| Primary Identifier | MGI:99928 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 16453 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protein tyrosine kinase activity. Involved in several processes, including negative regulation of T-helper 1 cell differentiation; negative regulation of macromolecule biosynthetic process; and regulation of apoptotic process. Acts upstream of or within several processes, including cell surface receptor signaling pathway; peptidyl-tyrosine phosphorylation; and positive regulation of transcription by RNA polymerase II. Predicted to be located in cytoskeleton; endomembrane system; and membrane. Predicted to be active in cytosol. Predicted to be extrinsic component of cytoplasmic side of plasma membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and liver and biliary system. Used to study severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive. Human ortholog(s) of this gene implicated in hematologic cancer (multiple) and severe combined immunodeficiency. Orthologous to human JAK3 (Janus kinase 3). PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired B cell development, small thymi and T cell proliferate. Point mutation homozygotes develop autoimmune inflammatory bowel disease, decreased susceptibility to malaria infection and/or increased susceptibility to bacterial infection. [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
