KCTD15
Potassium Channel Tetramerization Domain Containing 15
Gene Information Card
| Symbol | KCTD15 |
|---|---|
| Full Name | Potassium Channel Tetramerization Domain Containing 15 |
| Gene Type | Protein-coding |
| Chromosomal Location | 19q13.11 |
| NCBI Gene ID | 79047 ncbi.nlm.nih.gov/gene/79047 |
| Ensembl ID | ENSG00000167757 |
| UniProt ID | Q96SI1 |
| OMIM ID | 611255 |
| HGNC ID | 21234 |
| Aliases | BTBD3, MGC13170 |
Description
KCTD15 (potassium channel tetramerization domain containing 15) is a protein-coding gene located on chromosome 19q13.11. It encodes a member of the KCTD family, which contains a BTB/POZ domain and a potassium channel tetramerization domain. The protein is involved in protein-protein interactions and may play a role in neuronal development and energy homeostasis. Genome-wide association studies have linked KCTD15 variants to body mass index (BMI) and obesity risk.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | GWAS association with BMI; exact mechanism unclear | GWAS catalog, PMID: 19079260 |
| Body Mass Index (BMI) quantitative trait | Variants in KCTD15 are associated with increased BMI | GWAS catalog, PMID: 19079260 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Medium |
| Adipose tissue | 5.1 | Low |
| Liver | 3.8 | Low |
| Heart | 2.9 | Low |
| Kidney | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.5 | Embryonic kidney cells |
| SH-SY5Y | 12.3 | Neuroblastoma cells |
| HepG2 | 4.2 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs29941 | SNP | Common (allele frequency ~0.3) | Associated with increased BMI |
| rs11084753 | SNP | Common (allele frequency ~0.4) | Associated with obesity risk |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • identical protein binding |
| • potassium channel tetramerization | • BTB domain binding |
Pathways
• No specific pathway assigned in Reactome or KEGG
Protein Summary
The KCTD15 protein (UniProt Q96SI1) contains a BTB/POZ domain and a potassium channel tetramerization domain. It is predicted to form homooligomers and interact with other proteins, potentially modulating ion channel function or transcriptional regulation. The protein is expressed in brain and other tissues, and its exact cellular function remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCTD15 Knockout HEK293 Cell Line | EDJ-KQ13911 | Human | 79047 | Details Get a Quote |
| KCTD15 Knockout A-549 Cell Line | EDJ-KQ43770 | Human | 79047 | Details Get a Quote |
| KCTD15 Knockout HCT 116 Cell Line | EDJ-KQ43771 | Human | 79047 | Details Get a Quote |
| KCTD15 Knockout HeLa Cell Line | EDJ-KQ43772 | Human | 79047 | Details Get a Quote |
