Primary Identifier | MGI:2146430 | Organism | mouse, laboratory |
Chromosome | 16 | NCBI Gene Number | 208650 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable receptor tyrosine kinase binding activity and ubiquitin protein ligase activity. Involved in regulation of platelet-derived growth factor receptor-alpha signaling pathway; regulation of postsynaptic neurotransmitter receptor internalization; and regulation protein catabolic process at postsynapse. Acts upstream of or within several processes, including negative regulation of CD4-positive, alpha-beta T cell proliferation; positive regulation of T cell anergy; and positive regulation of protein metabolic process. Is active in glutamatergic synapse and postsynapse. Is expressed in brain; extrinsic ocular muscle; and incisor. Human ortholog(s) of this gene implicated in lung non-small cell carcinoma; stomach carcinoma; and type 1 diabetes mellitus. Orthologous to human CBLB (Cbl proto-oncogene B). PHENOTYPE: Homozygotes for targeted null mutations exhibit elevated IL2 production by T cells, develop spontaneous autoimmunity, and are highly susceptible to experimental autoimmune encephalomyelitis. [provided by MGI curators] |