TNFAIP8L2

Chr 1

TNF alpha induced protein 8 like 2

Also known as: TNFAIP8L2

Predicted to be involved in negative regulation of T cell activation and negative regulation of inflammatory response. Predicted to be located in lysosome and nucleus. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
MultiplemechanismLOEUF 1.77
Clinical SummaryTNFAIP8L2
Population Constraint (gnomAD)
Low constraint (pLI 0.04) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.77LOEUF
pLI 0.038
Z-score 0.43
OE 0.72 (0.281.77)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.90Z-score
OE missense 0.77 (0.650.91)
90 obs / 117.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.72 (0.281.77)
00.351.4
Missense OE?0.77 (0.650.91)
00.61.4
Synonymous OE?0.83
01.21.6
LoF obs/exp: 2 / 2.8Missense obs/exp: 90 / 117.3Syn Z: 0.93

This gene — mechanism propensity

DN
0.76top 25%
GOF
0.75top 25%
LOF
0.2288th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TNFAIP8L2 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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