| Primary Identifier | MGI:99613 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 22637 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables ATP binding activity; phosphotyrosine residue binding activity; and protein tyrosine kinase activity. Acts upstream of or within several processes, including T cell receptor signaling pathway; T cell selection; and positive regulation of alpha-beta T cell activation. Located in cell-cell junction; cytosol; and immunological synapse. Is expressed in brain; gut; hemolymphoid system gland; liver; and lung epithelium. Used to study rheumatoid arthritis. Human ortholog(s) of this gene implicated in immunodeficiency 48 and severe combined immunodeficiency. Orthologous to human ZAP70 (zeta chain of T cell receptor associated protein kinase 70). PHENOTYPE: Mutant mice show T cell defects. Null mutants lack alpha-beta T cells in the thymus and have fewer T cells in dendritic and intestinal epithelium. Spontaneous and knock-in missense mutations affect T cell receptor signaling, one of the former resulting in severe chronic arthritis. [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
