| Primary Identifier | MGI:107940 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 14056 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including histone H3K27 methyltransferase activity; nucleic acid binding activity; and transcription corepressor activity. Involved in B cell differentiation; facultative heterochromatin formation; and regulation of circadian rhythm. Acts upstream of or within several processes, including cardiac muscle hypertrophy in response to stress; negative regulation of cell differentiation; and regulation of DNA-templated transcription. Located in pericentric heterochromatin and pronucleus. Part of ESC/E(Z) complex and chromatin silencing complex. Is expressed in several structures, including alimentary system; central nervous system; early conceptus; genitourinary system; and integumental system. Used to study B-cell lymphoma; Weaver syndrome; and acute lymphoblastic leukemia. Human ortholog(s) of this gene implicated in several diseases, including Weaver syndrome; gastrointestinal system cancer (multiple); glioblastoma; hematologic cancer (multiple); and renal Wilms' tumor. Orthologous to human EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit). PHENOTYPE: Homozygous null mutants die prior to completing gastrulation. A conditional mutant with loss of expression in immune cells survives, but has defects in early B cell development and Igh rearrangement. Conditional loss of maternal protein results in severe growth retardation of neonates. Conditional loss in oligodendrocytes affects their maturation and delays subsequent myelinization of axons in the central nervous system by oligodendrocytes. Homozygosity for a catalytically defective mutant is embryonic lethal, while heterozygosity affects bone formation and leads to increased body weight in females. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
