TNFAIP3 Chromosome 6
TNF alpha induced protein 3
Upload your DNA to see your personal genotypes for variants in TNFAIP3.
What This Gene Does
This gene was identified as a gene whose expression is rapidly induced by the tumor necrosis factor (TNF). The protein encoded by this gene is a zinc finger protein and ubiqitin-editing enzyme, and has been shown to inhibit NF-kappa B activation as well as TNF-mediated apoptosis. The encoded protein, which has both ubiquitin ligase and deubiquitinase activities, is involved in the cytokine-mediated immune and inflammatory responses. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2012]
Gene Info
Gene Group
"OTU domain containing|Zinc fingers A20-type"
Locus Type
gene with protein product
Location
6q23.3
Ensembl
ENSG00000118503
Associated Conditions (7)
Autoinflammatory syndrome
familial
Behcet-like
Behcet-like 1
TNFAIP3-related disorder
Inborn genetic diseases
Uterine corpus endometrial carcinoma
Key Variants
RS140610274
Conflicting classifications of pathogenicity
Health Risk
RS142253225
Conflicting classifications of pathogenicity
Autoinflammatory syndrome, familial, Behcet-like
Health Risk
RS142752989
Conflicting classifications of pathogenicity
Autoinflammatory syndrome, familial, Behcet-like
Health Risk
RS143002189
Conflicting classifications of pathogenicity
Autoinflammatory syndrome, familial, Behcet-like 1
Health Risk
RS143619694
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145392420
Conflicting classifications of pathogenicity
Health Risk
RS146004919
Conflicting classifications of pathogenicity
Health Risk
RS150355046
Conflicting classifications of pathogenicity
Autoinflammatory syndrome, familial, Behcet-like 1
Health Risk
RS200840068
Conflicting classifications of pathogenicity
Autoinflammatory syndrome, familial, Behcet-like 1
Health Risk
RS201052251
Conflicting classifications of pathogenicity
Autoinflammatory syndrome, familial, Behcet-like 1
Health Risk
RS201429571
Conflicting classifications of pathogenicity
Autoinflammatory syndrome, familial, Behcet-like
Health Risk
RS2114502128
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (74)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2114506070 | Health Risk | Pathogenic | — |
| RS2114506723 | Health Risk | Pathogenic | — |
| RS2482708060 | Health Risk | Pathogenic | — |
| RS2482709868 | Health Risk | Pathogenic | — |
| RS2482726726 | Health Risk | Pathogenic | — |
| RS2482733805 | Health Risk | Pathogenic | — |
| RS2482735643 | Health Risk | Pathogenic | — |
| RS2482743566 | Health Risk | Pathogenic | Autoinflammatory syndrome, familial, Behcet-like 1 |
| RS2482749858 | Health Risk | Pathogenic | — |
| RS2482752267 | Health Risk | Pathogenic | — |
| RS2482753368 | Health Risk | Pathogenic | — |
| RS2482757985 | Health Risk | Pathogenic | — |
| RS2482759087 | Health Risk | Pathogenic | — |
| RS2482772444 | Health Risk | Pathogenic | — |
| RS370705859 | Health Risk | Pathogenic | Autoinflammatory syndrome, familial, Behcet-like 1 |
| RS864321625 | Health Risk | Pathogenic | Autoinflammatory syndrome, familial, Behcet-like 1 |
| RS864321626 | Health Risk | Pathogenic | Autoinflammatory syndrome, familial, Behcet-like 1 |
| RS864321682 | Health Risk | Pathogenic | Autoinflammatory syndrome, familial, Behcet-like 1 |
| RS864321684 | Health Risk | Pathogenic | Autoinflammatory syndrome, familial, Behcet-like 1 |
| RS864321685 | Health Risk | Pathogenic | Autoinflammatory syndrome, familial, Behcet-like 1 |
| RS888517622 | Health Risk | Pathogenic | — |
| RS2114490906 | Health Risk | Pathogenic/Likely pathogenic | Autoinflammatory syndrome, familial, Behcet-like |
| RS2114501370 | Health Risk | Pathogenic/Likely pathogenic | Autoinflammatory syndrome, familial, Behcet-like 1 |
| RS2482750192 | Health Risk | Pathogenic/Likely pathogenic | Autoinflammatory syndrome, familial, Behcet-like 1 |