Primary Identifier | MGI:1346023 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 24086 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable ATP binding activity; identical protein binding activity; and protein serine/threonine kinase activity. Predicted to be involved in several processes, including cellular response to gamma radiation; negative regulation of proteasomal ubiquitin-dependent protein catabolic process; and peptidyl-serine phosphorylation. Located in intermediate filament; nucleus; and perinuclear region of cytoplasm. Is expressed in several structures, including genitourinary system; heart; liver; lung; and spleen. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder. Orthologous to human TLK2 (tousled like kinase 2). PHENOTYPE: Homozygous deletion of this gene causes late embryonic lethality due to placental failure. Observed phenotypes include a small, hypocellular and poorly vascularized placenta with a disorganized labyrinth, and reduced numbers of syncytiotrophoblast, spongiotrophoblast and trophoblastic giant cells. [provided by MGI curators] |