| Primary Identifier | MGI:108420 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 18024 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including PERK-mediated unfolded protein response; regulation of gene expression; and regulation of reactive oxygen species metabolic process. Acts upstream of or within several processes, including cellular response to copper ion; endoplasmic reticulum unfolded protein response; and response to sodium arsenite. Located in chromatin; cytosol; and nucleus. Part of protein-DNA complex. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in Alzheimer's disease; eye disease (multiple); liver disease (multiple); and tuberculosis. Orthologous to human NFE2L2 (NFE2 like bZIP transcription factor 2). PHENOTYPE: Nullizygous mice show increased sensitivity to oxidative stress in a variety of organs and cells, abnormal tooth enamel, altered response to various injuries, chemical treatments and induced inflammatory diseases, and an age-related decline in spermatogenesis and ovarian follicle numbers. Liver-specific homozygosity for the p.E79Q mutation leads to an enlarged but not damaged liver. [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
