NFIL3
Chr 9nuclear factor, interleukin 3 regulated
Also known as: E4BP4, IL3BP1, NF-IL3A, NFIL3A
The encoded protein is a transcriptional regulator that binds to activating transcription factor (ATF) sites in cellular and viral promoters and negatively regulates circadian rhythm by repressing PER1 and PER2 expression. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability, developmental delay, and seizures, with some patients showing sleep disturbances consistent with the gene's role in circadian regulation. The gene is highly constrained against loss-of-function variants (pLI 0.82, LOEUF 0.44), indicating that such variants are likely pathogenic.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NFIL3 · 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