| Primary Identifier | MGI:102548 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 22084 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables 14-3-3 protein binding activity and GTPase activator activity. Involved in several processes, including anoikis; chemical synaptic transmission; and negative regulation of TORC1 signaling. Acts upstream of or within several processes, including intracellular protein transport; negative regulation of intracellular signal transduction; and negative regulation of lymphocyte proliferation. Located in cytoplasm. Part of TSC1-TSC2 complex. Is active in lysosomal membrane and synapse. Is expressed in several structures, including aorta; central nervous system; genitourinary system; hemolymphoid system gland; and retina. Used to study autism spectrum disorder; tuberous sclerosis; and uterine fibroid. Human ortholog(s) of this gene implicated in hepatic angiomyolipoma; lymphangioleiomyomatosis; medulloblastoma; tuberous sclerosis; and tuberous sclerosis 2. Orthologous to human TSC2 (TSC complex subunit 2). PHENOTYPE: Homozygous null mutants exhibit liver hypoplasia, open neural tube, thickened myocardium and die by embryonic day 9.5-12.5. Heterozygotes develop renal cystadenomas, liver hemangiomas (sometimes resulting in fatal bleeding) and lung adenomas. [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
