KCTD17
Potassium Channel Tetramerization Domain Containing 17
Gene Information Card
| Symbol | KCTD17 |
|---|---|
| Full Name | Potassium Channel Tetramerization Domain Containing 17 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q12.3 |
| NCBI Gene ID | 79734 ncbi.nlm.nih.gov/gene/79734 |
| Ensembl ID | ENSG00000100296 |
| UniProt ID | Q8N5Z0 |
| OMIM ID | 616368 |
| HGNC ID | 25705 |
| Aliases | MGC13125, bA217H19.1 |
Description
KCTD17 (potassium channel tetramerization domain containing 17) is a protein-coding gene located on chromosome 22q12.3. The encoded protein contains a BTB/POZ domain and is involved in ciliogenesis and protein ubiquitination. It is expressed in various tissues and has been implicated in neurodevelopmental disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal dominant mental retardation 32 | Missense mutations in KCTD17 cause a neurodevelopmental disorder; mechanism involves impaired ciliogenesis | ClinVar, OMIM |
| Hepatocellular carcinoma | Overexpression of KCTD17 promotes tumor growth via ubiquitination pathway | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 10.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 6.1 | Low |
| Heart | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.0 | High expression |
| HepG2 | 9.5 | Moderate expression |
| SH-SY5Y | 7.8 | Moderate expression |
| K562 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.434C>T (p.Pro145Leu) | Missense | Rare | Associated with autosomal dominant mental retardation 32 |
| c.523G>A (p.Gly175Arg) | Missense | Rare | Likely pathogenic; disrupts BTB domain |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Pro145Leu) lead to loss of ciliary function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
p.Pro145Leu may exert dominant-negative effect on ciliogenesis.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 (GO:0005515) | • GO:0005737 (GO:0005737) |
| • GO:0030154 (GO:0030154) | • GO:0043161 (GO:0043161) |
Pathways
• Ciliogenesis
• Ubiquitin-proteasome pathway
Protein Summary
The KCTD17 protein contains a BTB/POZ domain and is involved in ciliogenesis and ubiquitination. It localizes to the cytoplasm and centrosome, and mutations are linked to neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCTD17 Knockout HEK293 Cell Line | EDJ-KQ13913 | Human | 79734 | Details Get a Quote |
| KCTD17 Knockout A-549 Cell Line | EDJ-KQ43774 | Human | 79734 | Details Get a Quote |
| KCTD17 Knockout HCT 116 Cell Line | EDJ-KQ43775 | Human | 79734 | Details Get a Quote |
| KCTD17 Knockout HeLa Cell Line | EDJ-KQ43776 | Human | 79734 | Details Get a Quote |
