BEX4: A Member of the Brain Expressed X-Linked Gene Family
Comprehensive genomic and functional overview of BEX4, a gene implicated in neurodevelopment and cancer.
Gene Information Card
| Symbol | BEX4 |
|---|---|
| Full Name | Brain Expressed X-Linked 4 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq22.2 |
| NCBI Gene ID | 56271 ncbi.nlm.nih.gov/gene/56271 |
| Ensembl ID | ENSG00000102054 |
| UniProt ID | Q9NWD9 |
| OMIM ID | 300690 |
| HGNC ID | 30870 |
| Aliases | BEXL1, BEX4, MGC117188 |
Description
BEX4 (Brain Expressed X-Linked 4) is a protein-coding gene located on the X chromosome. It belongs to the BEX gene family, which is characterized by brain-enriched expression and involvement in cell growth, differentiation, and apoptosis. BEX4 interacts with the NF-κB pathway and may modulate transcriptional regulation. The gene is implicated in neurodevelopmental processes and has been studied in the context of various cancers, including glioblastoma and breast cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glioblastoma | BEX4 downregulation may promote tumor growth through NF-κB pathway dysregulation. | COSMIC, NCBI Gene |
| Breast Cancer | Altered BEX4 expression observed; potential role in cell proliferation. | COSMIC, NCBI Gene |
| Neurodevelopmental Disorders | BEX4 is part of the BEX family linked to brain development; mutations may contribute to X-linked intellectual disability. | OMIM, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 4.1 | Low |
| Liver | 2.0 | Not detected |
| Kidney | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| U-87 MG (glioblastoma) | 15.2 | High expression |
| MCF7 (breast cancer) | 6.8 | Moderate expression |
| HEK293 (embryonic kidney) | 4.5 | Low expression |
| HepG2 (liver cancer) | 2.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.152C>T (p.Ser51Leu) | Missense | <0.1% | Unknown functional impact |
| c.89_90insA (p.Leu30fs) | Frameshift | <0.1% | Predicted loss of function |
| c.203G>A (p.Arg68His) | Missense | <0.1% | Reported in COSMIC; potential gain of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Leu30fs) are predicted to cause premature truncation and loss of BEX4 protein function.
Gain of Function (GOF)
Missense mutations such as p.Arg68His may alter protein interactions, potentially leading to aberrant signaling.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for BEX4.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • NF-κB binding |
| • cytoplasm | • nucleus |
| • apoptotic process | • negative regulation of cell population proliferation |
Pathways
• NF-κB signaling pathway
• Apoptosis
Protein Summary
BEX4 is a 125-amino acid protein localized to the cytoplasm and nucleus. It contains a conserved BEX domain and is known to interact with NF-κB subunits, modulating transcriptional activity. The protein is involved in regulating cell proliferation and apoptosis, with highest expression in brain tissues. BEX4 may act as a tumor suppressor in certain contexts.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BEX4 Knockout HEK293 Cell Line | EDJ-KQ2564 | Human | 56271 | Details Get a Quote |
| BEX4 Knockout A-549 Cell Line | EDJ-KQ23228 | Human | 56271 | Details Get a Quote |
| BEX4 Knockout HCT 116 Cell Line | EDJ-KQ23229 | Human | 56271 | Details Get a Quote |
| BEX4 Knockout HeLa Cell Line | EDJ-KQ56730 | Human | 56271 | Details Get a Quote |
