Description: Homo sapiens tumor necrosis factor receptor superfamily, member 13B (TNFRSF13B), mRNA. RefSeq Summary (NM_012452): The protein encoded by this gene 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 crucial role in humoral immunity by interacting with a TNF ligand. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr17:16,842,398-16,875,402 Size: 33,005 Total Exon Count: 5 Strand: - Coding Region Position: hg19 chr17:16,842,861-16,875,389 Size: 32,529 Coding Exon Count: 5
ID:TR13B_HUMAN DESCRIPTION: RecName: Full=Tumor necrosis factor receptor superfamily member 13B; AltName: Full=Transmembrane activator and CAML interactor; AltName: CD_antigen=CD267; 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. INTERACTION: Q99836:MYD88; NbExp=12; IntAct=EBI-519160, EBI-447677; Q9Y275:TNFSF13B; NbExp=7; IntAct=EBI-519160, EBI-519169; SUBCELLULAR LOCATION: Membrane; Single-pass type III membrane protein. 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: Defects in TNFRSF13B are the cause of immunodeficiency common variable type 2 (CVID2) [MIM:240500]. CVID2 is 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. DISEASE: Defects in TNFRSF13B are a cause of immunoglobulin A deficiency 2 (IGAD2) [MIM:609529]. 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. SIMILARITY: Contains 2 TNFR-Cys repeats. WEB RESOURCE: Name=TNFRSF13Bbase; Note=TNFRSF13B mutation db; URL="http://bioinf.uta.fi/TNFRSF13Bbase/"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TNFRSF13B";
aneurysm, intracranial Inoue, K. et al. 2006, Search on Chromosome 17 Centromere Reveals TNFRSF13B as a Susceptibility Gene for Intracranial Aneurysm. A Preliminary Study, Circulation 2006.
[PubMed 16618819]
We propose that TNFRSF13B is one of the susceptibility genes for IA.
Blood Proteins Yoichiro Kamatani et al. Nature genetics 2010, Genome-wide association study of hematological and biochemical traits in a Japanese population., Nature genetics.
[PubMed 20139978]
Blood Proteins Wael Osman et al. PloS one 2012, Association of common variants in TNFRSF13B, TNFSF13, and ANXA3 with serum levels of non-albumin protein and immunoglobulin isotypes in Japanese., PloS one.
[PubMed 22558069]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O14836
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
AK303298 - Homo sapiens cDNA FLJ52819 complete cds, highly similar to Tumor necrosis factor receptor superfamilymember 13B. AX772740 - Sequence 1 from Patent WO03045421. AF023614 - Homo sapiens transmembrane activator and CAML interactor (TACI) mRNA, complete cds. AX766384 - Sequence 1 from Patent WO03041730. AK097261 - Homo sapiens cDNA FLJ39942 fis, clone SPLEN2023024, highly similar to Macaca mulatta transmembrane activator (NF-AT) mRNA. JD254208 - Sequence 235232 from Patent EP1572962. AK223453 - Homo sapiens mRNA for tumor necrosis factor receptor 13B variant, clone: FCC114F06. JD437986 - Sequence 419010 from Patent EP1572962. JD064277 - Sequence 45301 from Patent EP1572962. JD441090 - Sequence 422114 from Patent EP1572962. JD186242 - Sequence 167266 from Patent EP1572962. JD178949 - Sequence 159973 from Patent EP1572962. JD442170 - Sequence 423194 from Patent EP1572962. JD204928 - Sequence 185952 from Patent EP1572962. JD178952 - Sequence 159976 from Patent EP1572962. JD064249 - Sequence 45273 from Patent EP1572962. JD445451 - Sequence 426475 from Patent EP1572962. JD064276 - Sequence 45300 from Patent EP1572962. JD103757 - Sequence 84781 from Patent EP1572962. JD066037 - Sequence 47061 from Patent EP1572962. JD064250 - Sequence 45274 from Patent EP1572962. JD437368 - Sequence 418392 from Patent EP1572962. JD103604 - Sequence 84628 from Patent EP1572962. JD186222 - Sequence 167246 from Patent EP1572962. JD064020 - Sequence 45044 from Patent EP1572962. JD330766 - Sequence 311790 from Patent EP1572962. JD043493 - Sequence 24517 from Patent EP1572962. JD202846 - Sequence 183870 from Patent EP1572962. JD214242 - Sequence 195266 from Patent EP1572962. JD064248 - Sequence 45272 from Patent EP1572962. JD436276 - Sequence 417300 from Patent EP1572962. JD483635 - Sequence 464659 from Patent EP1572962. JD317006 - Sequence 298030 from Patent EP1572962. JD442070 - Sequence 423094 from Patent EP1572962. JD331248 - Sequence 312272 from Patent EP1572962. JD442009 - Sequence 423033 from Patent EP1572962. JD064268 - Sequence 45292 from Patent EP1572962. JD178951 - Sequence 159975 from Patent EP1572962. JD063852 - Sequence 44876 from Patent EP1572962. BC109392 - Homo sapiens tumor necrosis factor receptor superfamily, member 13B, mRNA (cDNA clone MGC:133214 IMAGE:40030781), complete cds. JD331227 - Sequence 312251 from Patent EP1572962. JD077119 - Sequence 58143 from Patent EP1572962. JD178496 - Sequence 159520 from Patent EP1572962. JD332985 - Sequence 314009 from Patent EP1572962. JD471484 - Sequence 452508 from Patent EP1572962. JD342729 - Sequence 323753 from Patent EP1572962. JD445340 - Sequence 426364 from Patent EP1572962. JD108476 - Sequence 89500 from Patent EP1572962. JD492695 - Sequence 473719 from Patent EP1572962. AY302137 - Homo sapiens transmembrane activator and CAML interactor (TNFRSF13B) mRNA, complete cds; alternatively spliced. AK313302 - Homo sapiens cDNA, FLJ93815, highly similar to Homo sapiens tumor necrosis factor receptor superfamily, member 13B (TNFRSF13B), mRNA. KJ902345 - Synthetic construct Homo sapiens clone ccsbBroadEn_11739 TNFRSF13B gene, encodes complete protein. KR711554 - Synthetic construct Homo sapiens clone CCSBHm_00025940 TNFRSF13B (TNFRSF13B) mRNA, encodes complete protein. KR711555 - Synthetic construct Homo sapiens clone CCSBHm_00025943 TNFRSF13B (TNFRSF13B) mRNA, encodes complete protein. KR711556 - Synthetic construct Homo sapiens clone CCSBHm_00025946 TNFRSF13B (TNFRSF13B) mRNA, encodes complete protein. KR711557 - Synthetic construct Homo sapiens clone CCSBHm_00025951 TNFRSF13B (TNFRSF13B) mRNA, encodes complete protein. KR712223 - Synthetic construct Homo sapiens clone CCSBHm_00900178 TNFRSF13B (TNFRSF13B) mRNA, encodes complete protein. KR712231 - Synthetic construct Homo sapiens clone CCSBHm_00900189 TNFRSF13B (TNFRSF13B) mRNA, encodes complete protein. KR712232 - Synthetic construct Homo sapiens clone CCSBHm_00900190 TNFRSF13B (TNFRSF13B) mRNA, encodes complete protein. AK301032 - Homo sapiens cDNA FLJ52770 complete cds, highly similar to Tumor necrosis factor receptor superfamily member 13B.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04060 - Cytokine-cytokine receptor interaction hsa04672 - Intestinal immune network for IgA production hsa05340 - Primary immunodeficiency
Reactome (by CSHL, EBI, and GO)
Protein O14836 (Reactome details) participates in the following event(s):