KCTD20
Potassium Channel Tetramerization Domain Containing 20
Gene Information Card
| Symbol | KCTD20 |
|---|---|
| Full Name | Potassium Channel Tetramerization Domain Containing 20 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.31 |
| NCBI Gene ID | 222658 ncbi.nlm.nih.gov/gene/222658 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q8N5Z0 |
| OMIM ID | 617647 |
| HGNC ID | 28473 |
| Aliases | FLJ32709, MGC131851 |
Description
KCTD20 is a protein-coding gene located on chromosome 6p21.31. It encodes a member of the potassium channel tetramerization domain (KCTD) family, which is characterized by a BTB/POZ domain. The protein is involved in cellular processes such as protein ubiquitination and may play a role in ciliogenesis and cell cycle regulation. KCTD20 is broadly expressed in various tissues, with highest levels in the brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Lung | 5.8 | Low |
| Liver | 3.1 | Low |
| Kidney | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.5 | Moderate expression |
| HeLa | 6.2 | Low expression |
| K562 | 4.0 | Low expression |
| SH-SY5Y | 11.0 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) | • nucleus (GO:0005634) |
| • calmodulin binding (GO:0005516) |
Pathways
• No specific pathways curated in Reactome or KEGG for KCTD20
Protein Summary
The KCTD20 protein contains a BTB/POZ domain and a potassium channel tetramerization domain. It is predicted to localize to the cytoplasm and nucleus, and may function in protein-protein interactions and ubiquitination. Its exact biological role remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCTD20 Knockout HEK293 Cell Line | EDJ-KQ9035 | Human | 222658 | Details Get a Quote |
| KCTD20 Knockout A-549 Cell Line | EDJ-KQ35480 | Human | 222658 | Details Get a Quote |
| KCTD20 Knockout HCT 116 Cell Line | EDJ-KQ35481 | Human | 222658 | Details Get a Quote |
| KCTD20 Knockout HeLa Cell Line | EDJ-KQ35482 | Human | 222658 | Details Get a Quote |
