BARHL2 Gene - BARX Homeobox 2
Key regulator of neuronal development and potential tumor suppressor
Gene Information Card
| Symbol | BARHL2 |
|---|---|
| Full Name | BarH-like homeobox 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p22.1 |
| NCBI Gene ID | 343472 ncbi.nlm.nih.gov/gene/343472 |
| Ensembl ID | ENSG00000143032 |
| UniProt ID | Q9NY43 |
| OMIM ID | 607923 |
| HGNC ID | 956 |
| Aliases | BARX2, BARH2, MGC138207 |
Description
BARHL2 (BarH-like homeobox 2) is a protein-coding gene that encodes a homeodomain transcription factor involved in neuronal development, particularly in the hindbrain and spinal cord. It regulates cell differentiation and migration during embryogenesis. BARHL2 has also been implicated in tumor suppression, with evidence of downregulation in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Medulloblastoma | Potential tumor suppressor; loss of expression may contribute to tumorigenesis | PMID: 23431141 |
| Colorectal cancer | Downregulation of BARHL2 associated with poor prognosis | PMID: 25686878 |
| Hirschsprung disease | BARHL2 variants may affect neural crest cell migration | PMID: 20673836 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 0.0 | Not detected |
| Cerebellum | 0.0 | Not detected |
| Spinal cord | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.0 | No detectable expression |
| HeLa | 0.0 | No detectable expression |
| K562 | 0.0 | No detectable expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown |
| c.100C>T | missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • sequence-specific DNA binding |
| • regulation of transcription by RNA polymerase II | • nervous system development |
| • cell differentiation |
Pathways
• Neural crest differentiation
• Hindbrain development
Protein Summary
The BARHL2 protein is a 337-amino acid homeodomain transcription factor that binds DNA via its helix-turn-helix motif. It regulates gene expression critical for neuronal specification and migration. The protein is predominantly nuclear and interacts with co-repressors to modulate target genes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BARHL2 Knockout HEK293 Cell Line | EDJ-KQ12514 | Human | 343472 | Details Get a Quote |
| BARHL2 Knockout HeLa Cell Line | EDJ-KQ59756 | Human | 343472 | Details Get a Quote |
| BARHL2 Knockout A-549 Cell Line | EDJ-KQ68225 | Human | 343472 | Details Get a Quote |
| BARHL2 Knockout HCT 116 Cell Line | EDJ-KQ76601 | Human | 343472 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
