MEOX1
Chr 17ARmesenchyme homeobox 1
Also known as: KFS2, MOX1
This gene encodes a member of a subfamily of non-clustered, diverged, antennapedia-like homeobox-containing genes. The encoded protein may play a role in the molecular signaling network regulating somite development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Primary Disease Associations & Inheritance
Klippel-Feil syndrome 2MIM #214300
AR
152
ClinVar variants
16
Pathogenic / LP
0.00
pLI score
-0.3
Missense Z
1.27
LOEUF
0
Active trials
Clinical Summary— MEOX1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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ClinVar Variants
16 Pathogenic / Likely Pathogenic· 74 VUS of 152 total submissions
Some data sources returned errors (1)
ensembl: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
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.
1.27LOEUF
pLI 0.000
Z-score 0.97
OE 0.68 (0.38–1.27)
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.
-0.26Z-score
OE missense 1.06 (0.93–1.21)
155 obs / 146.1 exp
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.0.68 (0.38–1.27)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.06 (0.93–1.21)
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.1.05
0≤1.21.6
LoF obs/exp: 7 / 10.4Missense obs/exp: 155 / 146.1Syn Z: -0.28
ClinVar Variant Classifications
152 submitted variants in ClinVar
Classification Summary
Pathogenic12
Likely Pathogenic4
VUS74
Likely Benign48
Benign12
Conflicting2
12
Pathogenic
4
Likely Pathogenic
74
VUS
48
Likely Benign
12
Benign
2
Conflicting
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 1 | 1 | 10 | 0 | 12 |
Likely Pathogenic | 1 | 1 | 2 | 0 | 4 |
VUS | 1 | 59 | 13 | 1 | 74 |
Likely Benign | 1 | 10 | 11 | 26 | 48 |
Benign | 0 | 2 | 6 | 4 | 12 |
Conflicting | — | 2 | |||
| Total | 4 | 73 | 42 | 31 | 152 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MEOX1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
Gene2Phenotype Curations
MEOX1-related Klippel-Feil anomaly
strongGene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org
OMIM — Genotype-Phenotype Relationships
1 OMIM entry
MESENCHYME HOMEOBOX 1; MEOX1
MIM #600147 · *
Autosomal recessive
External Resources
Links to major genomics databases and tools
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
The role of MEOX1 in non-neoplastic and neoplastic diseases.
Zeng G et al.·Biomed Pharmacother
2023Review
miR-3154: Novel Pathogenic and Therapeutic Target in Abdominal Aortic Aneurysm.
Hou Q et al.·Circ Res
2025
MEOX1 Promotes Tumor Progression and Predicts Poor Prognosis in Human Non-Small-Cell Lung Cancer.
Sun L et al.·Int J Med Sci
2019
Mesoderm/mesenchyme homeobox l may promote tumor progression in human hepatocellular carcinoma.
Ruan J et al.·Adv Clin Exp Med
2024
Unraveling the molecular mechanisms of lymph node metastasis in ovarian cancer: focus on MEOX1.
Li J et al.·J Ovarian Res
2024Functional
Transcriptomic Profiling of Human Myocardium at Sudden Death to Define Vulnerable Substrate for Lethal Arrhythmias.
Caudal A et al.·JACC Clin Electrophysiol
2025
Mesenchyme homeobox 1 mediated-promotion of osteoblastic differentiation is negatively regulated by mir-3064-5p.
Huang M et al.·Differentiation
2021
Examining craniofacial variation among crispant and mutant zebrafish models of human skeletal diseases.
Diamond KM et al.·J Anat
2023Functional
Identification of PBX1 target genes in cancer cells by global mapping of PBX1 binding sites.
Thiaville MM et al.·PLoS One
2012
Expression quantitative trait loci for ETV4 and MEOX1 are associated with adult asthma in Japanese populations.
Yatagai Y et al.·Sci Rep
2021
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
DNA methylation-mediated silencing of MEOX1 promotes glycolysis and immune evasion in colorectal cancer cells through inhibition of GLP2R transcription.
Liang D et al.·Cell Biosci
2026
Meox1 Promotes Cardiac Fibrosis and Pathological Remodeling following Myocardial Infarction through Cthrc1/p-Smad2/3 Signaling.
Zhang M et al.·Int J Biol Sci
2026Open AccessFunctional
Organelle stresses and energetic metabolisms promote endothelial-to-mesenchymal transition and fibrosis via upregulating FOSB and MEOX1 in Alzheimer's disease.
Saaoud F et al.·Front Mol Neurosci
2025Open Access
Role of Meox1 in promoting lung tumor vascularization and impairing CD8+ T cell mediated immunity.
Yang D et al.·Front Oncol
2025Open Access
Transcription factor MEOX1 accelerates pulmonary fibrosis by regulating mitophagy and senescence.
Fang L et al.·Eur J Pharmacol
2025
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
Establishment of glioma prognosis nomogram based on the function of meox1 in promoting the progression of cancer.
Pan P et al.·Heliyon
2024
Spatio-temporal model of Meox1 expression control involvement of Sca-1-positive stem cells in neointima formation through the synergistic effect of Rho/CDC42 and SDF-1alpha/CXCR4
Wu Y et al.·Stem Cell Res Ther
2021Functional
MEOX1: a novel druggable target that orchestrates the activation of fibroblasts in cardiac fibrosis
Schumacher D et al.·Signal Transduct Target Ther
2021
Ailanthone ameliorates pulmonary fibrosis by suppressing JUN-dependent MEOX1 activation.
Zhao L et al.·Acta Pharm Sin B
2024
Expression and the pro-fibrotic effects of Mesenchyme homeobox 1 in patients with pterygium.
Li W et al.·Exp Eye Res
2025Cohort
MEOX1 triggers myofibroblast apoptosis resistance, contributing to pulmonary fibrosis in mice.
Jin L et al.·J Cell Physiol
2024
Top 7 full-text resultsSearch PubTator3 ↗
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools