BTBD3 Gene: BTB Domain Containing 3
Comprehensive gene information for BTBD3, including function, expression, and disease associations.
Gene Information Card
| Symbol | BTBD3 |
|---|---|
| Full Name | BTB domain containing 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 20p12.2 |
| NCBI Gene ID | 22903 ncbi.nlm.nih.gov/gene/22903 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9Y2F5 |
| OMIM ID | 611218 |
| HGNC ID | 24267 |
| Aliases | KIAA0952, FLJ11273 |
Description
BTBD3 (BTB domain containing 3) is a protein-coding gene located on chromosome 20p12.2. The encoded protein contains a BTB (Broad-Complex, Tramtrack, and Bric à brac) domain, which is involved in protein-protein interactions and transcriptional regulation. BTBD3 is implicated in neuronal development and has been associated with certain cancers and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorders | Potential role in neuronal migration and dendritic spine maturation; BTBD3 knockdown affects cortical neuron development. | Limited evidence from functional studies (PMID: 22984561) |
| Colorectal cancer | Altered expression may contribute to tumorigenesis; BTBD3 is a target of miR-137. | Expression analysis and in vitro studies (PMID: 25944712) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Testis | 5.1 | Low |
| Lung | 3.4 | Low |
| Liver | 2.1 | Not detected |
| Kidney | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 12.5 | High expression in neuronal cell line |
| HeLa (cervical carcinoma) | 4.3 | Moderate expression |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
| HepG2 (hepatocellular carcinoma) | 1.0 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | Rare | Unknown functional effect; reported in ClinVar as uncertain significance |
| c.1246G>A (p.Gly416Ser) | Missense | Rare | Unknown functional effect; reported in ClinVar as uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in BTBD3.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in BTBD3.
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) |
Pathways
• No specific pathways curated for BTBD3 in major databases.
Protein Summary
BTBD3 is a 648-amino acid protein containing a BTB domain at the N-terminus. The BTB domain mediates homodimerization and interactions with other proteins, often involved in transcriptional regulation and chromatin remodeling. BTBD3 is expressed predominantly in the brain and testis, and its function is linked to neuronal development, particularly in cortical neuron migration and dendritic spine formation. Subcellularly, it localizes to the nucleus and cytoplasm.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BTBD3 Knockout A-549 Cell Line | EDJ-KQ31837 | Human | 22903 | Details Get a Quote |
| BTBD3 Knockout HeLa Cell Line | EDJ-KQ33163 | Human | 22903 | Details Get a Quote |
| BTBD3 Knockout HCT 116 Cell Line | EDJ-KQ33162 | Human | 22903 | Details Get a Quote |
| BTBD3 Knockout HEK293 Cell Line | EDJ-KQ7738 | Human | 22903 | Details Get a Quote |
