GENETIC ENCYCLOPEDIA
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gene: CD40

id958
symbolCD40
organismHomo sapiens
full nameCD40 molecule
summaryThis 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. [provided by RefSeq, Nov 2014]
variant-disease

NM_001250.6(CD40):c.-1T>C AND not specified

NM_001250.6(CD40):c.*310C>G AND Immunodeficiency with Hyper-IgM

NM_001250.6(CD40):c.381C>T (p.Pro127=) AND not provided

NM_001250.6(CD40):c.381C>T (p.Pro127=) AND Immunodeficiency with hyper IgM type 3

NM_001250.6(CD40):c.474C>T (p.Phe158=) AND not specified

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