KLF3

Chr 4

KLF transcription factor 3

Also known as: BKLF

NCBI Gene: 51274ENSG00000109787UniProt: P57682OMIM: 609392

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
28
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.43
LOEUF
LOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.43LOEUF
pLI 0.830
Z-score 3.06
OE 0.14 (0.06–0.43)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.55Z-score
OE missense 0.70 (0.61–0.80)
148 obs / 211.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.14 (0.06–0.43)
0≤0.351.4
Missense OE?0.70 (0.61–0.80)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 2 / 14.6Missense obs/exp: 148 / 211.7Syn Z: -0.12

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KLF3 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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