CD40 est un gène codé par le symbole CD40. D'autres noms incluent: Tumor necrosis factor receptor superfamily member 5; B-cell surface antigen Bp50L receptor; CDw40; TNFRSF5. CD40 a une masse de 30.62kDa, une longueur d'acide aminé de 277, et est impliqué dans Immunodeficiency with hyper-IgM 3.
Nous proposons 4 CD40 protéines
Informations sur les Gènes et les Protéines
Résumé UniProt
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).
Résumé Entrez
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.
Spécificité tissulaire
B-cells and in primary carcinomas.
Implication dans la maladie
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.
Localisation cellulaire
Cell membrane.
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