NLRC3
Chr 16NLR family CARD domain containing 3
Also known as: CLR16.2, NOD3
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
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
NLRC3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools