|TR13B_HUMAN » Tumor necrosis factor receptor superfamily member 13B » Transmembrane activator and CAML interactor;|
|Hydrophobic Thickness||34.4 ± 2.6 Å|
|Tilt Angle||28 ± 0°|
|Links||UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC|
|TM Segments||162-189 (157-189)|
Primary immunodeficiency (KEGG)
|PDB||1xut (68-109), 1xu1 (R/S/T=68-109)|
|UniProt annotation for TR13B_HUMAN » Tumor necrosis factor receptor superfamily member 13B|
|FUNCTION: Receptor for TNFSF13/APRIL and TNFSF13B/TALL1/BAFF/BLYS that binds both ligands with similar high affinity. Mediates calcineurin-dependent activation of NF-AT, as well as activation of NF-kappa-B and AP-1. Involved in the stimulation of B- and T- cell function and the regulation of humoral immunity. SUBUNIT: Binds TRAF2, TRAF5 and TRAF6. Binds the NH2-terminal domain of CAMLG with its C-terminus. TISSUE SPECIFICITY: Highly expressed in spleen, thymus, small intestine and peripheral blood leukocytes. Expressed in resting B- cells and activated T-cells, but not in resting T-cells. DISEASE: Immunodeficiency, common variable, 2 (CVID2) OMIM: A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low. mutations affecting the gene represented in this entry. DISEASE: Immunoglobulin A deficiency 2 (IGAD2) OMIM: Selective deficiency of immunoglobulin A (IGAD) is the most common form of primary immunodeficiency, with an incidence of approximately 1 in 600 individuals in the western world. Individuals with symptomatic IGAD often have deficiency of IgG subclasses or decreased antibody response to carbohydrate antigens such as pneumococcal polysaccharide vaccine. Individuals with IGAD also suffer from recurrent sinopulmonary and gastrointestinal infections and have an increased incidence of autoimmune disorders and of lymphoid and non-lymphoid malignancies. In vitro studies have suggested that some individuals with IGAD have impaired isotype class switching to IgA and others may have a post-switch defect. IGAD and CVID have been known to coexist in families. Some individuals initially present with IGAD1 and then develop CVID. These observations suggest that some cases of IGAD and CVID may have a common etiology. disease is caused by mutations affecting the gene represented in this entry.|
|UniProt features for TR13B_HUMAN » Tumor necrosis factor receptor superfamily member 13B|
CHAIN 1 293 Tumor necrosis factor receptor superfamily member 13B. |
REPEAT 33 67 TNFR-Cys 1.
REPEAT 70 104 TNFR-Cys 2.
DISULFID 34 47 By similarity.
DISULFID 50 62 By similarity.
DISULFID 54 66 By similarity.
DISULFID 71 86
DISULFID 89 100
DISULFID 93 104
|Amino Acid Sequence for TR13B_HUMAN » Tumor necrosis factor receptor superfamily member 13B|
|MSGLGRSRRG GRSRVDQEER FPQGLWTGVA MRSCPEEQYW DPLLGTCMSC KTICNHQSQR TCAAFCRSLS CRKEQGKFYD HLLRDCISCA SICGQHPKQC AYFCENKLRS PVNLPPELRR QRSGEVENNS DNSGRYQGLE HRGSEASPAL PGLKLSADQV ALVYSTLGLC LCAVLCCFLV AVACFLKKRG DPCSCQPRSR PRQSPAKSSQ DHAMEAGSPV STSPEPVETC SFCFPECRAP TQESAVTPGT PDPTCAGRWG CHTRTTVLQP CPHIPDSGLG IVCVPAQEGG PGA|