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.
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.
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 2,794,749 to 2,842,822
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 2,794,749 to base pair 2,842,822 on chromosome 4.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) 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.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((SH3BP2%5BTIAB%5D)%20OR%20(SH3-domain%20binding%20protein%202%5BTIAB%5D))%20OR%20(3BP2%5BTIAB%5D)%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/602104)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_SH3BP2.html)
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/6452)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=6452)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=10825)
What other names do people use for the SH3BP2 gene or gene products?
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding SH3BP2?
amino acid ;
bone loss ;
bone remodeling ;
critical region ;
immune system ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Chen G, Dimitriou ID, La Rose J, Ilangumaran S, Yeh WC, Doody G, Turner M, Gommerman J, Rottapel R. The 3BP2 adapter protein is required for optimal B-cell activation and thymus-independent type 2 humoral response. Mol Cell Biol. 2007 Apr;27(8):3109-22. Epub 2007 Feb 5. (http://www.ncbi.nlm.nih.gov/pubmed/17283041?dopt=Abstract)
- de la Fuente MA, Kumar L, Lu B, Geha RS. 3BP2 deficiency impairs the response of B cells, but not T cells, to antigen receptor ligation. Mol Cell Biol. 2006 Jul;26(14):5214-25. (http://www.ncbi.nlm.nih.gov/pubmed/16809760?dopt=Abstract)
- de Lange J, van Maarle MC, van den Akker HP, Redeker EJ. A new mutation in the SH3BP2 gene showing reduced penetrance in a family affected with cherubism. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007 Mar;103(3):378-81. Epub 2006 Sep 26. (http://www.ncbi.nlm.nih.gov/pubmed/17321449?dopt=Abstract)
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/6452)
- Gene Review: Cherubism (http://www.ncbi.nlm.nih.gov/books/NBK1137/)
- Li CY, Yu SF. A novel mutation in the SH3BP2 gene causes cherubism: case report. BMC Med Genet. 2006 Dec 5;7:84. (http://www.ncbi.nlm.nih.gov/pubmed/17147794?dopt=Abstract)
- Lietman SA, Kalinchinko N, Deng X, Kohanski R, Levine MA. Identification of a novel mutation of SH3BP2 in cherubism and demonstration that SH3BP2 mutations lead to increased NFAT activation. Hum Mutat. 2006 Jul;27(7):717-8. (http://www.ncbi.nlm.nih.gov/pubmed/16786512?dopt=Abstract)
- Lo B, Faiyaz-Ul-Haque M, Kennedy S, Aviv R, Tsui LC, Teebi AS. Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism. Am J Med Genet A. 2003 Aug 15;121A(1):37-40. (http://www.ncbi.nlm.nih.gov/pubmed/12900899?dopt=Abstract)
- Novack DV, Faccio R. Jawing about TNF: new hope for cherubism. Cell. 2007 Jan 12;128(1):15-7. (http://www.ncbi.nlm.nih.gov/pubmed/17218248?dopt=Abstract)
- Ueki Y, Lin CY, Senoo M, Ebihara T, Agata N, Onji M, Saheki Y, Kawai T, Mukherjee PM, Reichenberger E, Olsen BR. Increased myeloid cell responses to M-CSF and RANKL cause bone loss and inflammation in SH3BP2 "cherubism" mice. Cell. 2007 Jan 12;128(1):71-83. (http://www.ncbi.nlm.nih.gov/pubmed/17218256?dopt=Abstract)
- Ueki Y, Tiziani V, Santanna C, Fukai N, Maulik C, Garfinkle J, Ninomiya C, doAmaral C, Peters H, Habal M, Rhee-Morris L, Doss JB, Kreiborg S, Olsen BR, Reichenberger E. Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. Nat Genet. 2001 Jun;28(2):125-6. (http://www.ncbi.nlm.nih.gov/pubmed/11381256?dopt=Abstract)
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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.