BTBD8 Gene - BTB Domain Containing 8
Comprehensive genomic and functional analysis of BTBD8, a BTB/POZ domain-containing protein with roles in transcriptional regulation and potential links to cancer and developmental disorders.
Gene Information Card
| Symbol | BTBD8 |
|---|---|
| Full Name | BTB Domain Containing 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.33 |
| NCBI Gene ID | 284697 ncbi.nlm.nih.gov/gene/284697 |
| Ensembl ID | ENSG00000162572 |
| UniProt ID | Q5T0F9 |
| OMIM ID | 617862 |
| HGNC ID | 20239 |
| Aliases | FLJ32709, MGC131891, dJ1181N3.1 |
Description
BTBD8 (BTB Domain Containing 8) is a protein-coding gene located on chromosome 1p36.33. The encoded protein contains a BTB/POZ domain, which is involved in protein-protein interactions and transcriptional regulation. BTBD8 is expressed in multiple tissues and has been implicated in cellular processes such as transcription, development, and potentially cancer. Limited functional studies suggest roles in protein ubiquitination and chromatin remodeling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | BTBD8 may act as a tumor suppressor; altered expression linked to poor prognosis. | COSMIC; ClinVar |
| Colorectal cancer | Somatic mutations and copy number alterations observed in tumor samples. | COSMIC |
| Developmental disorders | Rare variants reported in patients with intellectual disability and congenital anomalies. | ClinVar; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.7 | Embryonic kidney; moderate expression |
| HeLa | 7.4 | Cervical cancer; low expression |
| K562 | 5.2 | Leukemia; low expression |
| MCF7 | 4.1 | Breast cancer; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Pro34Leu) | Missense | 0.01% | Unknown; predicted damaging by SIFT |
| c.205G>A (p.Gly69Arg) | Missense | 0.005% | Unknown; predicted benign |
| c.487_489del (p.Lys163del) | In-frame deletion | 0.002% | Unknown; may affect protein stability |
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 evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) | • metal ion binding (GO:0046872) |
| • zinc ion binding (GO:0008270) |
Pathways
• Not assigned to any canonical pathway in KEGG or Reactome.
Protein Summary
The BTBD8 protein (UniProt Q5T0F9) is 489 amino acids long and contains a BTB/POZ domain (residues 33–130). It is predicted to localize to the nucleus and cytoplasm, and may function as a transcriptional regulator through protein-protein interactions. Structural predictions suggest it may form homodimers or heterodimers with other BTB domain-containing proteins. No enzymatic activity has been experimentally validated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KBTBD8 Knockout HEK293 Cell Line | EDJ-KQ2243 | Human | 84541 | Details Get a Quote |
| BTBD8 Knockout HEK293 Cell Line | EDJ-KQ12576 | Human | 284697 | Details Get a Quote |
| KBTBD8 Knockout A-549 Cell Line | EDJ-KQ22537 | Human | 84541 | Details Get a Quote |
| KBTBD8 Knockout HCT 116 Cell Line | EDJ-KQ22538 | Human | 84541 | Details Get a Quote |
| KBTBD8 Knockout HeLa Cell Line | EDJ-KQ22539 | Human | 84541 | Details Get a Quote |
| BTBD8 Knockout A-549 Cell Line | EDJ-KQ41600 | Human | 284697 | Details Get a Quote |
| BTBD8 Knockout HCT 116 Cell Line | EDJ-KQ76333 | Human | 284697 | Details Get a Quote |
| BTBD8 Knockout HeLa Cell Line | EDJ-KQ78041 | Human | 284697 | Details Get a Quote |
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