TNIP2

Chr 4

TNFAIP3 interacting protein 2

Also known as: ABIN2, FLIP1, KLIP

NCBI Gene: 79155 ENSG00000168884 UniProt: Q8NFZ5

TNIP2 encodes a protein that inhibits NF-kappa-B activation and regulates MAP/ERK signaling pathways during innate immune responses, while also promoting endothelial cell survival. Mutations cause autosomal dominant autoinflammatory disease with immunodeficiency, presenting with recurrent infections, inflammatory episodes, and potential endothelial dysfunction. The gene shows low constraint to loss-of-function variants (pLI 0.002, LOEUF 0.74), suggesting tolerance to protein-truncating mutations.

ResearchSummary from RefSeq, UniProt

This gene encodes a protein which acts as an inhibitor of NFkappaB activation. The encoded protein is also involved in MAP/ERK signaling pathway in specific cell types. It may be involved in apoptosis of endothelial cells. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome.[provided by RefSeq, May 2014]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.74

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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