BTBD10: A BTB Domain-Containing Protein with Roles in Apoptosis and Cancer
Comprehensive gene card for BTBD10, including genomic context, expression, mutations, and disease associations.
Gene Information Card
| Symbol | BTBD10 |
|---|---|
| Full Name | BTB domain containing 10 |
| Gene Type | protein-coding |
| Chromosomal Location | 11p15.2 |
| NCBI Gene ID | 84280 ncbi.nlm.nih.gov/gene/84280 |
| Ensembl ID | ENSG00000137710 |
| UniProt ID | Q9BSF8 |
| OMIM ID | 616259 |
| HGNC ID | 25098 |
| Aliases | FLJ11273, MGC131851, dJ1181N3.1 |
Description
BTBD10 (BTB domain containing 10) encodes a protein that contains a BTB (POZ) domain, which is involved in protein-protein interactions and transcriptional regulation. BTBD10 has been implicated in the regulation of apoptosis, cell proliferation, and may act as a tumor suppressor or oncogene depending on context. It is also known to interact with protein phosphatase 2A (PP2A) and modulate its activity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glioblastoma | BTBD10 expression is altered; may influence apoptosis via PP2A modulation. | PMID: 23431147 |
| Pancreatic cancer | BTBD10 overexpression correlates with poor prognosis; promotes cell proliferation. | PMID: 27323851 |
| Colorectal cancer | BTBD10 downregulation associated with tumor progression. | PMID: 25636847 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Medium |
| Pancreas | 3.8 | Low |
| Colon | 2.1 | Low |
| Liver | 1.5 | Low |
| Testis | 4.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.5 | Embryonic kidney; moderate expression |
| HeLa | 3.2 | Cervical cancer; low expression |
| U87MG | 6.1 | Glioblastoma; high expression |
| PANC-1 | 5.8 | Pancreatic cancer; high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | <0.01 | Unknown; reported in COSMIC |
| c.521A>G (p.Asn174Ser) | Missense | <0.01 | Unknown; reported in COSMIC |
| c.682G>A (p.Glu228Lys) | Missense | <0.01 | Unknown; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
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) | • negative regulation of apoptotic process (GO:0043066) |
| • protein kinase binding (GO:0019901) |
Pathways
• PP2A-mediated signaling
• Apoptosis regulation
Protein Summary
BTBD10 is a 442-amino acid protein containing a BTB domain at its N-terminus. It localizes to the nucleus and cytoplasm and interacts with the catalytic subunit of protein phosphatase 2A (PP2A), thereby modulating PP2A activity. Through this interaction, BTBD10 influences cell survival and apoptosis. Altered expression of BTBD10 has been observed in several cancers, suggesting a role in tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BTBD10 Knockout HEK293 Cell Line | EDJ-KQ10050 | Human | 84280 | Details Get a Quote |
| BTBD10 Knockout A-549 Cell Line | EDJ-KQ37074 | Human | 84280 | Details Get a Quote |
| BTBD10 Knockout HCT 116 Cell Line | EDJ-KQ37075 | Human | 84280 | Details Get a Quote |
| BTBD10 Knockout HeLa Cell Line | EDJ-KQ37076 | Human | 84280 | Details Get a Quote |
