NLRC3

Chr 16

NLR family CARD domain containing 3

Also known as: CLR16.2, NOD3

NCBI Gene: 197358 ENSG00000167984 UniProt: Q7RTR2

The protein encoded by this gene is a cytosolic negative regulator of innate immune responses that attenuates Toll-like receptor and STING signaling pathways and inhibits the PI3K-AKT-mTOR pathway to control cell proliferation. Mutations cause autosomal recessive autoinflammatory disease with immunodeficiency. The gene shows tolerance to loss-of-function variation (LOEUF 1.243), suggesting that complete loss of protein function may be required for disease manifestation.

ResearchSummary from RefSeq, UniProt

This gene encodes a NOD-like receptor family member. The encoded protein is a cytosolic regulator of innate immunity. This protein directly interacts with stimulator of interferon genes (STING), to prevent its proper trafficking, resulting in disruption of STING-dependent activation of the innate immune response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.24

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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