Primary Identifier | MGI:88336 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 21939 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable antigen binding activity; protein domain specific binding activity; and ubiquitin protein ligase binding activity. Involved in B cell mediated immunity; CD40 signaling pathway; and intracellular calcium ion homeostasis. Acts upstream of or within several processes, including defense response to other organism; phosphatidylinositol 3-kinase/protein kinase B signal transduction; and positive regulation of B cell activation. Located in external side of plasma membrane and intracellular membrane-bounded organelle. Part of CD40 receptor complex. Is expressed in several structures, including alimentary system; brain; hemolymphoid system gland; limb; and reproductive system. Human ortholog(s) of this gene implicated in several diseases, including Kawasaki disease; autoimmune disease (multiple); end stage renal disease; hyperimmunoglobulin syndrome (multiple); and non-Hodgkin lymphoma (multiple). Orthologous to human CD40 (CD40 molecule). PHENOTYPE: Homozygous inactivation of this gene may cause impaired immunoglobulin class switching and germinal center formation, reduced susceptibility to type II hypersensitivity reaction, impaired priming of T cells and control of M. tuberculosis infection, and altered response to transplant. [provided by MGI curators] |