Primary Identifier | MGI:104813 | Organism | mouse, laboratory |
Chromosome | 13 | NCBI Gene Number | 16468 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including chromatin binding activity; ubiquitin binding activity; and ubiquitin-modified histone reader activity. Contributes to histone H3K27 methyltransferase activity. Involved in facultative heterochromatin formation; negative regulation of transcription by RNA polymerase II; and stem cell differentiation. Acts upstream of or within several processes, including cellular response to leukemia inhibitory factor; hematopoietic or lymphoid organ development; and negative regulation of macromolecule biosynthetic process. Located in nucleus. Part of ESC/E(Z) complex. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; genitourinary system; and sensory organ. Human ortholog(s) of this gene implicated in autistic disorder. Orthologous to human JARID2 (jumonji and AT-rich interaction domain containing 2). PHENOTYPE: Homozygous mutants show strain-specific phenotypes, including embryonic death and defective neural tube closure, impaired hematopoiesis and hypoplasia of liver, thymus and spleen. Homozygotes for another mutation die at birth with cardiac defects. [provided by MGI curators] |