Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
 
Home A service of the U.S. National Library of Medicine®
 
 
Printer-friendly version
SH3BP2

SH3BP2

Reviewed April 2007

What is the official name of the SH3BP2 gene?

The official name of this gene is “SH3-domain binding protein 2.”

SH3BP2 is the gene's official symbol. The SH3BP2 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the SH3BP2 gene?

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 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.

Does the SH3BP2 gene share characteristics with other genes?

The SH3BP2 gene belongs to a family of genes called SH2 domain containing (SH2 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? in the Handbook.

How are changes in the SH3BP2 gene related to health conditions?

cherubism - caused by mutations in the SH3BP2 gene

At least 11 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 overly active version of this protein. The effects of SH3BP2 mutations are still under study, but researchers believe that the abnormal protein alters critical signaling pathways in cells associated with the maintenance of bone tissue and in certain immune system cells. The overactive protein likely causes inflammation in the bones of the jaw and triggers the production of an increased number of osteoclasts. An excess of these bone-eating 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.

Where is the SH3BP2 gene located?

Cytogenetic Location: 4p16.3

Molecular Location on chromosome 4: base pairs 2,793,022 to 2,841,095

The SH3BP2 gene is located on the short (p) arm of chromosome 4 at position 16.3.

The SH3BP2 gene is located on the short (p) arm of chromosome 4 at position 16.3.

More precisely, the SH3BP2 gene is located from base pair 2,793,022 to base pair 2,841,095 on chromosome 4.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about SH3BP2?

You and your healthcare professional may find the following resources about SH3BP2 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 SH3BP2 gene or gene products?

  • 3BP2
  • 3BP-2
  • CRBM
  • CRPM
  • FLJ42079
  • 3BP2_HUMAN
  • RES4-23

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding SH3BP2?

amino acid ; bone loss ; bone remodeling ; breakdown ; critical region ; domain ; gene ; immune system ; inflammation ; necrosis ; protein ; tissue ; tumor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (11 links)

 

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? in the Handbook.

 
Reviewed: April 2007
Published: August 25, 2014