KLF17

Chr 1

KLF transcription factor 17

Also known as: ZLF393, ZNF393, Zfp393

NCBI Gene: 128209 ENSG00000171872 UniProt: Q5JT82

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.

ResearchSummary from RefSeq, UniProt

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to act upstream of or within gamete generation. Predicted to be located in chromatin. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

LOEUF 1.36

Clinical Summary— KLF17

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

64 VUS of 76 total submissions

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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

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 OE?0.87 (0.57–1.36)

0≤0.351.4

Missense OE?1.02 (0.92–1.14)

0≤0.61.4

Synonymous OE?1.05

0≤1.21.6

LoF obs/exp: 14 / 16.1Missense obs/exp: 239 / 233.6Syn Z: -0.37

ClinVar Variant Classifications

76 submitted variants in ClinVar

ClinVar

Classification Summary

VUS64

Likely Benign10

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	64	64
Likely Benign	10	10
Benign	0	0
Total	74	74

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

View in ClinVar →

9 pathogenic / likely-pathogenic (of 15) ClinVar copy-number / structural variants overlap KLF17 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →