KCTD16
Potassium Channel Tetramerization Domain Containing 16
Gene Information Card
| Symbol | KCTD16 |
|---|---|
| Full Name | Potassium Channel Tetramerization Domain Containing 16 |
| Gene Type | Protein coding |
| Chromosomal Location | 18q21.1 |
| NCBI Gene ID | 57528 ncbi.nlm.nih.gov/gene/57528 |
| Ensembl ID | ENSG00000134326 |
| UniProt ID | Q68DU8 |
| OMIM ID | 608756 |
| HGNC ID | 21333 |
| Aliases | KIAA1317 |
Description
KCTD16 (potassium channel tetramerization domain containing 16) is a protein-coding gene located on chromosome 18q21.1. It belongs to the KCTD family, which is characterized by a BTB/POZ domain and is involved in various cellular processes including ion channel regulation and protein ubiquitination. KCTD16 is known to interact with GABA-B receptors and may modulate receptor signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epilepsy, familial focal, with variable foci | Altered GABA-B receptor signaling | ClinVar, OMIM |
| Intellectual disability | Potential synaptic dysfunction | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Testis | 4.1 | Low |
| Lung | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 12.5 | Neuroblastoma cell line |
| HEK293 | 3.2 | Embryonic kidney cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Ter) | Nonsense | Rare | Loss of function |
| c.124G>A (p.Gly42Arg) | Missense | Rare | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutation p.Arg339Ter leads to premature stop codon and likely loss of function.
Gain of Function (GOF)
No evidence of gain-of-function mutations in KCTD16.
Dominant Negative (DN)
No evidence of dominant-negative mutations in KCTD16.
View complete mutation data：
Gene Ontology (GO)
| • protein homodimerization activity | • identical protein binding |
| • GABA receptor binding | • ubiquitin protein ligase binding |
Pathways
• GABAergic synapse
• Ubiquitin mediated proteolysis
Protein Summary
KCTD16 encodes a protein of 332 amino acids that contains a BTB/POZ domain at the N-terminus. It functions as an auxiliary subunit of GABA-B receptors, modulating receptor trafficking and signaling. The protein also interacts with cullin3 ubiquitin ligase complex, suggesting a role in protein ubiquitination.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCTD16 Knockout HEK293 Cell Line | EDJ-KQ13912 | Human | 57528 | Details Get a Quote |
| KCTD16 Knockout HeLa Cell Line | EDJ-KQ42512 | Human | 57528 | Details Get a Quote |
| KCTD16 Knockout A-549 Cell Line | EDJ-KQ65372 | Human | 57528 | Details Get a Quote |
| KCTD16 Knockout HCT 116 Cell Line | EDJ-KQ73810 | Human | 57528 | Details Get a Quote |
