CD40 ist ein Gen, das durch das Symbol CD40 kodiert wird. Andere Namen sind: Tumor necrosis factor receptor superfamily member 5; B-cell surface antigen Bp50L receptor; CDw40; TNFRSF5. CD40 hat eine Masse von 30.62kDa, eine Aminosäurelänge von 277, und ist an Immunodeficiency with hyper-IgM 3 beteiligt.
Wir bieten 4 CD40proteine an
Gen- und Proteininformationen
UniProt Zusammenfassung
Receptor for TNFSF5/CD40LG (PubMed:31331973). Transduces TRAF6- and MAP3K8-mediated signals that activate ERK in macrophages and B cells, leading to induction of immunoglobulin secretion (By similarity).
Entrez Zusammenfassung
This gene is a member of the TNF-receptor superfamily. The encoded protein is a receptor on antigen-presenting cells of the immune system and is essential for mediating a broad variety of immune and inflammatory responses including T cell-dependent immunoglobulin class switching, memory B cell development, and germinal center formation. AT-hook transcription factor AKNA is reported to coordinately regulate the expression of this receptor and its ligand, which may be important for homotypic cell interactions. Adaptor protein TNFR2 interacts with this receptor and serves as a mediator of the signal transduction. The interaction of this receptor and its ligand is found to be necessary for amyloid-beta-induced microglial activation, and thus is thought to be an early event in Alzheimer disease pathogenesis. Mutations affecting this gene are the cause of autosomal recessive hyper-IgM immunodeficiency type 3 (HIGM3). Multiple alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported.
Gewebespezifität
B-cells and in primary carcinomas.
Rolle bei Krankheiten
Immunodeficiency with hyper-IgM 3: A rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections.
