TNFRSF13B gene

TNFRSF13B (TNF Receptor Superfamily Member 13B) is a protein coding gene. The protein encoded by this gene (the gene is located in the Smith-Magenis syndrome region on chromosome 17p11.2 ) (TACI) is a lymphocyte-specific member of the tumor necrosis factor (TNF) receptor superfamily. It interacts with calcium modulator and cyclophilin ligand (CAML). The protein induces activation of the transcription factors NFAT, AP1 and NF-kappa-B and plays a critical role in humoral immunity through interaction with TNF ligands.

Diseases associated with TNFRSF13B include:

Immunodeficiency, Common Variable 2

and

Immunoglobulin A deficiency 2 (Karaca NE et al. 2018; Speletas M et al. 2011).

1. Freiberger T et al. (2012) Sequence variants of the TNFRSF13B gene in Czech CVID and IgAD patients in the context of other populations. Hum Immunol 73:1147-1154.
2. Karaca NE et al. (2018) TNFRSF13B/TACI alterations in Turkish patients with common variable immunodeficiency and IgA deficiency. Avicenna J Med Biotechnol10:192-195.
3. Schäffer AA et al. (2006) Analysis of families with common variable immunodeficiency (CVID) and IgA deficiency suggests linkage of CVID to chromosome 16q. Hum Genet 118:725-729.
4. Speletas M et al (2011) TNFRSF13B/TACI alterations in Greek patients with antibody deficiencies. J Clin Immunol 31:550-559.
5. Zhang Y et al (2015) Effect of TACI signaling on humoral immunity and autoimmune diseases. J Immunol Res 2015:247426.