OVOL1

Chr 11

ovo like transcriptional repressor 1

Also known as: HOVO1

NCBI Gene: 5017ENSG00000172818UniProt: O14753

This gene encodes a putative zinc finger containing transcription factor that is highly similar to homologous protein in Drosophila and mouse. Based on known functions in these species, this protein is likely involved in hair formation and spermatogenesis in human as well. [provided by RefSeq, Aug 2011]

53
ClinVar variants
10
Pathogenic / LP
0.88
pLI score
0
Active trials
Clinical Summary— OVOL1
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.88) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
10 Pathogenic / Likely Pathogenic· 37 VUS of 53 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
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.
0.42LOEUF
pLI 0.878
Z-score 2.83
OE 0.09 (0.03–0.42)
Moderately constrained

More LoF-intolerant than ~75% 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.
1.37Z-score
OE missense 0.70 (0.60–0.82)
116 obs / 165.7 exp
Tolerant

Mild missense constraint

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.0.09 (0.03–0.42)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.70 (0.60–0.82)
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.0.92
0≤1.21.6
LoF obs/exp: 1 / 11.2Missense obs/exp: 116 / 165.7Syn Z: 0.55

ClinVar Variant Classifications

53 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic8
Likely Pathogenic2
VUS37
Likely Benign4
8
Pathogenic
2
Likely Pathogenic
37
VUS
4
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
2
0
2
VUS
0
32
5
0
37
Likely Benign
0
3
0
1
4
Benign
0
0
0
0
0
Total03515151

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

View in ClinVar →

Protein Context — Lollipop Plot

OVOL1 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
OVO-LIKE 1; OVOL1
MIM #602313 · *
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
The AhR-Ovol1-Id1 regulatory axis in keratinocytes promotes epidermal and immune homeostasis in atopic dermatitis-like skin inflammation.
Chen Z et al.·Cell Mol Immunol
2025
Evaluation of OVOL1 and Filaggrin immunohistochemical expression and clinical relevance in psoriasis.
Hemida AS et al.·Diagn Pathol
2024
Re-epithelialization of cancer cells increases autophagy and DNA damage: Implications for breast cancer dormancy and relapse.
Drago-Garcia D et al.·Sci Signal
2025
Potential role of the OVOL1-OVOL2 axis and c-Myc in the progression of cutaneous squamous cell carcinoma.
Ito T et al.·Mod Pathol
2017
Ovol2 promoter mutations in mice and human illuminate species-specific phenotypic divergence.
Sunny SS et al.·Hum Mol Genet
2024
Meta-analysis identifies seven susceptibility loci involved in the atopic march.
Marenholz I et al.·Nat Commun
2015Meta-analysis
Lysine lactylation (Kla) might be a novel therapeutic target for breast cancer.
Deng J et al.·BMC Med Genomics
2023
TRIM58/cg26157385 methylation is associated with eight prognostic genes in lung squamous cell carcinoma.
Zhang W et al.·Oncol Rep
2018
Identification and validation of biomarkers related to centrosome replication in ulcerative colitis based on bulk transcriptome, single-cell RNA sequencing and experiments.
Yang Z et al.·Front Immunol
2025
Comprehensive DNA methylation study identifies novel progression-related and prognostic markers for cutaneous melanoma.
Wouters J et al.·BMC Med
2017
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