KCTD18
Potassium Channel Tetramerization Domain Containing 18
Gene Information Card
| Symbol | KCTD18 |
|---|---|
| Full Name | potassium channel tetramerization domain containing 18 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 79088 ncbi.nlm.nih.gov/gene/79088 |
| Ensembl ID | ENSG00000162946 |
| UniProt ID | Q6ZTN6 |
| OMIM ID | 617640 |
| HGNC ID | 22228 |
| Aliases | FLJ22662, MGC131851 |
Description
KCTD18 (potassium channel tetramerization domain containing 18) is a protein-coding gene located on chromosome 2q31.1. The encoded protein contains a BTB/POZ domain similar to that found in potassium channel tetramerization domains, suggesting a role in protein-protein interactions and possibly ion channel regulation. KCTD18 is widely expressed in various tissues, with highest levels in the brain and testis. Its exact biological function remains under investigation, but it may be involved in neurodevelopmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Possible loss-of-function mutations in KCTD18 have been associated with neurodevelopmental phenotypes, though mechanism not fully elucidated. | ClinVar, OMIM |
| Intellectual disability | Rare variants in KCTD18 have been reported in individuals with intellectual disability, suggesting a potential role in cognitive function. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Lung | 4.3 | Low |
| Liver | 2.1 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.7 | Moderate expression |
| SH-SY5Y | 11.2 | Higher expression in neuronal cell line |
| HeLa | 5.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Likely pathogenic in neurodevelopmental disorder |
| c.1012G>A (p.Gly338Arg) | Missense | <0.01% | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function variants in KCTD18 are suspected to contribute to neurodevelopmental phenotypes, but experimental evidence is limited.
Gain of Function (GOF)
No gain-of-function mutations have been reported for KCTD18.
Dominant Negative (DN)
No dominant-negative mutations have been described for KCTD18.
View complete mutation data：
Gene Ontology (GO)
| • protein homodimerization activity | • identical protein binding |
| • cytoplasm | • nucleus |
Pathways
• No specific pathways are currently curated for KCTD18.
Protein Summary
The KCTD18 protein (UniProt Q6ZTN6) is 359 amino acids long and contains a BTB/POZ domain (residues 22-120) characteristic of potassium channel tetramerization domain-containing proteins. It is predicted to localize to the cytoplasm and nucleus, and may function in protein-protein interactions. The protein is expressed in multiple tissues, with highest levels in brain and testis. Its precise molecular function remains to be fully characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCTD18 Knockout HEK293 Cell Line | EDJ-KQ9242 | Human | 130535 | Details Get a Quote |
| KCTD18 Knockout A-549 Cell Line | EDJ-KQ35833 | Human | 130535 | Details Get a Quote |
| KCTD18 Knockout HCT 116 Cell Line | EDJ-KQ35834 | Human | 130535 | Details Get a Quote |
| KCTD18 Knockout HeLa Cell Line | EDJ-KQ35835 | Human | 130535 | Details Get a Quote |
