TNIP3

Chr 4

TNFAIP3 interacting protein 3

Also known as: ABIN-3, LIND

NCBI Gene: 79931 ENSG00000050730 UniProt: Q96KP6 OMIM: 608019

The TNIP3 protein binds to TNFAIP3 and inhibits NF-kappa-B signaling in response to inflammatory stimuli including TNF, TLR4, and interleukin-1. Biallelic mutations cause a severe early-onset autoinflammatory disorder with recurrent fever, skin lesions, joint inflammation, and potential neurologic involvement. This gene shows tolerance to loss-of-function variants (low pLI), consistent with autosomal recessive inheritance.

OMIM ResearchSummary from RefSeq, UniProt

Enables polyubiquitin modification-dependent protein binding activity. Involved in cellular response to lipopolysaccharide; negative regulation of canonical NF-kappaB signal transduction; and pattern recognition receptor signaling pathway. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

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.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.56

LOEUF

Mechanism· predicted