KLF4 (Krueppel-like factor 4) variants and mutations
KLF4 (also known as Krueppel-like factor 4) is a human protein-coding gene encoding a krueppel-like factor 4 protein. It regulates transcriptional programs controlling epithelial differentiation, stem-cell state, cell-cycle arrest, and tissue homeostasis. Depending on cellular context it can act as a tumor suppressor or oncogenic factor, and it is one of the classic factors capable of reprogramming somatic cells to pluripotency. This analysis covers 7 KLF4 variants and mutations. Of these, 29% have computational variant effect predictions. Disease context includes neurodegenerative disease, prostate carcinoma, and breast carcinoma. Example KLF4 variants include G85S, S143A, and G174E.
Variant analysis overview
- Gene: KLF4
- Protein: Krueppel-like factor 4
- UniProt accession: O43474
- Organism: Homo sapiens
- Variants analyzed: 7
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 2 unspecified-consequence records; 5 substitution
- Prediction scores: 2 variants have prediction scores (29% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: neurodegenerative disease, prostate carcinoma, breast carcinoma, osteoarthritis, hip, cutaneous melanoma, meningioma, Secretory Meningioma, Angiomatous Meningioma, Transitional Meningioma, Chordoid Meningioma, Meningothelial Meningioma, Atypical Meningioma.
Protein structure and variant hotspots
- Protein features: 2 post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable KLF4 variants
Examples include G85S, S143A, G174E, N296K, T315S, L321F, T429A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- G85S (p.Gly85Ser), rs781329720, []
- S143A (p.Ser143Ala), rs866313112, []
- G174E (p.Gly174Glu), rs780704509, []
- N296K (p.Asn296Lys), rs776890156, []
- T315S (p.Thr315Ser), rs1059913, UniProt VAR 059888, AlphaMissense 0.18, MetaLR 0.01
- L321F (p.Leu321Phe), rs1059914, UniProt VAR 059889, REVEL 0.07, MetaLR 0.01
- T429A (p.Thr429Ala), rs780230472, []
Public KLF4 analysis runs
- KLF4 analysis run — KLF4 (7 variants) — completed 2026-08-19