FOXK2
Chr 17forkhead box K2
Also known as: ILF, ILF-1, ILF1, nGTBP
The protein functions as a transcriptional regulator that binds to specific DNA sequences and controls glucose metabolism, aerobic glycolysis, autophagy, and WNT/beta-catenin signaling pathways. Based on the provided information, no specific diseases or inheritance patterns associated with FOXK2 mutations are documented, and the low pLI score (0.025) suggests the gene is relatively tolerant to loss-of-function variants.
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 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
231 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 18 | 0 | 18 |
Likely Pathogenic | 0 | 0 | 4 | 0 | 4 |
VUS | 0 | 116 | 26 | 0 | 142 |
Likely Benign | 2 | 6 | 5 | 8 | 21 |
Benign | 1 | 2 | 3 | 8 | 14 |
| Total | 3 | 124 | 56 | 16 | 199 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FOXK2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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