| Primary Identifier | MGI:1918898 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 71648 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables K63-linked polyubiquitin modification-dependent protein binding activity. Acts upstream of or within negative regulation of canonical NF-kappaB signal transduction and protein localization. Located in perinuclear region of cytoplasm. Is expressed in several structures, including alimentary system; eye; genitourinary system; musculoskeletal system; and nervous system. Used to study low tension glaucoma. Human ortholog(s) of this gene implicated in Paget's disease of bone; amyotrophic lateral sclerosis (multiple); and glaucoma (multiple). Orthologous to human OPTN (optineurin). PHENOTYPE: Mice hypomorphic allele exhibit background sensitive embryonic lethality with surviving mice exhibiting normal immune cell development, T and B cell activation and TNF- or LPS-mediated activation of cells of the innate immune system. Homozygosity for the p.E50K mutation affects autophagy and apoptosis in the retina and leads to reduced visual function in aged mice. [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
