Primary Identifier | MGI:1101759 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 19821 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables chromatin binding activity and histone H2AK119 ubiquitin ligase activity. Involved in germ cell development and negative regulation of transcription by RNA polymerase II. Acts upstream of or within with a positive effect on chromatin organization. Acts upstream of or within with a negative effect on gene expression. Acts upstream of or within anterior/posterior axis specification; gastrulation with mouth forming second; and mitotic cell cycle. Located in euchromatin; nuclear body; and sex chromatin. Part of PRC1 complex. Is active in cytoplasm and nucleus. Is expressed in several structures, including central nervous system; early embryo; genitourinary system; limb; and retina. Human ortholog(s) of this gene implicated in Luo-Schoch-Yamamoto syndrome. Orthologous to human RNF2 (ring finger protein 2). PHENOTYPE: Embryos homozygous for a null allele show an early growth arrest, failure to progress through gastrulation, impaired epiblast expansion, accumulation of posterior mesoderm and die before E10.5. Mice homozygous for a hypomorphic allele show posterior homeotic transformations of the axial skeleton. [provided by MGI curators] |