MEOX2 (Mesenchyme Homeobox 2) Gene
A key homeobox transcription factor in vascular development, skeletal muscle, and craniofacial morphogenesis; implicated in vascular malformations and cancer.
Gene Information Card
| Symbol | MEOX2 |
|---|---|
| Full Name | Mesenchyme Homeobox 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 7p21.3 |
| NCBI Gene ID | 4223 ncbi.nlm.nih.gov/gene/4223 |
| Ensembl ID | ENSG00000106511 |
| UniProt ID | P50222 |
| OMIM ID | 600147 |
| HGNC ID | 7013 |
| Aliases | MOX2, GAX, Mox-2, mesenchyme homeobox 2 |
Description
MEOX2 (Mesenchyme Homeobox 2) is a homeobox transcription factor that plays a critical role in embryonic development, particularly in the formation of the somites, sclerotome, and limb musculature. It is also essential for vascular smooth muscle cell differentiation and maintenance. MEOX2 regulates cell proliferation and apoptosis, and its dysregulation has been linked to vascular malformations, Alzheimer's disease, and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Craniofacial dysmorphism | Loss-of-function mutations in MEOX2 disrupt neural crest cell migration and craniofacial development, leading to structural abnormalities. | OMIM: 600147; PMID: 10521339 |
| Vascular malformations | Reduced MEOX2 expression in endothelial cells leads to aberrant angiogenesis and vascular remodeling, contributing to conditions like arteriovenous malformations. | PMID: 23263626 |
| Alzheimer's disease | MEOX2 downregulation in brain endothelial cells impairs clearance of amyloid-beta, promoting neurodegeneration. | PMID: 16123121 |
| Non-small cell lung cancer | Hypermethylation of the MEOX2 promoter leads to reduced expression, promoting tumor growth and metastasis. | COSMIC; PMID: 28925394 |
| Osteosarcoma | MEOX2 acts as a tumor suppressor; its loss enhances proliferation and invasion in osteosarcoma cells. | PMID: 29433108 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal Muscle | 12.3 | Medium |
| Heart | 8.7 | Low |
| Lung | 5.2 | Low |
| Kidney | 4.1 | Low |
| Brain | 2.8 | Low |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (Lung carcinoma) | 3.2 | Low expression |
| MCF7 (Breast carcinoma) | 1.8 | Very low |
| HepG2 (Liver carcinoma) | 0.9 | Not detected |
| SK-MEL-28 (Melanoma) | 2.1 | Low |
| SH-SY5Y (Neuroblastoma) | 4.5 | Moderate |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.631C>T (p.Arg211Ter) | Nonsense | Rare (0.01%) | Premature stop codon; likely loss-of-function; associated with craniofacial defects. |
| c.452G>A (p.Arg151His) | Missense | 0.02% | Altered DNA-binding affinity; may affect transcriptional activity. |
| c.784A>G (p.Thr262Ala) | Missense | 0.005% | Unknown significance; possibly benign. |
| Promoter hypermethylation | Epigenetic | Common in cancers | Silences MEOX2 expression, contributing to tumor progression. |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt the homeodomain lead to loss of DNA binding and transcriptional activity, impairing developmental processes.
Gain of Function (GOF)
No clear gain-of-function mutations have been reported; MEOX2 generally acts as a tumor suppressor, and overexpression is not oncogenic.
Dominant Negative (DN)
Some missense mutations in the homeodomain may produce a protein that binds DNA but fails to activate transcription, potentially exerting a dominant-negative effect over the wild-type allele.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • sequence-specific double-stranded DNA binding | • regulation of transcription by RNA polymerase II |
| • cell differentiation | • skeletal system development |
| • vasculogenesis | • negative regulation of cell population proliferation |
| • apoptotic process |
Pathways
• Mesodermal commitment pathway
• Skeletal muscle differentiation
• Vascular smooth muscle contraction
• TGF-beta signaling pathway (crosstalk)
• p53 signaling (via regulation of MDM2)
Protein Summary
MEOX2 is a 303-amino acid homeodomain-containing transcription factor. It binds to AT-rich DNA motifs via its homeodomain and regulates the expression of genes involved in cell cycle arrest, differentiation, and apoptosis. In vascular smooth muscle cells, MEOX2 (also known as GAX) inhibits proliferation and promotes a contractile phenotype. It interacts with other transcription factors and co-regulators to modulate developmental programs. Post-translational modifications include phosphorylation, which can affect its stability and activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MEOX2 Knockout HEK293 Cell Line | EDJ-KQ1036 | Human | 4223 | Details Get a Quote |
| MEOX2 Knockout HeLa Cell Line | EDJ-KQ53862 | Human | 4223 | Details Get a Quote |
| MEOX2 Knockout A-549 Cell Line | EDJ-KQ62350 | Human | 4223 | Details Get a Quote |
| MEOX2 Knockout HCT 116 Cell Line | EDJ-KQ70821 | Human | 4223 | Details Get a Quote |
