| Primary Identifier | MGI:88216 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 12229 |
| 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 negative regulation of cytokine production and positive regulation of NLRP3 inflammasome complex assembly. Acts upstream of or within several processes, including B cell affinity maturation; cellular response to interleukin-7; and negative regulation of B cell proliferation. Located in cytoplasmic vesicle; membrane raft; and nucleus. Is expressed in liver left lobe; liver right lobe; spleen; and thymus primordium. Used to study X-linked agammaglobulinemia. Human ortholog(s) of this gene implicated in agammaglobulinemia (multiple); isolated growth hormone deficiency type III; and lymphoma (multiple). Orthologous to human BTK (Bruton tyrosine kinase). PHENOTYPE: Mutants have immune defects including reduced B cell numbers, serum immunoglobulin deficiencies, and defective responses to B cell activators and thymus-independent antigens. B-1 B cells are absent in these mice. [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
