KLF10
Chr 8KLF transcription factor 10
Also known as: EGR-alpha, EGRA, TIEG, TIEG1
KLF10 encodes a transcriptional repressor containing zinc finger domains that regulates circadian clock genes and metabolic pathways including gluconeogenesis and glycolysis. Mutations cause autosomal dominant early-onset severe obesity due to hyperphagia, as described in GeneReviews. The gene is not highly constrained against loss-of-function variants, with metabolic dysfunction being the primary clinical manifestation.
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
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
200 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 | 1 | 0 | 1 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 5 | 116 | 5 | 2 | 128 |
Likely Benign | 0 | 0 | 13 | 49 | 62 |
Benign | 0 | 1 | 0 | 0 | 1 |
| Total | 5 | 117 | 19 | 51 | 192 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
KLF10 · 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