KCTD6
Potassium Channel Tetramerization Domain Containing 6
Gene Information Card
| Symbol | KCTD6 |
|---|---|
| Full Name | Potassium Channel Tetramerization Domain Containing 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p14.3 |
| NCBI Gene ID | 200845 ncbi.nlm.nih.gov/gene/200845 |
| Ensembl ID | ENSG00000163605 |
| UniProt ID | Q6ZUT6 |
| OMIM ID | 617540 |
| HGNC ID | 28376 |
| Aliases | BTBD3, MGC131895 |
Description
KCTD6 (Potassium Channel Tetramerization Domain Containing 6) is a protein-coding gene located on chromosome 3p14.3. The encoded protein contains a BTB/POZ domain and is involved in protein-protein interactions, potentially modulating ubiquitination and degradation pathways. KCTD6 is expressed in various tissues and has been implicated in cancer and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered expression may affect cell proliferation via protein degradation pathways | COSMIC database reports somatic mutations in various cancers |
| Developmental disorders | Potential role in neurodevelopment due to BTB domain interactions | Limited evidence from gene expression studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.5 | Low |
| Lung | 6.2 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Moderate expression |
| HeLa | 10.2 | Detectable |
| K562 | 7.8 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Unknown functional impact |
| c.502G>A (p.Gly168Arg) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
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 | • identical protein binding |
| • BTB domain binding |
Pathways
• Ubiquitin mediated proteolysis (potential)
Protein Summary
The KCTD6 protein (UniProt Q6ZUT6) contains a BTB/POZ domain typical of potassium channel tetramerization domain-containing proteins. It is predicted to participate in protein-protein interactions and may function as an adaptor in ubiquitin ligase complexes, though its precise biological role remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCTD6 Knockout HEK293 Cell Line | EDJ-KQ4625 | Human | 200845 | Details Get a Quote |
| KCTD6 Knockout A-549 Cell Line | EDJ-KQ27299 | Human | 200845 | Details Get a Quote |
| KCTD6 Knockout HCT 116 Cell Line | EDJ-KQ27300 | Human | 200845 | Details Get a Quote |
| KCTD6 Knockout HeLa Cell Line | EDJ-KQ27301 | Human | 200845 | Details Get a Quote |
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