| Primary Identifier | MGI:109583 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 19211 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity; protein kinase binding activity; and ubiquitin ligase activator activity. Involved in several processes, including modulation of chemical synaptic transmission; negative regulation of neuron projection development; and nervous system development. Acts upstream of or within several processes, including negative regulation of cell population proliferation; regulation of leukocyte apoptotic process; and regulation of signal transduction. Located in several cellular components, including Schmidt-Lanterman incisure; myelin sheath adaxonal region; and nucleus. Is active in neuron projection. Is expressed in several structures, including alimentary system; central nervous system; egg cylinder; genitourinary system; and sensory organ. Used to study several diseases, including Cowden syndrome (multiple); carcinoma (multiple); macrocephaly-autism syndrome; persistent fetal circulation syndrome; and reproductive organ cancer (multiple). Human ortholog(s) of this gene implicated in several diseases, including PTEN hamartoma tumor syndrome (multiple); breast cancer (multiple); macrocephaly-autism syndrome; nervous system cancer (multiple); and reproductive organ cancer (multiple). Orthologous to human PTEN (phosphatase and tensin homolog). PHENOTYPE: Homozygous null mutants die by E9.5 with abnormally patterned enlarged brains and defective placentas. Heterozygotes develop a range of neoplasms. Conditional mutants demonstrate effects on basic processes of proliferation, differentiation and apoptosis. KO of the alpha isoform affects mitophagy and causes olfactory, spatial learning and contextual fear memory deficits and increases susceptibility to induced cardiac injury. [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
