KCTD8
Potassium Channel Tetramerization Domain Containing 8
Gene Information Card
| Symbol | KCTD8 |
|---|---|
| Full Name | Potassium Channel Tetramerization Domain Containing 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 4p13 |
| NCBI Gene ID | 386617 ncbi.nlm.nih.gov/gene/386617 |
| Ensembl ID | ENSG00000183722 |
| UniProt ID | Q6ZWB6 |
| OMIM ID | 616197 |
| HGNC ID | 28323 |
| Aliases | BTBD13, FLJ32786 |
Description
KCTD8 (potassium channel tetramerization domain containing 8) is a protein-coding gene located on chromosome 4p13. It belongs to the KCTD family, characterized by a BTB/POZ domain similar to the tetramerization domain of voltage-gated potassium channels. KCTD8 is involved in protein-protein interactions and may modulate ion channel function or cellular signaling. Expression data from GTEx and other sources indicate predominant expression in neural tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in OMIM or ClinVar | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebellum) | 12.5 | Medium |
| Brain (cortex) | 8.3 | Low |
| Testis | 6.1 | Low |
| Adipose tissue | 3.2 | Not detected |
| Heart | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Moderate expression |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
| HeLa (cervical carcinoma) | 1.5 | Not detected |
| K562 (leukemia) | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% (gnomAD) | Unknown functional effect |
| c.205G>A (p.Gly69Ser) | Missense | <0.01% (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • identical protein binding (GO:0042802) |
Pathways
• No curated pathways in Reactome or KEGG for KCTD8.
Protein Summary
The KCTD8 protein (UniProt Q6ZWB6) contains a BTB/POZ domain (residues 30-130) that mediates homodimerization and interactions with other proteins. It is predicted to be cytoplasmic and may play a role in neuronal signaling or development. No crystal structure is available; function remains largely uncharacterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCTD8 Knockout HEK293 Cell Line | EDJ-KQ13907 | Human | 386617 | Details Get a Quote |
| KCTD8 Knockout HeLa Cell Line | EDJ-KQ59950 | Human | 386617 | Details Get a Quote |
| KCTD8 Knockout A-549 Cell Line | EDJ-KQ68411 | Human | 386617 | Details Get a Quote |
| KCTD8 Knockout HCT 116 Cell Line | EDJ-KQ76790 | Human | 386617 | Details Get a Quote |
