| Primary Identifier | MGI:104798 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 21926 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables protease binding activity; receptor ligand activity; and tumor necrosis factor receptor binding activity. Involved in several processes, including cellular response to cytokine stimulus; macrophage activation; and positive regulation of cell communication. Acts upstream of or within several processes, including apoptotic signaling pathway; positive regulation of intracellular signal transduction; and regulation of gene expression. Located in several cellular components, including external side of plasma membrane; phagocytic cup; and recycling endosome. Is active in extracellular space. Is expressed in several structures, including brain; genitourinary system; gut; integumental system; and lung. Used to study aortic valve stenosis; heart valve disease; inflammatory bowel disease; rheumatoid arthritis; and spondyloarthropathy. Human ortholog(s) of this gene implicated in several diseases, including artery disease (multiple); autoimmune disease (multiple); eye disease (multiple); lung disease (multiple); and skin disease (multiple). Orthologous to human TNF (tumor necrosis factor). PHENOTYPE: Mutations at this locus primarily affect the immune system, causing increased susceptibility to infection, failure to form splenic B-cell follicles, increased inflammation and impaired contact hypersensitivity. Homozygotes also may show metabolic defects. Combined deletions of certain regulatory regions in the 3' UTR are embryonic lethal (homozygous) or cause arthritis and intestinal and cardiac valve inflammation and reduced lifespan (heterozygous). [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
