KCTD11
Potassium Channel Tetramerization Domain Containing 11: A Tumor Suppressor in Medulloblastoma
Gene Information Card
| Symbol | KCTD11 |
|---|---|
| Full Name | Potassium Channel Tetramerization Domain Containing 11 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.2 |
| NCBI Gene ID | 147040 ncbi.nlm.nih.gov/gene/147040 |
| Ensembl ID | ENSG00000178904 |
| UniProt ID | Q8N5K1 |
| OMIM ID | 609778 |
| HGNC ID | 21304 |
| Aliases | KCASH1, REN, KCTD11 |
Description
KCTD11 (potassium channel tetramerization domain containing 11), also known as KCASH1 or REN, is a protein-coding gene located on chromosome 17p13.2. It functions as a tumor suppressor, particularly in medulloblastoma, by negatively regulating the Hedgehog signaling pathway. KCTD11 promotes the degradation of the transcription factor GLI1, thereby inhibiting cell proliferation and tumor growth. The gene is frequently deleted or downregulated in medulloblastoma and other cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Medulloblastoma | KCTD11 loss leads to increased GLI1 stability and aberrant Hedgehog signaling, promoting tumorigenesis. | PMID: 15156142, PMID: 18772397 |
| Hepatocellular carcinoma | Reduced KCTD11 expression correlates with poor prognosis and enhanced proliferation via Hedgehog pathway activation. | PMID: 23361061 |
| Colorectal cancer | KCTD11 downregulation is associated with tumor progression and metastasis. | PMID: 25605247 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Medium |
| Cerebellum | 6.8 | Medium |
| Testis | 3.1 | Low |
| Lung | 1.5 | Low |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| DAOY (medulloblastoma) | 0.3 | Low expression; loss of KCTD11 contributes to Hedgehog pathway activation |
| HEK293 | 4.5 | Moderate expression; used for functional studies |
| HepG2 (liver cancer) | 1.2 | Reduced expression compared to normal hepatocytes |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Potential loss of start codon; likely loss of function |
| c.187C>T (p.Arg63Trp) | Missense | <0.1% | Unknown significance; reported in COSMIC |
| Deletion of 17p13.2 | Copy number loss | Common in medulloblastoma | Loss of heterozygosity; reduces KCTD11 expression |
Mutation functional classification
Loss of Function (LOF)
Deletions and missense mutations that impair KCTD11's ability to degrade GLI1 are classified as loss-of-function, contributing to Hedgehog pathway overactivation.
Gain of Function (GOF)
No gain-of-function mutations have been reported for KCTD11.
Dominant Negative (DN)
No dominant-negative mutations have been described for KCTD11.
View complete mutation data：
Gene Ontology (GO)
| • Negative regulation of transcription by RNA polymerase II | • Protein ubiquitination |
| • Hedgehog signaling pathway | • Cytoplasm |
| • Nucleus |
Pathways
• Hedgehog signaling pathway (Reactome: R-HSA-5358351)
• GLI1 degradation via ubiquitin-proteasome system
Protein Summary
KCTD11 encodes a 232-amino acid protein containing a BTB/POZ domain and a potassium channel tetramerization domain. It acts as an adaptor for Cullin3-based E3 ubiquitin ligase complexes, targeting GLI1 for ubiquitination and proteasomal degradation. This negative regulation of the Hedgehog pathway is critical for suppressing medulloblastoma growth. KCTD11 is predominantly cytoplasmic but can shuttle to the nucleus.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCTD11 Knockout HEK293 Cell Line | EDJ-KQ10545 | Human | 147040 | Details Get a Quote |
| KCTD11 Knockout A-549 Cell Line | EDJ-KQ37987 | Human | 147040 | Details Get a Quote |
| KCTD11 Knockout HCT 116 Cell Line | EDJ-KQ37988 | Human | 147040 | Details Get a Quote |
| KCTD11 Knockout HeLa Cell Line | EDJ-KQ37989 | Human | 147040 | Details Get a Quote |
