Entity Details

Primary name TR13B_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO14836
EntryNameTR13B_HUMAN
FullNameTumor necrosis factor receptor superfamily member 13B
TaxID9606
Evidenceevidence at protein level
Length293
SequenceStatuscomplete
DateCreated2002-05-27
DateModified2021-06-02

Ontological Relatives

GenesTNFRSF13B

GO terms

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GOName
GO:0001782 B cell homeostasis
GO:0002244 hematopoietic progenitor cell differentiation
GO:0002250 adaptive immune response
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0007166 cell surface receptor signaling pathway
GO:0030889 negative regulation of B cell proliferation
GO:0033209 tumor necrosis factor-mediated signaling pathway
GO:0038023 signaling receptor activity

Subcellular Location

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Subcellular Location
Membrane

Domains

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DomainNameCategoryType
IPR015384 TACI, cysteine-rich domainDomainDomain
IPR022317 Tumour necrosis factor receptor 13BFamilyFamily

Diseases

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Disease IDSourceNameDescription
609529 OMIMImmunoglobulin A deficiency 2 (IGAD2)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. The disease is caused by variants affecting the gene represented in this entry.
240500 OMIMImmunodeficiency, common variable, 2 (CVID2)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. The disease is caused by variants affecting the gene represented in this entry.