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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MEOX1
mesenchyme homeobox 1
Chromosome 17 · 17q21.31
NCBI Gene: 4222Ensembl: ENSG00000005102.15HGNC: HGNC:7013UniProt: P50221
44PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sequence-specific double-stranded DNA bindingprotein bindingsclerotome developmentnucleusKlippel-Feil syndrome 2, autosomal recessiveCervical C2/C3 vertebral fusionKlippel-Feil syndromeisolated Klippel-Feil syndrome
✦AI Summary

MEOX1 (mesenchyme homeobox 1) is a mesodermal transcription factor with dual roles in developmental and pathological contexts. Developmentally, MEOX1 is required for somitogenesis and sclerotome development, maintaining sclerotome polarity and enabling cranio-cervical joint formation 1. It regulates hematopoietic stem cell induction through endotome specification within somites 2. In disease contexts, MEOX1 has emerged as a critical regulator of pathological fibroblast activation. During cardiac stress, IL-1β signaling activates a RELA-dependent enhancer near MEOX1, driving fibroblast activation and profibrotic responses 3. MEOX1 acts as a transcriptional switch controlling the quiescent-to-activated fibroblast transition, with dynamic regulation correlating with cardiac function 4. This mechanism extends beyond cardiac tissue—MEOX1 upregulation occurs in lung, liver, and kidney fibroblasts 4, and MEOX1 is identified as a key gene in cardiac fibroblast activation during hypertrophic cardiomyopathy 1. In neoplastic settings, MEOX1 promotes tumor progression. High MEOX1 expression correlates with lymph node metastasis, advanced stage, and poor prognosis in non-small-cell lung cancer 5. In intrahepatic cholangiocarcinoma, MEOX1 overexpression reprograms regulatory T cells to an immunosuppressive tumor-infiltrating phenotype associated with poor outcomes 6. MEOX1 silencing inhibits prostate cancer cell proliferation while promoting apoptosis 7. These findings position MEOX1 as a therapeutic target in fibrotic and neoplastic diseases.

Sources cited
1
MEOX1 identified as key gene in cardiac fibroblast activation during hypertrophic cardiomyopathy; upregulation associated with cardiac fibrosis
PMID: 36646705
2
MEOX1 plays significant role in somite development regulation; expression upregulated during disease progression with roles in cell differentiation and senescence
PMID: 36495659
3
IL-1β activates RELA-dependent enhancer near MEOX1, resulting in profibrotic fibroblast response; IL-1β inhibition prevents stress-induced Meox1 expression
PMID: 39443808
4
MEOX1 acts as transcriptional switch in fibroblast activation; dynamically regulated by BET proteins; required for TGFβ-induced fibroblast activation; upregulated in lung, liver, kidney fibroblasts
PMID: 34163071
5
High MEOX1 expression correlates with lymph node metastasis, advanced stage, and poor prognosis in non-small-cell lung cancer; MEOX1 silencing inhibits cell proliferation
PMID: 30662330
6
MEOX1 highly enriched in tumor-infiltrating Tregs; MEOX1 overexpression reprograms circulating Tregs to acquire tumor-infiltrating phenotype; associated with poor prognosis in intrahepatic cholangiocarcinoma
PMID: 35738508
7
MEOX1 highly expressed in prostate cancer tissues; MEOX1 silencing inhibits proliferation and promotes apoptosis in LNCaP cells
PMID: 30543460
8
MEOX1 important for axial skeleton development; deletion in MEOX1 intergenic region associated with van Buchem disease
PMID: 12116252
Disease Associationsⓘ21
Klippel-Feil syndrome 2, autosomal recessiveOpen Targets
0.72Strong
Cervical C2/C3 vertebral fusionOpen Targets
0.46Moderate
Klippel-Feil syndromeOpen Targets
0.38Weak
isolated Klippel-Feil syndromeOpen Targets
0.38Weak
Klippel-Feil syndrome 1, autosomal dominantOpen Targets
0.37Weak
cervical carcinomaOpen Targets
0.30Weak
mitral valve prolapseOpen Targets
0.27Weak
bone fractureOpen Targets
0.25Weak
Dupuytren ContractureOpen Targets
0.25Weak
upper extremity fractureOpen Targets
0.24Weak
celiac diseaseOpen Targets
0.21Weak
genetic disorderOpen Targets
0.19Weak
neoplasmOpen Targets
0.09Suggestive
spondylocostal dysostosis 2, autosomal recessiveOpen Targets
0.08Suggestive
autosomal recessive spondylocostal dysostosisOpen Targets
0.08Suggestive
ovarian cancerOpen Targets
0.08Suggestive
myocardial infarctionOpen Targets
0.08Suggestive
acute myocardial infarctionOpen Targets
0.07Suggestive
COVID-19–associated multisystem inflammatory syndrome in adultsOpen Targets
0.07Suggestive
aortic stenosisOpen Targets
0.07Suggestive
Klippel-Feil syndrome 2, autosomal recessiveUniProt
Pathogenic Variants7
NM_004527.4(MEOX1):c.282G>A (p.Trp94Ter)Pathogenic
not provided|Klippel-Feil syndrome 2, autosomal recessive
★★☆☆2024→ Residue 94
NM_004527.4(MEOX1):c.44_50dup (p.Val18fs)Pathogenic
not provided
★☆☆☆2024→ Residue 18
NM_004527.4(MEOX1):c.514C>T (p.Arg172Cys)Likely pathogenic
Klippel-Feil syndrome 2, autosomal recessive
★☆☆☆2024→ Residue 172
NM_004527.4(MEOX1):c.94del (p.Ala32fs)Likely pathogenic
Klippel-Feil syndrome 2, autosomal recessive
★☆☆☆2024→ Residue 32
NM_004527.4(MEOX1):c.268C>T (p.Gln90Ter)Likely pathogenic
Klippel-Feil syndrome 2, autosomal recessive
★☆☆☆2023→ Residue 90
NM_004527.4(MEOX1):c.250C>T (p.Gln84Ter)Pathogenic
Klippel-Feil syndrome 2, autosomal recessive
☆☆☆☆2013→ Residue 84
NM_004527.4(MEOX1):c.664C>T (p.Arg222Ter)Pathogenic
Klippel-Feil syndrome 2, autosomal recessive
☆☆☆☆2013→ Residue 222
View on ClinVar ↗
Related Genes
PAX1Protein interaction86%KRT24Protein interaction83%SOSTProtein interaction81%TBX6Protein interaction77%EYA2Protein interaction75%SIX1Protein interaction71%
Tissue Expression6 tissues
Heart
100%
Lung
2%
Ovary
1%
Brain
0%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
MEOX1PAX1KRT24SOSTTBX6EYA2SIX1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P50221
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.14LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.75 [0.51–1.14]
RankingsWhere MEOX1 stands among ~20K protein-coding genes
  • #9,616of 20,598
    Most Researched44
  • #3,226of 5,498
    Most Pathogenic Variants7
  • #11,862of 17,882
    Most Constrained (LOEUF)1.14
Genes detectedMEOX1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Chromatin remodelling drives immune cell-fibroblast communication in heart failure.
PMID: 39443808
Nature · 2024
1.00
2
A transcriptional switch governs fibroblast activation in heart disease.
PMID: 34163071
Nature · 2021
0.90
3
Lineage-specific regulatory changes in hypertrophic cardiomyopathy unraveled by single-nucleus RNA-seq and spatial transcriptomics.
PMID: 36646705
Cell Discov · 2023
0.80
4
Multimodal single-cell profiling of intrahepatic cholangiocarcinoma defines hyperactivated Tregs as a potential therapeutic target.
PMID: 35738508
J Hepatol · 2022
0.70
5
The role of MEOX1 in non-neoplastic and neoplastic diseases.
PMID: 36495659
Biomed Pharmacother · 2023
0.60