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5 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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KCTD18
potassium channel tetramerization domain containing 18
Chromosome 2 · 2q33.1
NCBI Gene: 130535Ensembl: ENSG00000155729.14HGNC: HGNC:26446UniProt: A8K4A2
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Swiss-Prot Reviewed
identical protein bindingprotein homooligomerizationmajor salivary gland cancernontoxic goitermultinodular goiterMyasthenia gravis
✦AI Summary

KCTD18 (potassium channel tetramerization domain containing 18) is a potassium channel-related gene located on chromosome 2 that appears to function as a regulator of cell proliferation. In a genome-wide association study of adipocyte biology, KCTD18 was identified as a regulator of fat cell proliferation through functional knockdown experiments in human adipose-derived stem cells, with genetic variants showing association with fat cell number at suggestive significance levels (P < 1.00 × 10-5) 1. The gene has been implicated in restless legs syndrome (RLS), where a shared haplotype spanning KCTD18 and SPATS2L was identified in three linked families with RLS4 locus on chromosome 2, with fine-mapping narrowing the candidate region to 46.9 Kb over KCTD18 2. KCTD18 missense mutations were significantly associated with glaucoma medication non-adherence in whole exome sequencing analysis (p < 10-3) 3. Additionally, KCTD18 was identified as a potential driver gene in primary signet ring cell carcinoma of the bladder 4. Duplication of KCTD18 in a 19.5 Mb chr2 region has been associated with neurological phenotypes including developmental delay, epilepsy, and autistic behavior, suggesting potential dosage sensitivity 5. These findings collectively indicate KCTD18 involvement in cell proliferation regulation and multiple disease pathways, though specific molecular mechanisms remain incompletely characterized.

Sources cited
1
KCTD18 identified as regulator of fat cell proliferation through siRNA knockdown in human adipose-derived stem cells, with genetic variants associating with fat cell number
PMID: 35320353
2
KCTD18 fine-mapped within RLS4 locus on chromosome 2q33 as part of shared haplotype in restless legs syndrome families
PMID: 23054586
3
KCTD18 missense mutations significantly associated with glaucoma medication non-adherence by whole exome sequencing
PMID: 36982708
4
KCTD18 identified as potential driver gene in primary signet ring cell carcinoma of bladder
PMID: 36779496
5
KCTD18 duplication associated with developmental delay, epilepsy, and autistic behavior in chromosomal 2q32.1-q33.3 duplication
PMID: 23463730
Disease Associationsⓘ20
major salivary gland cancerOpen Targets
0.29Weak
nontoxic goiterOpen Targets
0.16Weak
multinodular goiterOpen Targets
0.13Weak
Myasthenia gravisOpen Targets
0.05Suggestive
esophageal ulcerOpen Targets
0.04Suggestive
male infertilityOpen Targets
0.03Suggestive
attention deficit hyperactivity disorderOpen Targets
0.02Suggestive
substance abuseOpen Targets
0.02Suggestive
diabetes mellitusOpen Targets
0.01Suggestive
acute disseminated encephalomyelitisOpen Targets
0.00Suggestive
infectionOpen Targets
0.00Suggestive
restless legs syndromeOpen Targets
0.00Suggestive
Sleep DisorderOpen Targets
0.00Suggestive
IGA glomerulonephritisOpen Targets
0.00Suggestive
glaucomaOpen Targets
0.00Suggestive
epilepsyOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
type 1 diabetes mellitusOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KCTD3Shared pathway100%IKZF4Shared pathway100%KCTD14Shared pathway100%KCTD15Shared pathway100%SAMD1Shared pathway100%KCTD4Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
88%
Ovary
79%
Brain
74%
Liver
67%
Lung
59%
Gene Interaction Network
Click a node to explore
KCTD18KCTD3IKZF4KCTD14KCTD15SAMD1KCTD4
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q6PI47
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.27LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.82 [0.55–1.27]
RankingsWhere KCTD18 stands among ~20K protein-coding genes
  • #14,452of 20,598
    Most Researched19
  • #13,401of 17,882
    Most Constrained (LOEUF)1.27
Genes detectedKCTD18
Sources retrieved5 papers
Response time—
📄 Sources
5
1
Heritable Risk and Protective Genetic Components of Glaucoma Medication Non-Adherence.
PMID: 36982708
Int J Mol Sci · 2023
1.00
2
Genome-Wide Association Study Identifies Genetic Loci Associated With Fat Cell Number and Overlap With Genetic Risk Loci for Type 2 Diabetes.
PMID: 35320353
Diabetes · 2022
0.80
3
Fine-mapping of restless legs locus 4 (RLS4) identifies a haplotype over the SPATS2L and KCTD18 genes.
PMID: 23054586
J Mol Neurosci · 2013
0.60
4
Molecular genetic and clinical characteristic analysis of primary signet ring cell carcinoma of urinary bladder identified by a novel OR2L5 mutation.
PMID: 36779496
Cancer Med · 2023
0.40
5
Interstitial duplication of 2q32.1-q33.3 in a patient with epilepsy, developmental delay, and autistic behavior.
PMID: 23463730
Am J Med Genet A · 2013
0.20