CD40

Function

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).

Involvement in disease

Immunodeficiency with hyper-IgM 3

HIGM3

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Tissue Specificity

B-cells and in primary carcinomas.

Cellular localization

• Isoform I
• Cell membrane
• Single-pass type I membrane protein
• Isoform II
• Secreted

Alternative names

CD40, TNFRSF5, Tumor necrosis factor receptor superfamily member 5, B-cell surface antigen CD40, Bp50, CD40L receptor, CDw40

Database links

swissprot:P25942 omim:109535 entrezGene:958

Other research areas

• Immunology & Infectious Disease
• Neuroscience