Alt. symbols: HIGM1 | IMD3 | TNFSF5 | CD40L | TRAP | gp39 | hCD40L | CD154

Approved name: CD40 ligand
Alt. names: tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome) | CD40 antigen ligand, tumor necrosis factor (ligand) superfamily member 5, T-B cell-activating molecule, TNF-related activation protein, hyper-IgM syndrome

Location: Xq26.3: 136648158 - 136660390 (+)
Gene type: protein_coding, 8 transcripts.

Scores: LoFtool: | pLI: 0.86443371 | LOEUF: 0.557

HGNC: 11935

NCBI: 959, RefSeq: NG_007280.1

Ensembl: ENSG00000102245.9

LRG_141 | Status: public

OMIM: 300386

Expression | ProteinAtlas

The CD40LG encodes the protein known as CD40 ligand (CD154), which is found on the surface of T cells. CD40 ligand attaches to its receptor protein, CD40, which is located on the surface of B cells. Upon binding of CD40L, CD40 triggers a series of chemical signals that instruct B cells to mature and switch from being immunoglobulin M (IgM) class secreting cells to immunoglobulin G (IgG), immunoglobulin A (IgA), or immunoglobulin E (IgE) producing B cells. CD40 ligand is also necessary for T cells to interact with other cells of the immune system, and it plays a key role in T cell differentiation.

Hemizygous mutations in CD40LG can lead to recessive X-linked hyper-IgM (HIGM) syndrome [MIM:308230]. X-HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels associated with markedly decreased IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. Patients with X-linked HIGM also tend to have neutropenia, as well as a high rate of gastrointestinal and central nervous system infe ctions, often resulting in severe liver disease and/or neurodegeneration. [Load More]