Primary Identifier | MGI:96548 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 16183 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables cytokine activity and interleukin-2 receptor binding activity. Involved in negative regulation of T-helper 17 cell differentiation. Acts upstream of or within several processes, including extrinsic apoptotic signaling pathway in absence of ligand; positive regulation of macromolecule metabolic process; and regulation of lymphocyte activation. Located in extracellular space. Is expressed in liver; omental bursa; thymus; and thymus primordium. Used to study Sjogren's syndrome and inflammatory bowel disease. Human ortholog(s) of this gene implicated in several diseases, including Takayasu's arteritis; auditory system disease (multiple); autoimmune disease (multiple); carcinoma (multiple); and neurodegenerative disease (multiple). Orthologous to human IL2 (interleukin 2). PHENOTYPE: Homozygous null mutants develop adult onset autoimmune disease, with 50% mortality by 9 weeks due to hemolytic anemia. Survivors develop inflammatory bowl disease/colitis. Immune system dysregulation and CD4+ T-cell overproduction may be responsible. [provided by MGI curators] |