KBTBD2
Kelch Repeat and BTB Domain Containing 2
Gene Information Card
| Symbol | KBTBD2 |
|---|---|
| Full Name | Kelch Repeat and BTB Domain Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p15.3 |
| NCBI Gene ID | 25948 ncbi.nlm.nih.gov/gene/25948 |
| Ensembl ID | ENSG00000106384 |
| UniProt ID | Q8IYS2 |
| OMIM ID | 615596 |
| HGNC ID | 29069 |
| Aliases | KIAA0456, MGC138207 |
Description
KBTBD2 encodes a protein containing a BTB (Broad-Complex, Tramtrack, and Bric a brac) domain and multiple Kelch repeats. The BTB domain is involved in protein-protein interactions and transcriptional regulation, while Kelch repeats mediate substrate recognition for ubiquitination. KBTBD2 is thought to function as a substrate adaptor for Cullin-RING E3 ubiquitin ligase complexes, targeting proteins for proteasomal degradation. It is involved in cellular processes such as cell cycle regulation and signal transduction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease associations reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.8 | Low |
| Kidney | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cells |
| HeLa | 7.4 | Cervical cancer cells |
| K562 | 6.9 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported in ClinVar or COSMIC | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
Not characterized
Gain of Function (GOF)
Not characterized
Dominant Negative (DN)
Not characterized
View complete mutation data：
Gene Ontology (GO)
| • protein ubiquitination | • ubiquitin-dependent protein catabolic process |
| • protein binding | • BTB domain binding |
Pathways
• Cullin-RING E3 ubiquitin ligase complex
Protein Summary
KBTBD2 is a 627-amino acid protein with a molecular weight of approximately 70 kDa. It contains an N-terminal BTB domain and six C-terminal Kelch repeats. The BTB domain mediates dimerization and interaction with Cullin proteins, while the Kelch repeats form a beta-propeller structure that recognizes specific substrates for ubiquitination. KBTBD2 is localized in the cytoplasm and nucleus.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KBTBD2 Knockout HEK293 Cell Line | EDJ-KQ8318 | Human | 25948 | Details Get a Quote |
| KBTBD2 Knockout A-549 Cell Line | EDJ-KQ34305 | Human | 25948 | Details Get a Quote |
| KBTBD2 Knockout HCT 116 Cell Line | EDJ-KQ34306 | Human | 25948 | Details Get a Quote |
| KBTBD2 Knockout HeLa Cell Line | EDJ-KQ34307 | Human | 25948 | Details Get a Quote |
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