), which can make babies appear floppy and may delay motor milestones like sitting or walking. Feeding difficulties, such as poor suck or reflux, are also common. While speech delay is a hallmark, it may not be apparent until the child is older, as nonverbal communication skills might develop at a different pace. Parents should consult a pediatrician if they notice significant delays in reaching standard developmental milestones.
There is currently no cure for SHANK3-related disorders, but research is actively focused on developing therapies that can restore synaptic function. Strategies under investigation include gene therapy to replace the missing or faulty gene, small molecules that can enhance the function of the remaining SHANK3 protein, and approaches to modulate downstream signaling pathways. Clinical trials are ongoing, and participation in research studies may provide access to emerging treatments and contribute to the understanding of the condition.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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