TNFRSF13B

Reviewed March 2010

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 transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI). The TACI protein is found on the cell membrane of B cells. B cells are specialized white blood cells that help protect the body against infection. When B cells mature, they produce special proteins called antibodies (which are also known as immunoglobulins). These proteins attach to specific foreign particles and germs, marking them for destruction. Through interactions with other proteins, TACI promotes cell signaling and plays a role in B cell survival and maturation. TACI is also 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). Most of these mutations 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. It is not clear how mutations in the TNFRSF13B gene prevent normal B cell maturation and antibody production. Some people with TNFRSF13B gene mutations develop CVID, but others do not. A shortage (deficiency) of certain antibodies results in recurrent infections and other signs and symptoms of CVID.

Where is the TNFRSF13B gene located?

Cytogenetic Location: 17p11.2

Molecular Location on chromosome 17: base pairs 16,842,397 to 16,875,401

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 16,842,397 to base pair 16,875,401 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.

Educational resources - Information pages
Madame Curie Bioscience Collection: TACI, BCMA (http://www.ncbi.nlm.nih.gov/books/NBK6132/)
Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1299/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for TNFRSF13B (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23495%5Bgeneid%5D)

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=(TNFRSF13B%5BTIAB%5D)%20OR%20(TACI%5BTIAB%5D)%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%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)
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/23495)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=23495)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=18153)
- TNFRSF13B Gene Mutation Database (http://bioinf.uta.fi/TNFRSF13Bbase/)

What other names do people use for the TNFRSF13B gene or gene products?

CD267
TACI
TR13B_HUMAN
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?

acids ; amino acid ; antibody ; calcium ; cell ; cell membrane ; deficiency ; gene ; infection ; ligand ; mutation ; necrosis ; protein ; receptor ; transmembrane ; tumor ; white blood cells

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/23495)
OMIM: TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 13B (http://omim.org/entry/604907)
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)
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 healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.



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