| Primary Identifier | MGI:107202 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 11920 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables histone H2AXS139 kinase activity. Involved in several processes, including cellular response to retinoic acid; negative regulation of TORC1 signaling; and regulation of macromolecule biosynthetic process. Acts upstream of or within several processes, including immune system development; intracellular signal transduction; and meiotic nuclear division. Located in cytoplasm; microtubule cytoskeleton; and nucleus. Is extrinsic component of synaptic vesicle membrane. Is expressed in several structures, including alimentary system; genitourinary system; hemolymphoid system; nervous system; and sensory organ. Used to study ataxia telangiectasia. Human ortholog(s) of this gene implicated in several diseases, including breast cancer (multiple); endocrine gland cancer (multiple); lung carcinoma (multiple); neurodegenerative disease (multiple); and senile cataract. Orthologous to human ATM (ATM serine/threonine kinase). PHENOTYPE: Homozygotes for null mutations may exhibit locomotor abnormalities, motor learning deficits, growth retardation, sterility due to meiotic arrest, and susceptibility to thymic lymphomas. Mice homozygous for a kinase dead allele exhibit early embryonic lethality associated with genetic instability. [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
