HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KCTD17
potassium channel tetramerization domain containing 17
Chromosome 22 · 22q12.3
NCBI Gene: 79734Ensembl: ENSG00000100379.18HGNC: HGNC:25705UniProt: A0A087WX35
59PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingidentical protein bindingcullin family protein bindingubiquitin-like ligase-substrate adaptor activitymyoclonic dystonia 26myoclonus-dystonia syndromepoisoninggenetic disorder
✦AI Summary

KCTD17 is a substrate adapter for CUL3-RING ubiquitin ligase complexes that regulates protein degradation through multiple pathways. Its primary established function involves promoting ciliogenesis by mediating TCHP degradation, thereby facilitating axoneme extension 1. KCTD17 may also influence endoplasmic reticulum calcium homeostasis 2. Recent research has expanded understanding of KCTD17's pathological roles. In hepatocellular carcinoma, KCTD17 promotes tumor progression by degrading Lztr1, a Ras destabilizer, leading to Ras stabilization and enhanced cellular proliferation and migration 3. In metabolic dysfunction-associated steatohepatitis, KCTD17 facilitates Zbtb7b degradation, reducing SERPINA3 expression and promoting hepatic fibrosis through PAR2/TGFβ signaling 4. In obesity-induced metabolic disease, KCTD17 degrades O-GlcNAcase, stabilizing ChR22 and exacerbating glucose intolerance and hepatic steatosis 5. KCTD17 demonstrates functional redundancy with related KCTD proteins in controlling cellular growth 6. Clinically, mutations in KCTD17 cause dystonia 26 with myoclonus, a primary monogenic movement disorder 7. KCTD17 represents an emerging therapeutic target for hepatocellular carcinoma, fatty liver disease, and metabolic complications of obesity, with antisense oligonucleotides showing promise in preclinical models 35.

Sources cited
1
KCTD17 mediates TCHP degradation and positively regulates ciliogenesis and axoneme extension
PMID: 25270598
2
KCTD17 may play a role in endoplasmic reticulum calcium ion homeostasis
PMID: 25983243
3
KCTD17 is upregulated in HCC, degrades Lztr1 to stabilize Ras, promotes tumor progression, and is targetable with antisense oligonucleotides
PMID: 39098817
4
KCTD17 is increased in MASH, facilitates Zbtb7b degradation reducing SERPINA3, and promotes liver fibrosis through PAR2/TGFβ signaling
PMID: 40744994
5
Hepatocyte KCTD17 is increased in obesity, degrades OGA to stabilize ChREBP, and promotes glucose intolerance and hepatic steatosis
PMID: 36402191
6
KCTD17 demonstrates redundant functions with KCTD2 and KCTD5 in controlling cellular growth and regulating Gβ1 levels
PMID: 38732215
7
KCTD17 mutations cause DYT-KCTD17, a primary monogenic dystonia characterized by tremor
PMID: 34264428
8
KCTD17 mutations cause combined dystonia with myoclonus (MYC/DYT-KCTD17)
PMID: 33099685
Disease Associationsⓘ21
myoclonic dystonia 26Open Targets
0.66Moderate
myoclonus-dystonia syndromeOpen Targets
0.37Weak
poisoningOpen Targets
0.21Weak
genetic disorderOpen Targets
0.19Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.07Suggestive
placenta praeviaOpen Targets
0.07Suggestive
Hepatic fibrosisOpen Targets
0.06Suggestive
non-alcoholic steatohepatitisOpen Targets
0.06Suggestive
iron metabolism diseaseOpen Targets
0.04Suggestive
anemia (phenotype)Open Targets
0.04Suggestive
Iron deficiency anemiaOpen Targets
0.03Suggestive
polycythemiaOpen Targets
0.03Suggestive
ovarian neoplasmOpen Targets
0.03Suggestive
anemiaOpen Targets
0.03Suggestive
intestinal disaccharide deficiency and disaccharide malabsorptionOpen Targets
0.03Suggestive
inborn carbohydrate metabolic disorderOpen Targets
0.03Suggestive
hematologic diseaseOpen Targets
0.02Suggestive
Hepatic steatosisOpen Targets
0.02Suggestive
obesityOpen Targets
0.02Suggestive
Dystonia 26, myoclonicUniProt
Pathogenic Variants5
NM_001282684.2(KCTD17):c.413G>A (p.Arg138His)Pathogenic
Myoclonic dystonia 26|not provided
★★☆☆2026→ Residue 138
NM_001282684.2(KCTD17):c.487-1G>TLikely pathogenic
Myoclonic dystonia 26
★☆☆☆2025
NM_001282684.2(KCTD17):c.487-1G>CPathogenic
Myoclonic dystonia 26
★☆☆☆2024
NM_001282684.2(KCTD17):c.547dup (p.Val183fs)Pathogenic
Myoclonic dystonia 26
★☆☆☆2024→ Residue 183
NM_001282684.2(KCTD17):c.461T>A (p.Met154Lys)Likely pathogenic
Myoclonic dystonia 26
☆☆☆☆2026→ Residue 154
View on ClinVar ↗
Related Genes
RBX1Protein interaction99%KLHL22Protein interaction93%KBTBD8Protein interaction92%KCTD13Protein interaction92%SPOPLProtein interaction92%TNFAIP1Protein interaction91%
Tissue Expression6 tissues
Brain
100%
Heart
67%
Ovary
61%
Lung
30%
Bone Marrow
28%
Liver
14%
Gene Interaction Network
Click a node to explore
KCTD17RBX1KLHL22KBTBD8KCTD13SPOPLTNFAIP1
PROTEIN STRUCTURE
Preparing viewer…
PDB5A6R · 2.85 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.93LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.64 [0.45–0.93]
RankingsWhere KCTD17 stands among ~20K protein-coding genes
  • #7,784of 20,598
    Most Researched59
  • #3,567of 5,498
    Most Pathogenic Variants5
  • #8,558of 17,882
    Most Constrained (LOEUF)0.93
Genes detectedKCTD17
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
KCTD17-mediated Ras stabilization promotes hepatocellular carcinoma progression.
PMID: 39098817
Clin Mol Hepatol · 2024
1.00
2
Tremor in Primary Monogenic Dystonia.
PMID: 34264428
Curr Neurol Neurosci Rep · 2021
0.90
3
KCTD Proteins Have Redundant Functions in Controlling Cellular Growth.
PMID: 38732215
Int J Mol Sci · 2024
0.80
4
Hepatocyte KCTD17-mediated SERPINA3 inhibition determines liver fibrosis in metabolic dysfunction-associated steatohepatitis.
PMID: 40744994
Exp Mol Med · 2025
0.70
5
Hepatocyte Kctd17 Inhibition Ameliorates Glucose Intolerance and Hepatic Steatosis Caused by Obesity-induced Chrebp Stabilization.
PMID: 36402191
Gastroenterology · 2023
0.60