BARX2: A Key Homeobox Transcription Factor in Development and Disease
Comprehensive genomic and functional analysis of BARX2, a homeobox gene implicated in craniofacial development, cancer, and tissue-specific gene regulation.
Gene Information Card
| Symbol | BARX2 |
|---|---|
| Full Name | BARX homeobox 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q24.3 |
| NCBI Gene ID | 8538 ncbi.nlm.nih.gov/gene/8538 |
| Ensembl ID | ENSG00000149257 |
| UniProt ID | Q9UMQ3 |
| OMIM ID | 604363 |
| HGNC ID | 956 |
| Aliases | BARX2a, BARX2b, MGC138499 |
Description
BARX2 (BARX homeobox 2) is a homeobox-containing transcription factor that plays a critical role in embryonic development, particularly in craniofacial and limb morphogenesis. It regulates cell adhesion, migration, and differentiation by modulating genes such as cadherins and matrix metalloproteinases. BARX2 is also implicated in cancer progression, where its expression is often dysregulated in breast, ovarian, and prostate cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Craniofacial abnormalities | BARX2 regulates neural crest cell migration and craniofacial patterning; mutations may disrupt development. | OMIM #604363; animal models |
| Breast cancer | BARX2 expression is reduced in invasive breast cancer; loss promotes epithelial-mesenchymal transition (EMT). | PubMed studies; COSMIC |
| Ovarian cancer | BARX2 downregulation correlates with poor prognosis and increased metastasis. | ClinVar; PubMed |
| Prostate cancer | BARX2 acts as a tumor suppressor; hypermethylation silences expression. | COSMIC; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 2.1 | Low |
| Heart | 1.8 | Low |
| Kidney | 3.5 | Medium |
| Liver | 1.2 | Low |
| Lung | 4.0 | Medium |
| Mammary gland | 5.2 | Medium |
| Ovary | 6.8 | High |
| Prostate | 4.5 | Medium |
| Skin | 3.0 | Medium |
| Testis | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 3.8 | Moderate expression |
| OVCAR3 (ovarian cancer) | 5.1 | High expression |
| PC3 (prostate cancer) | 2.9 | Low expression |
| HEK293 (embryonic kidney) | 4.2 | Moderate expression |
| HeLa (cervical cancer) | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Potential loss of start codon; likely loss-of-function |
| c.214C>T (p.Arg72Trp) | Missense | <0.1% | May alter DNA-binding affinity |
| c.487_489del (p.Lys163del) | Deletion | <0.1% | In-frame deletion in homeodomain; likely damaging |
| c.631C>T (p.Arg211*) | Nonsense | <0.1% | Premature stop; loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg211*) lead to truncated protein; missense in homeodomain (e.g., p.Arg72Trp) reduce DNA binding.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in BARX2.
Dominant Negative (DN)
Not documented; BARX2 likely acts as a monomer, so dominant-negative effects are not typical.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Regulation of epithelial-mesenchymal transition (EMT)
• Cadherin signaling pathway
• Neural crest cell migration
• Wnt signaling pathway (modulation)
Protein Summary
BARX2 is a 263-amino acid homeobox transcription factor containing a conserved DNA-binding homeodomain. It localizes to the nucleus and binds to specific promoter sequences to regulate genes involved in cell adhesion (e.g., CDH1/E-cadherin), migration, and differentiation. The protein is expressed in developing craniofacial structures, limbs, and adult tissues such as ovary and prostate. Dysregulation of BARX2 contributes to cancer metastasis and developmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BARX2 Knockout HEK293 Cell Line | EDJ-KQ6288 | Human | 8538 | Details Get a Quote |
| BARX2 Knockout HeLa Cell Line | EDJ-KQ54936 | Human | 8538 | Details Get a Quote |
| BARX2 Knockout A-549 Cell Line | EDJ-KQ63421 | Human | 8538 | Details Get a Quote |
| BARX2 Knockout HCT 116 Cell Line | EDJ-KQ71886 | Human | 8538 | Details Get a Quote |
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