Reviewed July 2014
What is the official name of the TNFRSF13B gene?
The official name of this gene is “tumor necrosis factor receptor superfamily, member 13B.”
TNFRSF13B is the gene's official symbol. The TNFRSF13B gene is also known by other names, listed below.
What is the normal function of the TNFRSF13B gene?
The TNFRSF13B gene provides instructions for making a protein called TACI. The TACI protein is found on the surface of immune system cells called B cells. These specialized white blood cells help protect the body against infection from foreign invaders such as bacteria and viruses. When B cells mature, they produce special proteins called antibodies (also known as immunoglobulins). Antibodies attach to specific foreign invaders, marking them for destruction. Through interactions with other proteins, TACI promotes cell signaling, plays a role in B cell survival and maturation, and is involved in the production of antibodies.
Does the TNFRSF13B gene share characteristics with other genes?
The TNFRSF13B gene belongs to a family of genes called CD (CD molecules). It also belongs to a family of genes called TNFRSF (tumor necrosis factor receptor superfamily).
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
How are changes in the TNFRSF13B gene related to health conditions?
- common variable immune deficiency - associated with the TNFRSF13B gene
More than 25 mutations in the TNFRSF13B gene have been associated with common variable immune deficiency (CVID). This condition impairs the immune system, resulting in recurrent infections; autoimmune disorders, which occur when the immune system malfunctions and attacks the body's tissues and organs; and an increased risk for certain cancers.
TNFRSF13B gene mutations cause CVID in some people but do not appear to cause immune problems in others. Most of the TNFRSF13B gene mutations associated with CVID change single protein building blocks (amino acids) in the TACI protein. The most common mutation seen in people with CVID replaces the amino acid cysteine with the amino acid arginine at position 104 in the TACI protein (written as Cys104Arg or C104R). This mutation impairs the ability of TACI to interact with other proteins, disrupting cell signaling and preventing normal B cell maturation and antibody production. A shortage (deficiency) of certain antibodies makes it difficult for people with this disorder to fight off infections. Abnormal and deficient immune responses over time likely contribute to the increased cancer risk. In individuals with TNFRSF13B gene mutations who do not have CVID, additional genetic or environmental factors are probably needed for the condition to occur.
Where is the TNFRSF13B gene located?
Cytogenetic Location: 17p11.2
Molecular Location on chromosome 17: base pairs 16,939,083 to 16,972,087
The TNFRSF13B gene is located on the short (p) arm of chromosome 17 at position 11.2.
More precisely, the TNFRSF13B gene is located from base pair 16,939,083 to base pair 16,972,087 on chromosome 17.
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 TNFRSF13B?
You and your healthcare professional may find the following resources about TNFRSF13B 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=%28TNFRSF13B%5BTIAB%5D%29%20OR%20%28TACI%5BTIAB%5D%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%20720%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/604907)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_TNFRSF13B.html)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=23495)
- HGNC Gene Family: CD molecules (http://www.genenames.org/genefamilies/CD)
- HGNC Gene Family: Tumor necrosis factor receptor superfamily (http://www.genenames.org/genefamilies/TNFRSF)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=18153)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/23495)
- TNFRSF13B Gene Mutation Database (http://structure.bmc.lu.se/idbase/TNFRSF13Bbase/index.php)
What other names do people use for the TNFRSF13B gene or gene products?
- transmembrane activator and CAML interactor
- tumor necrosis factor receptor 13B
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 TNFRSF13B?
amino acid ;
immune system ;
white blood cells
You may find definitions for these and many other terms in the Genetics Home Reference
- Martinez-Gallo M, Radigan L, Almejún MB, Martínez-Pomar N, Matamoros N, Cunningham-Rundles C. TACI mutations and impaired B-cell function in subjects with CVID and healthy heterozygotes. J Allergy Clin Immunol. 2013 Feb;131(2):468-76. doi: 10.1016/j.jaci.2012.10.029. Epub 2012 Dec 11. (http://www.ncbi.nlm.nih.gov/pubmed/23237420?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/23495)
- Pan-Hammarström Q, Salzer U, Du L, Björkander J, Cunningham-Rundles C, Nelson DL, Bacchelli C, Gaspar HB, Offer S, Behrens TW, Grimbacher B, Hammarström L. Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. Nat Genet. 2007 Apr;39(4):429-30. (http://www.ncbi.nlm.nih.gov/pubmed/17392797?dopt=Abstract)
- Poodt AE, Driessen GJ, de Klein A, van Dongen JJ, van der Burg M, de Vries E. TACI mutations and disease susceptibility in patients with common variable immunodeficiency. Clin Exp Immunol. 2009 Apr;156(1):35-9. doi: 10.1111/j.1365-2249.2008.03863.x. Epub 2008 Dec 11. (http://www.ncbi.nlm.nih.gov/pubmed/19210517?dopt=Abstract)
- Salzer U, Bacchelli C, Buckridge S, Pan-Hammarström Q, Jennings S, Lougaris V, Bergbreiter A, Hagena T, Birmelin J, Plebani A, Webster AD, Peter HH, Suez D, Chapel H, McLean-Tooke A, Spickett GP, Anover-Sombke S, Ochs HD, Urschel S, Belohradsky BH, Ugrinovic S, Kumararatne DS, Lawrence TC, Holm AM, Franco JL, Schulze I, Schneider P, Gertz EM, Schäffer AA, Hammarström L, Thrasher AJ, Gaspar HB, Grimbacher B. Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes. Blood. 2009 Feb 26;113(9):1967-76. doi: 10.1182/blood-2008-02-141937. Epub 2008 Nov 3. (http://www.ncbi.nlm.nih.gov/pubmed/18981294?dopt=Abstract)
- Sazzini M, Zuntini R, Farjadian S, Quinti I, Ricci G, Romeo G, Ferrari S, Calafell F, Luiselli D. An evolutionary approach to the medical implications of the tumor necrosis factor receptor superfamily member 13B (TNFRSF13B) gene. Genes Immun. 2009 Sep;10(6):566-78. doi: 10.1038/gene.2009.43. Epub 2009 Jun 4. (http://www.ncbi.nlm.nih.gov/pubmed/19494827?dopt=Abstract)
- OMIM: TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 13B (http://omim.org/entry/604907)
- Zhang L, Radigan L, Salzer U, Behrens TW, Grimbacher B, Diaz G, Bussel J, Cunningham-Rundles C. Transmembrane activator and calcium-modulating cyclophilin ligand interactor mutations in common variable immunodeficiency: clinical and immunologic outcomes in heterozygotes. J Allergy Clin Immunol. 2007 Nov;120(5):1178-85. (http://www.ncbi.nlm.nih.gov/pubmed/17983875?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.