BARX1: A Key Regulator in Craniofacial and Gastrointestinal Development
Comprehensive genomic and functional analysis of BARX1, a homeobox transcription factor implicated in developmental disorders and cancer.
Gene Information Card
| Symbol | BARX1 |
|---|---|
| Full Name | BarH-like homeobox 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q22.32 |
| NCBI Gene ID | 56033 ncbi.nlm.nih.gov/gene/56033 |
| Ensembl ID | ENSG00000131668 |
| UniProt ID | Q9HBR1 |
| OMIM ID | 603260 |
| HGNC ID | 955 |
| Aliases | BARX1A, BARX1B, BarH1, BarX1 |
Description
BARX1 (BarH-like homeobox 1) is a protein-coding gene that encodes a homeobox transcription factor. It plays a critical role in embryonic development, particularly in the formation of craniofacial structures, teeth, and the gastrointestinal tract. BARX1 regulates cell proliferation and differentiation by binding to specific DNA sequences. Mutations and altered expression of BARX1 are associated with developmental disorders and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Barx1-related craniofacial anomalies | Loss-of-function mutations disrupt craniofacial patterning, leading to malformations. | OMIM #603260; PMID: 11500398 |
| Gastric cancer | Downregulation of BARX1 in gastric epithelium is associated with intestinal metaplasia and tumor progression. | PMID: 20010872; COSMIC analysis |
| Colorectal cancer | Altered BARX1 expression contributes to Wnt/β-catenin pathway dysregulation in colorectal tumors. | PMID: 22962325; COSMIC analysis |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Stomach | 12.5 | Medium |
| Esophagus | 8.3 | Low |
| Small intestine | 6.1 | Low |
| Colon | 4.7 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MKN45 (gastric cancer) | 15.2 | High expression; associated with differentiation |
| AGS (gastric cancer) | 10.8 | Moderate expression |
| HT-29 (colorectal cancer) | 3.5 | Low expression |
| HEK293 (embryonic kidney) | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.502C>T (p.Arg168Trp) | Missense | <0.01% | Loss of DNA-binding activity; associated with craniofacial defects |
| c.631delG (p.Gly211Valfs*13) | Frameshift | <0.01% | Loss of function; truncation of homeodomain |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of translation initiation; likely null allele |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations in the homeodomain reduce or abolish DNA binding and transcriptional activation, leading to haploinsufficiency in craniofacial development.
Gain of Function (GOF)
No documented gain-of-function mutations in BARX1; current evidence supports loss-of-function as the primary pathogenic mechanism.
Dominant Negative (DN)
No dominant-negative mutations reported for BARX1; heterozygous loss-of-function is associated with disease.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Wnt signaling pathway (Reactome: R-HSA-195721)
• Transcriptional regulation by BARX1 (PMID: 11500398)
• Craniofacial development (KEGG: hsa05200)
Protein Summary
BARX1 is a 251-amino acid homeobox transcription factor containing a conserved DNA-binding homeodomain. It localizes to the nucleus and regulates target gene expression involved in craniofacial and gastrointestinal development. The protein interacts with co-factors to modulate cell proliferation and differentiation. Structural integrity of the homeodomain is essential for function; mutations in this region impair DNA binding and lead to developmental defects.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BARX1 Knockout HEK293 Cell Line | EDJ-KQ12516 | Human | 56033 | Details Get a Quote |
| BARX1 Knockout A-549 Cell Line | EDJ-KQ40211 | Human | 56033 | Details Get a Quote |
| BARX1 Knockout HeLa Cell Line | EDJ-KQ41499 | Human | 56033 | Details Get a Quote |
| BARX1 Knockout HCT 116 Cell Line | EDJ-KQ73606 | Human | 56033 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
