KCTD21
Potassium Channel Tetramerization Domain Containing 21
Gene Information Card
| Symbol | KCTD21 |
|---|---|
| Full Name | potassium channel tetramerization domain containing 21 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q14.1 |
| NCBI Gene ID | 283219 ncbi.nlm.nih.gov/gene/283219 |
| Ensembl ID | ENSG00000183778 |
| UniProt ID | Q8N5Z0 |
| OMIM ID | 617577 |
| HGNC ID | 26086 |
| Aliases | MGC13170, dJ1181N3.1 |
Description
KCTD21 (potassium channel tetramerization domain containing 21) is a protein-coding gene located on chromosome 11q14.1. The encoded protein contains a BTB/POZ domain and is involved in protein-protein interactions, potentially modulating ion channel function or cellular signaling. Expression is observed in multiple tissues, with notable 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 | 8.2 | Medium |
| Testis | 6.5 | Medium |
| Lung | 3.1 | Low |
| Liver | 1.8 | Low |
| Kidney | 2.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 4.5 | Moderate expression |
| HeLa | 3.2 | Low expression |
| K562 | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | missense | 0.001% (gnomAD) | Unknown functional effect |
| c.454G>A (p.Gly152Ser) | missense | 0.0005% (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No confirmed dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • protein homodimerization activity | • identical protein binding |
| • protein-containing complex binding |
Pathways
• No specific pathways curated in Reactome or KEGG for KCTD21
Protein Summary
The KCTD21 protein (UniProt Q8N5Z0) is 307 amino acids long and contains a BTB/POZ domain (residues 30-130). It is predicted to form homodimers and may interact with cullin-RING ubiquitin ligase complexes, though its precise cellular function remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCTD21 Knockout HEK293 Cell Line | EDJ-KQ13914 | Human | 283219 | Details Get a Quote |
| KCTD21 Knockout A-549 Cell Line | EDJ-KQ43777 | Human | 283219 | Details Get a Quote |
| KCTD21 Knockout HCT 116 Cell Line | EDJ-KQ43778 | Human | 283219 | Details Get a Quote |
| KCTD21 Knockout HeLa Cell Line | EDJ-KQ43779 | Human | 283219 | Details Get a Quote |
