Primary Identifier | MGI:2149010 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 94176 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.4.0) Enables GTPase activator activity. Involved in macropinocytosis; myeloid dendritic cell activation involved in immune response; and positive regulation of phagocytosis. Acts upstream of or within several processes, including T cell activation; immunological synapse formation; and membrane raft polarization. Predicted to be located in cytoskeleton; endomembrane system; and membrane. Predicted to be active in cytoplasm and plasma membrane. Is expressed in central nervous system; paraxial mesenchyme; and retina. Human ortholog(s) of this gene implicated in immunodeficiency 40. Orthologous to human DOCK2 (dedicator of cytokinesis 2). PHENOTYPE: Homozygous mutants are defective in the migration of T and B lympohcytes in response to chemokines, and thus display immune defects such as lymphocytopenia, atrophy of lymphoid follicles and loss of marginal-zone B cells. [provided by MGI curators] |