SHANK2

Below is a summary for the SHANK2 gene observed in research publications. This is not meant to take the place of medical advice.

Click here for our full SHANK2 Gene Guide

The online Gene Guide includes more information about SHANK2 such as the chance of having another child with this condition, behavior and development concerns linked to SHANK2-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

What is SHANK2-related syndrome?

SHANK2-related syndrome happens when there are changes to the SHANK2 gene. These changes can keep the gene from working as it should.

Key Role

The SHANK2 gene plays a key role in communication between brain cells. SHANK2 is closely related to SHANK3, another well-known autism risk gene. There are hundreds of autism risk genes and none of them account for a large number of cases. But SHANK3 is one of the more common autism risk genes, with some studies estimating that up to 1% of people who have autism have changes in SHANK3.

Symptoms

Because the SHANK2 gene is important in the development and function of brain cells, many people who have SHANK2-related syndrome have:

  • Intellectual disability
  • Autism

How many people have SHANK2-related syndrome?

As of 2020, doctors had described about 10 people in the world with changes in the SHANK2 gene. The first case of SHANK2-related syndrome was described in 2010. Scientists expect to find more people who have the syndrome as access to genetic testing improves.

Learn more about the SHANK2 gene and connect with other Simons Searchlight families with the resources below:

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Support Resources

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GeneReviews

GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.

There is currently no GeneReviews for SHANK2.

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Research Article Summaries

We currently do not have any article summaries for SHANK2, but we add resources to our website as they become available.

The information available about SHANK2 is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.

Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for SHANK2 articles can be found here.

You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about SHANK2 genetic changes by taking part in our research. You can learn more about the project and sign up here.

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Family Stories

We do not currently have any stories from SHANK2 families.

Click here to share your family’s story!