BSX (Brain-Specific Homeobox)
Homeobox transcription factor involved in brain development and energy homeostasis
Gene Information Card
| Symbol | BSX |
|---|---|
| Full Name | Brain-specific homeobox |
| Gene Type | Protein-coding |
| Chromosomal Location | 11q24.1 |
| NCBI Gene ID | 646982 ncbi.nlm.nih.gov/gene/646982 |
| Ensembl ID | ENSG00000188906 |
| UniProt ID | Q3C1V1 |
| OMIM ID | 611497 |
| HGNC ID | 37261 |
| Aliases | BSX1, homeobox BSX |
Description
BSX (brain-specific homeobox) encodes a homeodomain-containing transcription factor that is predominantly expressed in the developing and adult brain, particularly in the hypothalamus. It plays a critical role in the regulation of energy homeostasis, feeding behavior, and body weight. BSX is involved in the transcriptional control of neuropeptides such as AgRP and NPY, and its dysfunction has been linked to obesity and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | BSX regulates AgRP/NPY expression in the hypothalamus; loss-of-function leads to altered energy balance | PMID: 19037247 |
| Metabolic syndrome | BSX variants associated with body mass index and insulin resistance | GWAS Catalog |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Hypothalamus | 18.3 | High |
| Pituitary gland | 8.1 | Low |
| Testis | 2.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 5.2 | Neuroblastoma cell line |
| SK-N-SH | 4.8 | Neuroblastoma cell line |
| HEK293 | 0.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.427C>T (p.Arg143Trp) | Missense | <0.01% | Unknown functional effect |
| c.520G>A (p.Gly174Ser) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Hypothesized for rare missense variants affecting DNA-binding domain
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • GO:0000978 (GO:0000978) | • GO:0000981 (GO:0000981) |
| • GO:0005634 (GO:0005634) | • GO:0006357 (GO:0006357) |
| • GO:0007275 (GO:0007275) | • GO:0045944 (GO:0045944) |
Pathways
• AgRP/NPY signaling in energy homeostasis
• Hypothalamic regulation of appetite
Protein Summary
The BSX protein is a 237-amino acid homeodomain transcription factor that localizes to the nucleus. It contains a conserved homeobox DNA-binding domain that recognizes specific promoter sequences. BSX is essential for the development and function of hypothalamic neurons that control feeding and energy expenditure. It directly activates the expression of AgRP and NPY, key orexigenic neuropeptides. BSX knockout mice exhibit reduced body weight and resistance to diet-induced obesity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BSX Knockout HEK293 Cell Line | EDJ-KQ12573 | Human | 390259 | Details Get a Quote |
| BSX Knockout HeLa Cell Line | EDJ-KQ60162 | Human | 390259 | Details Get a Quote |
| BSX Knockout A-549 Cell Line | EDJ-KQ68623 | Human | 390259 | Details Get a Quote |
| BSX Knockout HCT 116 Cell Line | EDJ-KQ76992 | Human | 390259 | Details Get a Quote |
