KLF17

Chr 1

KLF transcription factor 17

Also known as: ZLF393, ZNF393, Zfp393

NCBI Gene: 128209ENSG00000171872UniProt: Q5JT82OMIM: 609602

KLF17 encodes a transcription repressor that binds to specific DNA sequences in gene promoters to prevent their expression, particularly acting as a negative regulator of epithelial-mesenchymal transition and playing roles in germ cell development. The gene shows very low constraint against loss-of-function variants (pLI near 0, LOEUF 1.36), suggesting tolerance to such mutations. Currently, no definitive human disease associations have been established for KLF17 mutations.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 1.36
Clinical Summary— KLF17
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
9 unique Pathogenic / Likely Pathogenic· 70 VUS of 91 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.36LOEUF
pLI 0.000
Z-score 0.49
OE 0.87 (0.57–1.36)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.12Z-score
OE missense 1.02 (0.92–1.14)
239 obs / 233.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.87 (0.57–1.36)
0≤0.351.4
Missense OE1.02 (0.92–1.14)
0≤0.61.4
Synonymous OE1.05
0≤1.21.6
LoF obs/exp: 14 / 16.1Missense obs/exp: 239 / 233.6Syn Z: -0.37

ClinVar Variant Classifications

91 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic8
Likely Pathogenic1
VUS70
Likely Benign10
8
Pathogenic
1
Likely Pathogenic
70
VUS
10
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
8
0
8
Likely Pathogenic
0
0
1
0
1
VUS
0
64
6
0
70
Likely Benign
0
10
0
0
10
Benign
0
0
0
0
0
Total07415089

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

KLF17 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Novel EPS15 :: KLF17 and EPS15L1 :: KLF17 Fusions Define a Distinctive Group of MUC4-Positive Spindled to Epithelioid Sarcomas.
Malik F et al.·Am J Surg Pathol
2026
Pseudoglandular Schwannoma With FUS::KLF17 Fusion: Broadening the Spectrum of FUS-Associated Tumors.
Givi J et al.·Genes Chromosomes Cancer
2025Open Access
Maternal KLF17 controls zygotic genome activation by acting as a messenger for RNA Pol II recruitment in mouse embryos.
Hu Y et al.·Dev Cell
2024Functional
KLF17 is an important regulatory component of the transcriptomic response of Atlantic salmon macrophages to Piscirickettsia salmonis infection.
Pérez-Stuardo D et al.·Front Immunol
2023Open Access
Anti-oncogenic mechanism of KLF17 in colon cancer by repressing cell migration and invasion via FHL1 upregulation.
Yi S et al.·Chin J Physiol
2023Functional
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients