Disease-gene associations mined from literature

Literature associating CD40LG and immunodeficiency with hyper-IgM type 4

CD40LG [ENSP00000359663]

Tumor necrosis factor ligand superfamily member 5; Cytokine that binds to CD40/TNFRSF5. Costimulates T-cell proliferation and cytokine production. Its cross-linking on T-cells generates a costimulatory signal which enhances the production of IL4 and IL10 in conjunction with the TCR/CD3 ligation and CD28 costimulation. Induces the activation of NF-kappa-B and kinases MAPK8 and PAK2 in T- cells. Induces tyrosine phosphorylation of isoform 3 of CD28. Mediates B-cell proliferation in the absence of co-stimulus as well as IgE production in the presence of IL4. Involved in immunoglobulin class switching (By similarity); Belongs to the tumor necrosis factor family.

Synonyms:  CD40LG,  CD40LGp,  hCD40LG,  CD40LG-001,  CD40LG-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM