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SH3BP2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SH3BP2 gene

The SH3BP2 gene provides instructions for making a protein involved in immune cell signaling and bone remodeling, with mutations linked to the condition known as cherubism.

Normal Function

The SH3BP2 gene provides instructions for making a protein whose exact function is unclear, although it is known to interact with other proteins within cells. The SH3BP2 protein plays a role in transmitting chemical signals, particularly in certain immune system cells and cells involved in the replacement of old bone tissue with new bone (bone remodeling).

Studies suggest that the SH3BP2 protein helps regulate signaling pathways that turn on (activate) immune system cells called B cells and macrophages. The protein is also involved in the production of osteoclasts, which are specialized cells that break down bone tissue when it is no longer needed. Osteoclasts play a central role in bone remodeling.

Health Conditions Related to Genetic Changes

Cherubism

At least 15 mutations in the SH3BP2 gene have been identified in people with cherubism. Each of these mutations changes a single protein building block (amino acid) in a critical region of the SH3BP2 protein. These genetic changes lead to the production of an abnormal protein that does not get broken down when it is no longer needed.

Too much SH3BP2 protein likely increases signaling in certain cells, causing an immune reaction (inflammation) in the bones of the jaw and also triggering the production of an increased number of osteoclasts. An excess of these bone-destroying cells contributes to the abnormal breakdown of bone tissue in the upper and lower jaws. A combination of bone loss and inflammation likely underlies the cyst-like growths characteristic of cherubism.

Other Names for This Gene

  • 3BP-2
  • 3BP2
  • 3BP2_HUMAN
  • CRBM
  • CRPM
  • FLJ42079
  • RES4-23
  • SH3-domain binding protein 2

Frequently Asked Questions

Cherubism is an autosomal dominant condition, meaning only one copy of the mutated SH3BP2 gene is needed to cause the disorder. If one parent has cherubism, there is a 50 percent chance that each child will inherit the mutation. However, the condition can also arise from a new (de novo) mutation, which occurs in about 20 to 30 percent of cases, meaning the parents may not have the condition or the mutation.
Cherubism is a genetic condition where mutations in the SH3BP2 gene cause the protein to accumulate rather than being broken down. This excess protein overactivates signaling pathways in immune cells and osteoclasts, leading to specific, often bilateral, cyst-like growths in the jaw bones. Unlike osteoporosis or periodontal disease, which involve general bone density loss or gum infection, cherubism is driven by a specific inflammatory and bone-remodeling imbalance that typically begins in childhood and may stabilize or regress in adulthood.
The bony growths in the jaw can displace teeth, cause tooth loss, or prevent normal tooth eruption, which often requires multidisciplinary care involving orthodontists and oral surgeons. Treatment may include monitoring for spontaneous regression, which often occurs after puberty, or surgical removal of the cysts if they cause significant functional issues, such as difficulty chewing or speaking. Regular dental checkups are essential to manage secondary complications like tooth decay or gum disease that can arise from misaligned teeth.
While the condition is often diagnosed based on clinical features and family history, genetic testing can confirm the diagnosis by identifying specific mutations in the SH3BP2 gene. This is particularly useful in cases where the family history is unclear or to provide accurate genetic counseling for future family planning. A genetic counselor can help interpret the results and discuss the implications for the patient and their relatives.
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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