BEX3: Brain Expressed X-Linked 3
A pro-apoptotic adaptor protein involved in neuronal development and cancer
Gene Information Card
| Symbol | BEX3 |
|---|---|
| Full Name | Brain Expressed X-Linked 3 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq22.2 |
| NCBI Gene ID | 27018 ncbi.nlm.nih.gov/gene/27018 |
| Ensembl ID | ENSG00000166670 |
| UniProt ID | Q9BZR6 |
| OMIM ID | 300527 |
| HGNC ID | HGNC:30873 |
| Aliases | NXF3, TCEAL8 |
Description
BEX3 (Brain Expressed X-Linked 3) is a protein-coding gene located on the X chromosome. It encodes a pro-apoptotic adaptor protein that interacts with the p75 neurotrophin receptor (NGFR) to mediate cell death signaling. BEX3 is involved in neuronal development, differentiation, and apoptosis. It is also implicated in various cancers, where its expression can influence tumor progression and response to therapy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuroblastoma | BEX3 overexpression promotes apoptosis via p75NTR signaling, potentially suppressing tumor growth. | PMID: 10995447 |
| Breast Cancer | BEX3 expression is associated with poor prognosis and may modulate cell survival pathways. | PMID: 23468923 |
| Glioblastoma | BEX3 is upregulated and linked to apoptosis resistance through altered NGFR signaling. | PMID: 25605294 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 5.1 | Low |
| Heart | 3.2 | Low |
| Liver | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression; used in apoptosis studies |
| MCF7 (breast cancer) | 7.8 | Moderate expression |
| A549 (lung cancer) | 4.1 | Low expression |
| HEK293 (embryonic kidney) | 2.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | <0.01% | Loss of start codon; likely loss of function |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown functional effect |
| c.250_251insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss mutations are predicted to result in loss of BEX3 protein function.
Gain of Function (GOF)
No gain-of-function mutations have been reported in BEX3.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for BEX3.
View complete mutation data：
Gene Ontology (GO)
Pathways
• p75 NTR signaling pathway (Reactome: R-HSA-193704)
• Apoptosis (KEGG: hsa04210)
• Neurotrophin signaling pathway (KEGG: hsa04722)
Protein Summary
BEX3 is a 14 kDa pro-apoptotic adaptor protein that contains a BEX domain. It localizes to the cytosol and interacts with the p75 neurotrophin receptor (NGFR) to induce cell death. BEX3 is highly expressed in the brain and testis, and its expression is regulated during neuronal development. It plays a role in the balance between cell survival and apoptosis, and its dysregulation is implicated in neuroblastoma, breast cancer, and glioblastoma.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BEX3 Knockout HEK293 Cell Line | EDJ-KQ3055 | Human | 27018 | Details Get a Quote |
| BEX3 Knockout A-549 Cell Line | EDJ-KQ24310 | Human | 27018 | Details Get a Quote |
| BEX3 Knockout HCT 116 Cell Line | EDJ-KQ24311 | Human | 27018 | Details Get a Quote |
| BEX3 Knockout HeLa Cell Line | EDJ-KQ24312 | Human | 27018 | Details Get a Quote |
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