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 7.0.0) Predicted to enable NF-kappaB binding activity; identical protein binding activity; and p53 binding 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; cytosol; and perinuclear region of cytoplasm. Predicted to be active in nucleus. 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] |