NR4A2

Below is a summary for the NR4A2 gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.

What is NR4A2-related syndrome?

NR4A2-related syndrome happens when there are changes to the NR4A2 gene. These changes can keep the gene from working as it should.

Key Role

NR4A2 plays a key role in the development of the brain. This gene is particularly important in brain cells that help control movement, emotion, and memory.

Symptoms

NR4A2-related syndrome can have moderate to severe effects on the development of communication skills, social skills, and learning skills. Because the NR4A2 gene is important in the development of the brain, many people who have NR4A2-related syndrome have:

Language impairment
Intellectual disability

Do people who have NR4A2-related syndrome look different?

People who have NR4A2-related syndrome generally do not look different.

Support Resources

Simons Searchlight Community – NR4A2 Facebook group

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 NR4A2.

Research Article Summaries

We currently do not have any article summaries for NR4A2, but we add resources to our website as they become available.

The information available about NR4A2 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 NR4A2 articles can be found here.

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

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about NR4A2 genetic changes by taking part in our research. You can learn more about the project and sign up here.

Family Stories

We do not currently have any stories from NR4A2 families.

Click here to share your family’s story!