Primary Identifier | MGI:96549 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 16184 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables interleukin-2 binding activity and interleukin-2 receptor activity. Acts upstream of or within several processes, including Notch signaling pathway; activation-induced cell death of T cells; and regulation of T cell proliferation. Located in external side of plasma membrane. Is expressed in bone marrow and yolk sac. Used to study Sjogren's syndrome and inflammatory bowel disease. Human ortholog(s) of this gene implicated in immunodeficiency 41; lymphopenia; multiple sclerosis; type 1 diabetes mellitus; and type 1 diabetes mellitus 10. Orthologous to human IL2RA (interleukin 2 receptor subunit alpha). PHENOTYPE: Homozygotes for a targeted null mutation exhibit massive proliferation of polyclonal T and B cells as adults and develop autoimmune disorders including inflammatory bowel disease and hemolytic anemia with age. [provided by MGI curators] |