KLF12
Chr 13KLF transcription factor 12
Also known as: AP-2rep, AP2REP, HSPC122
The protein is a transcriptional repressor that belongs to the Kruppel-like zinc finger family and specifically represses AP-2 alpha gene expression by binding to its promoter. This gene is highly constrained against loss-of-function variants (pLI 0.98, LOEUF 0.29), indicating that mutations are likely to cause severe developmental consequences. However, no specific Mendelian diseases have been definitively associated with KLF12 mutations in current clinical databases.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% 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
136 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 | 69 | 0 | 69 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 46 | 11 | 0 | 57 |
Likely Benign | 0 | 0 | 1 | 0 | 1 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 46 | 81 | 0 | 127 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
KLF12 · 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