Primary Identifier | MGI:2138319 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 209456 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable NF-kappaB binding activity; p53 binding activity; and protein homodimerization activity. Acts upstream of or within several processes, including embryo development; heart development; and response to ionizing radiation. Predicted to be located in cell junction and cytosol. Predicted to be active in nucleus. Predicted to colocalize with perinuclear region of cytoplasm. Is expressed in several structures, including alimentary system; brain; respiratory system; sensory organ; and urinary system. Used to study chromosome 1q41-q42 deletion syndrome. Orthologous to human TP53BP2 (tumor protein p53 binding protein 2). PHENOTYPE: Homozygous mutation is lethal by 30 days of age, although majority die embryonically. Heterozygotes show increased susceptibility to spontaneous and induced tumors of the lymphoma and sarcoma types [provided by MGI curators] |