KCTD8

Chr 4

potassium channel tetramerization domain containing 8

NCBI Gene: 386617ENSG00000183783UniProt: Q6ZWB6OMIM: 618442

Predicted to enable obsolete G protein-coupled neurotransmitter receptor activity involved in regulation of presynaptic membrane potential. Predicted to be involved in regulation of G protein-coupled receptor signaling pathway. Predicted to be located in postsynaptic membrane. Predicted to be part of signaling receptor complex. Predicted to be active in postsynapse and presynaptic active zone membrane. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.12
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.12LOEUF
pLI 0.000
Z-score 1.29
OE 0.60 (0.34–1.12)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.51Z-score
OE missense 0.91 (0.82–1.01)
233 obs / 256.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.60 (0.34–1.12)
0≤0.351.4
Missense OE?0.91 (0.82–1.01)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 7 / 11.8Missense obs/exp: 233 / 256.1Syn Z: 0.27

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KCTD8 · 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