| Primary Identifier | MGI:2445052 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 271981 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable GTPase activator activity. Predicted to be involved in actin cytoskeleton organization; cell population proliferation; and regulation of TOR signaling. Predicted to be located in cytoplasm; midbody; and mitotic spindle. Is expressed in several structures, including alimentary system; cardiovascular system; genitourinary system; hemolymphoid system gland; and nervous system. Human ortholog(s) of this gene implicated in infantile hypotonia with psychomotor retardation and characteristic facies-3. Orthologous to human TBCK (TBC1 domain containing kinase). PHENOTYPE: Mice homozygous for a knock-out allele are embryonic lethal. Heterozygotes exhibit reduced exploratory behavior often with sex-specific differences. [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
