BMX Gene (BMX Non-Receptor Tyrosine Kinase)
A comprehensive overview of the BMX gene, including its genomic context, expression, associated diseases, and functional roles.
Gene Information Card
| Symbol | BMX |
|---|---|
| Full Name | BMX non-receptor tyrosine kinase |
| Gene Type | protein-coding |
| Chromosomal Location | Xp22.2 |
| NCBI Gene ID | 660 ncbi.nlm.nih.gov/gene/660 |
| Ensembl ID | ENSG00000102010 |
| UniProt ID | P51813 |
| OMIM ID | 300101 |
| HGNC ID | 1079 |
| Aliases | ETK, PSCTK2 |
Description
The BMX gene encodes a non-receptor tyrosine kinase belonging to the Tec family of kinases. It is involved in various cellular processes including cell growth, survival, migration, and differentiation. BMX is expressed in hematopoietic cells, endothelial cells, and certain epithelial tissues, and has been implicated in cancer progression and inflammatory responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate Cancer | BMX overexpression promotes androgen receptor signaling and tumor growth. | PMID: 20628056 |
| Breast Cancer | BMX activates STAT3 and promotes metastasis. | PMID: 23541922 |
| Hepatocellular Carcinoma | BMX enhances cell proliferation and invasion via PI3K/AKT pathway. | PMID: 27323851 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 12.5 | Medium |
| Spleen | 8.3 | Medium |
| Lung | 4.1 | Low |
| Prostate | 3.8 | Low |
| Breast | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 15.2 | Leukemia cell line |
| MCF7 | 6.8 | Breast cancer cell line |
| PC-3 | 9.1 | Prostate cancer cell line |
| HepG2 | 7.4 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.172C>T (p.Arg58Trp) | Missense | <0.01% | Unknown significance |
| c.1045G>A (p.Glu349Lys) | Missense | <0.01% | Unknown significance |
| c.1567_1568insA | Frameshift | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1567_1568insA) are predicted to truncate the protein, leading to loss of kinase activity.
Gain of Function (GOF)
No well-characterized gain-of-function mutations have been reported in BMX.
Dominant Negative (DN)
No dominant-negative mutations have been described for BMX.
View complete mutation data：
Gene Ontology (GO)
Pathways
• PI3K-Akt signaling pathway (KEGG: hsa04151)
• Rap1 signaling pathway (KEGG: hsa04015)
• Fc epsilon RI signaling pathway (KEGG: hsa04664)
Protein Summary
BMX is a 675-amino acid non-receptor tyrosine kinase with a PH domain, SH2 domain, SH3 domain, and a catalytic tyrosine kinase domain. It localizes to the cytoplasm and plasma membrane, and upon activation, phosphorylates downstream targets such as STAT3 and AKT, influencing cell survival and proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BMX Knockout HEK293 Cell Line | EDJ-KQ4139 | Human | 660 | Details Get a Quote |
| BMX Knockout HeLa Cell Line | EDJ-KQ52729 | Human | 660 | Details Get a Quote |
| BMX Knockout A-549 Cell Line | EDJ-KQ61201 | Human | 660 | Details Get a Quote |
| BMX Knockout HCT 116 Cell Line | EDJ-KQ69693 | Human | 660 | Details Get a Quote |
