KLF14

Chr 7

KLF transcription factor 14

Also known as: BTEB5

NCBI Gene: 136259ENSG00000266265UniProt: Q8TD94

This intronless gene encodes a member of the Kruppel-like family of transcription factors. The encoded protein functions as a transcriptional co-repressor, and is induced by transforming growth factor-beta (TGF-beta) to repress TGF-beta receptor II gene expression. This gene exhibits imprinted expression from the maternal allele in embryonic and extra-embryonic tissues. [provided by RefSeq, Jul 2013]

93
ClinVar variants
23
Pathogenic / LP
0.02
pLI score
0
Active trials
Clinical Summary— KLF14
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.02) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
23 Pathogenic / Likely Pathogenic· 69 VUS of 93 total submissions
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?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.58LOEUF
pLI 0.016
Z-score 0.69
OE 0.65 (0.29–1.58)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.35Z-score
OE missense 1.08 (0.95–1.23)
166 obs / 153.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.65 (0.29–1.58)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.08 (0.95–1.23)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.30
0≤1.21.6
LoF obs/exp: 3 / 4.6Missense obs/exp: 166 / 153.9Syn Z: -1.97

ClinVar Variant Classifications

93 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic22
Likely Pathogenic1
VUS69
Likely Benign1
22
Pathogenic
1
Likely Pathogenic
69
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
22
0
22
Likely Pathogenic
0
0
1
0
1
VUS
0
61
8
0
69
Likely Benign
0
0
1
0
1
Benign
0
0
0
0
0
Total06132093

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

View in ClinVar →

Protein Context — Lollipop Plot

KLF14 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Chromatin Remodeling in Patient-Derived Colorectal Cancer Models.
Xiang K et al.·Adv Sci (Weinh)
2024Functional
Differential Genetic and Epigenetic Effects of the KLF14 Gene on Body Shape Indices and Metabolic Traits.
Wu S et al.·Int J Mol Sci
2022
Biochemical association of regulatory variant of KLF14 genotype in the pathogenesis of cardiodiabetic patients.
Alanazi AS et al.·Front Endocrinol (Lausanne)
2023Cohort
The KLF14 Variant is Associated with Type 2 Diabetes and HbA(1C) Level.
Shahvazian E et al.·Biochem Genet
2021Clinical trial
Perhexiline activates KLF14 and reduces atherosclerosis by modulating ApoA-I production.
Guo Y et al.·J Clin Invest
2015
Potential Association of The Pathogenic Kruppel-like Factor 14 (KLF14) and Adiponectin (ADIPOQ) SNVs with Susceptibility to T2DM.
Elfaki I et al.·Endocr Metab Immune Disord Drug Targets
2024
HDL Cholesterol Metabolism and the Risk of CHD: New Insights from Human Genetics.
Vitali C et al.·Curr Cardiol Rep
2017Review
Krüppel-Like Factors Modulate Susceptibility To Neuropsychiatric Disorders.
Valenzuela-Ahumada LA et al.·Mol Neurobiol
2025Review
Association of KLF14 rs4731702 gene polymorphism with metabolic phenotype in young patients with type 1 diabetes.
Ryba-Stanisławowska M et al.·Diabetes Obes Metab
2024Cohort
Genome-wide association study validation identifies novel loci for atherosclerotic cardiovascular disease.
Chen X et al.·J Thromb Haemost
2012Meta-analysis
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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