KLF7

Chr 2

KLF transcription factor 7

Also known as: UKLF

NCBI Gene: 8609ENSG00000118263UniProt: O75840

The protein encoded by this gene is a member of the Kruppel-like transcriptional regulator family. Members in this family regulate cell proliferation, differentiation and survival and contain three C2H2 zinc fingers at the C-terminus that mediate binding to GC-rich sites. This protein may contribute to the progression of type 2 diabetes by inhibiting insulin expression and secretion in pancreatic beta-cells and by deregulating adipocytokine secretion in adipocytes. A pseudogene of this gene is located on the long arm of chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

100
ClinVar variants
28
Pathogenic / LP
0.98
pLI score· haploinsufficient
0
Active trials
Clinical Summary— KLF7
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.98). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
28 Pathogenic / Likely Pathogenic· 55 VUS of 100 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
LoF intolerant — likely haploinsufficient
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.
0.24LOEUF
pLI 0.982
Z-score 3.24
OE 0.00 (0.00–0.24)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

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.
2.30Z-score
OE missense 0.53 (0.45–0.63)
101 obs / 190.5 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

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.0.00 (0.00–0.24)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.53 (0.45–0.63)
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.1.14
0≤1.21.6
LoF obs/exp: 0 / 12.2Missense obs/exp: 101 / 190.5Syn Z: -1.01

ClinVar Variant Classifications

100 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic27
Likely Pathogenic1
VUS55
Likely Benign11
Benign5
Conflicting1
27
Pathogenic
1
Likely Pathogenic
55
VUS
11
Likely Benign
5
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
27
0
27
Likely Pathogenic
0
1
0
0
1
VUS
2
50
3
0
55
Likely Benign
0
8
0
3
11
Benign
0
1
1
3
5
Conflicting
—1
Total260316100

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

View in ClinVar →

Protein Context — Lollipop Plot

KLF7 · protein map & ClinVar variants

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

Gene2Phenotype Curations

KLF7-related developmental disorder

moderate
ADUndeterminedAltered Gene Product Structure
Dev. Disorders
G2P ↗
missense variantinframe deletioninframe insertion

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
KLF7 regulates super-enhancer-driven IGF2BP2 overexpression to promote the progression of head and neck squamous cell carcinoma.
Cai H et al.·J Exp Clin Cancer Res
2024
KLF7 is associated with poor prognosis and regulates migration and adhesion in tongue cancer.
Lyu J et al.·Oral Dis
2022
Expression and Clinical Significance of Serum Krüppel-Like Factor 7 (KLF7) in NSCLC Patients.
Song H et al.·Comput Math Methods Med
2022Cohort
2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency.
Brakta C et al.·J Clin Immunol
2024
KLF7 promotes neuroblastoma differentiation through the GTPase signaling pathway by upregulating neuroblast differentiation-associated protein AHNAKs and glycerophosphodiesterase GDPD5.
Qiao S et al.·FEBS J
2024
KLF7 promotes progression of Head and Neck Squamous Cell Carcinoma by remodeling tumor immune microenvironment.
Fan X et al.·Cancer Lett
2026Functional
Histone marks identify novel transcription factors that parse CAR-T subset-of-origin, clinical potential and expansion.
Fiorenza S et al.·Nat Commun
2024Clinical trial
KLF7 enhances the invasion and migration of colorectal cancer cells via the miR-139-5p/TPD52 axis.
Zhang J et al.·Cancer Biol Ther
2024
Correlation of TLR4 and KLF7 in Inflammation Induced by Obesity.
Wang C et al.·Inflammation
2017
Analysis of KLF7 and KLF5 transcription factors gene variants in coronary artery disease.
Akbari Kordkheyli V et al.·Rev Port Cardiol
2023
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