InnateDB Protein
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IDBP-762761.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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TNFRSF13B
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Protein Name
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Synonyms
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CD267; CVID; CVID2; RYZN; TACI; TNFRSF14B;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000462952
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InnateDB Gene
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IDBG-408940 (TNFRSF13B)
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Protein Structure
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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. {ECO:0000269PubMed:10956646, ECO:0000269PubMed:10973284}.
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Subcellular Localization |
Membrane; Single-pass type III membrane protein.
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Disease Associations |
Immunodeficiency, common variable, 2 (CVID2) [MIM:240500]: 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. {ECO:0000269PubMed:16007086}. Note=The disease is caused by mutations affecting the gene represented in this entry.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. {ECO:0000269PubMed:16007086}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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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.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 20 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
Experimentally validated |
Total |
20
[view]
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Protein-Protein |
20
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
7 [view]
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Molecular Function |
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Biological Process |
GO:0007166
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cell surface receptor signaling pathway
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Cellular Component |
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PDB ID |
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InterPro |
IPR015384
TACI, cysteine-rich domain
IPR022317
Tumour necrosis factor receptor 13B
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PFAM |
PF09305
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PRINTS |
PR01963
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
O14836
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PhosphoSite |
PhosphoSite-O14836
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
23495
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UniGene |
Hs.158341
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RefSeq |
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HUGO |
HGNC:18153
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OMIM |
604907
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CCDS |
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HPRD |
05365
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IMGT |
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EMBL |
AF023614
AK301032
AK313302
AY302137
BC109392
CH471196
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GenPept |
AAC51790
AAI09393
AAP57629
BAG36107
BAH13394
EAW55729
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