TNFAIP3

Chr 6AD

TNF alpha induced protein 3

Also known as: A20, AIFBL1, AISBL, OTUD7C, TNFA1P2

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]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Autoinflammatory syndrome, familial, Behcet-like 1MIM #616744
AD

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
5
Active trials
236
Pubs (1 yr)
P/LP submissions
P/LP missense
0.20
LOEUF· LoF intol.
LOF
Mechanism· predicted
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GeneReview available — TNFAIP3
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint?
0.20LOEUF
pLI 1.000
Z-score 4.93
OE 0.06 (0.020.20)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
1.45Z-score
OE missense 0.81 (0.750.88)
387 obs / 476.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.06 (0.020.20)
00.351.4
Missense OE?0.81 (0.750.88)
00.61.4
Synonymous OE?0.85
01.21.6
LoF obs/exp: 2 / 32.2Missense obs/exp: 387 / 476.2Syn Z: 1.55

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TNFAIP3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.