CD40 Antibody – Rat Monoclonal

The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor has been found to be essential in 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. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

Function: Receptor for TNFSF5/CD40LG.

Subunit structure: Monomer and homodimer. The variant form found in the bladder carcinoma cell line Hu549 does not form homodimers. Interacts with TRAF1, TRAF2, TRAF3, TRAF5 and TRAF6. Ref.11 Ref.14 Ref.15 Ref.16 Ref.17 Ref.18

Subcellular location: Isoform I: Cell membrane; Single-pass type I membrane protein. Isoform II: Secreted.

Tissue specificity: B-cells and in primary carcinomas.

Involvement in disease: Immunodeficiency with hyper-IgM 3 (HIGM3) [MIM:606843]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.23

Sequence similarities: Contains 4 TNFR-Cys repeats.