BTBD7 Gene - BTB Domain Containing 7
A gene encoding a BTB/POZ domain-containing protein involved in cell migration, branching morphogenesis, and cancer metastasis.
Gene Information Card
| Symbol | BTBD7 |
|---|---|
| Full Name | BTB domain containing 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q32.12 |
| NCBI Gene ID | 55727 ncbi.nlm.nih.gov/gene/55727 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q9P203 |
| OMIM ID | 610852 |
| HGNC ID | 24949 |
| Aliases | FLJ10718, MGC138207, MGC138209 |
Description
BTBD7 (BTB domain containing 7) encodes a protein with a BTB/POZ domain, which is involved in protein-protein interactions and transcriptional regulation. The protein plays a critical role in cell migration, branching morphogenesis of epithelial tissues, and has been implicated in cancer metastasis, particularly in hepatocellular carcinoma and breast cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | BTBD7 overexpression promotes epithelial-mesenchymal transition (EMT) and metastasis via Snail upregulation. | PMID: 22664980 |
| Breast cancer | BTBD7 enhances cell migration and invasion through regulation of E-cadherin and vimentin. | PMID: 25944712 |
| Lung cancer | BTBD7 expression correlates with lymph node metastasis and poor prognosis. | PMID: 27358093 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.3 | Medium |
| Liver | 8.7 | Medium |
| Breast | 6.5 | Low |
| Kidney | 10.1 | Medium |
| Brain | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.6 | Hepatocellular carcinoma cell line |
| MCF7 | 9.8 | Breast cancer cell line |
| A549 | 11.4 | Lung cancer cell line |
| HEK293 | 7.3 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | missense | 0.02% | p.Pro412Ser; unknown functional impact |
| c.567_568insA | frameshift | <0.01% | Predicted loss of function |
| c.890G>A | missense | 0.01% | p.Arg297Gln; possibly damaging |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to truncate the protein, likely leading to loss of BTB domain function.
Gain of Function (GOF)
Missense mutations in the BTB domain may alter protein interactions, potentially enhancing pro-migratory activity.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) | • cell migration (GO:0016477) |
| • positive regulation of transcription (GO:0045893) |
Pathways
• Epithelial-to-mesenchymal transition (EMT) pathway
• Wnt signaling pathway (via β-catenin interaction)
Protein Summary
The BTBD7 protein contains an N-terminal BTB/POZ domain and a C-terminal region with no known conserved domains. It localizes to both the nucleus and cytoplasm, and interacts with transcription factors such as Snail to regulate genes involved in cell adhesion and motility. Overexpression in cancers correlates with invasive phenotype.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BTBD7 Knockout HEK293 Cell Line | EDJ-KQ12575 | Human | 55727 | Details Get a Quote |
| BTBD7 Knockout HCT 116 Cell Line | EDJ-KQ40298 | Human | 55727 | Details Get a Quote |
| BTBD7 Knockout A-549 Cell Line | EDJ-KQ41597 | Human | 55727 | Details Get a Quote |
| BTBD7 Knockout HeLa Cell Line | EDJ-KQ41599 | Human | 55727 | Details Get a Quote |
