InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TNFRSF13B

Summary

InnateDB Protein

IDBP-32575.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TNFRSF13B

Protein Name

tumor necrosis factor receptor superfamily, member 13B

Synonyms

CD267; CVID; CVID2; RYZN; TACI; TNFRSF14B;

Species

Homo sapiens

Ensembl Protein

ENSP00000261652

InnateDB Gene

IDBG-408940 (TNFRSF13B)

Protein Structure

UniProt Annotation

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}.

Subcellular Localization

Membrane; Single-pass type III membrane protein.

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.

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.

Comments

Interactions

Number of Interactions

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]
Protein-Protein	20 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	7 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004872	receptor activity
GO:0005515	protein binding

Biological Process

GO:0001782	B cell homeostasis
GO:0002244	hematopoietic progenitor cell differentiation
GO:0007166	cell surface receptor signaling pathway
GO:0030889	negative regulation of B cell proliferation