Primary Identifier | MGI:99515 | Organism | mouse, laboratory |
Chromosome | 13 | NCBI Gene Number | 20963 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.4.0) Enables several functions, including ATP binding activity; SH2 domain binding activity; and enzyme binding activity. Involved in several processes, including cell surface receptor signaling pathway; myeloid cell activation involved in immune response; and regulation of vesicle-mediated transport. Acts upstream of or within several processes, including positive regulation of lymphocyte activation; positive regulation of macromolecule metabolic process; and protein phosphorylation. Located in early phagosome. Part of B cell receptor complex. Is expressed in liver. Human ortholog(s) of this gene implicated in primary immunodeficiency disease. Orthologous to human SYK (spleen associated tyrosine kinase). PHENOTYPE: Homozygous null mice have high rates of postnatal lethality, exhibit developmental defects of B cells, T cells and osteoclasts, and have defective dendritic cell cross-presentation of antigens from necrotic cells. [provided by MGI curators] |