| Primary Identifier | MGI:96629 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 16452 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables interleukin-12 receptor binding activity and protein tyrosine kinase activity. Involved in several processes, including hemopoiesis; positive regulation of macromolecule metabolic process; and positive regulation of signal transduction. Acts upstream of or within several processes, including cell surface receptor signaling pathway; cellular response to lipid; and regulation of apoptotic process. Located in caveola and nucleus. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; liver and biliary system; and musculoskeletal system. Used to study essential thrombocythemia; myelofibrosis; myeloproliferative neoplasm; and polycythemia vera. Human ortholog(s) of this gene implicated in several diseases, including gastrointestinal system cancer (multiple); hematologic cancer (multiple); hepatic vascular disease (multiple); inflammatory bowel disease (multiple); and lung non-small cell carcinoma (multiple). Orthologous to human JAK2 (Janus kinase 2). PHENOTYPE: Homozygotes for null mutations die during midgestation due to a failure of erythropoieses. Mice expressing a conditional allele activated in mammary tissue exhibit lactation deficiency due to impaired alveologenesis. Mice homozygous for a knock-in allele exhibit myeloproliferative neoplasm. [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
