Primary Identifier | MGI:2143599 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 103213 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables signaling receptor binding activity and ubiquitin protein ligase activity. Involved in several processes, including cell surface receptor signaling pathway; hematopoietic or lymphoid organ development; and lymphocyte differentiation. Acts upstream of or within B cell apoptotic process and humoral immune response. Is active in cytoplasmic vesicle and nucleus. Used to study Sjogren's syndrome; atopic dermatitis; and systemic lupus erythematosus. Human ortholog(s) of this gene implicated in chronic mucocutaneous candidiasis and psoriasis 13. Orthologous to human TRAF3IP2 (TRAF3 interacting protein 2). PHENOTYPE: Mice homozygous for one null allele exhibit splenomegaly, lymphadenopathy, increased number of B cells, defective IL-17 signaling, and increased immunoglobulin levels (including auto-antibodies) whereas mice homozygous for another null allele lack these features except the defect in IL-17 signaling. [provided by MGI curators] |