KCTD20

Chr 6

potassium channel tetramerization domain containing 20

Also known as: C6orf69, dJ108K11.3

NCBI Gene: 222658ENSG00000112078UniProt: Q7Z5Y7

Predicted to enable identical protein binding activity. Predicted to be involved in positive regulation of phosphorylation. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.79
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.79LOEUF
pLI 0.001
Z-score 2.22
OE 0.44 (0.26–0.79)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.19Z-score
OE missense 0.78 (0.70–0.89)
189 obs / 241.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.44 (0.26–0.79)
0≤0.351.4
Missense OE?0.78 (0.70–0.89)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 8 / 18.2Missense obs/exp: 189 / 241.0Syn Z: 0.03

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KCTD20 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients