| Primary Identifier | MGI:97849 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 19374 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including phosphatidylinositol phosphate binding activity; phosphatidylinositol-3,4-bisphosphate binding activity; and zinc ion binding activity. Involved in T cell differentiation in thymus; V(D)J recombination; and pre-B cell allelic exclusion. Acts upstream of or within several processes, including B cell homeostatic proliferation; lymphocyte differentiation; and positive regulation of organ growth. Predicted to be located in nucleoplasm. Predicted to be part of DNA recombinase complex. Is expressed in gut; hemolymphoid system; and liver. Used to study Omenn syndrome and severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive. Human ortholog(s) of this gene implicated in Omenn syndrome; combined cellular and humoral immune defects with granulomas; severe combined immunodeficiency; and severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive. Orthologous to human RAG2 (recombination activating 2). PHENOTYPE: Homozygotes for targeted null mutations exhibit arrested development of T and B cell maturation at the CD4-8- thymocyte or B220+/CD43+pro-B cell stage due to inability to undergo V(D)J recombination. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
