KCTD16

Chr 5

potassium channel tetramerization domain containing 16

NCBI Gene: 57528ENSG00000183775UniProt: Q68DU8

Predicted to enable G protein-coupled neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential; G protein-coupled neurotransmitter receptor activity involved in regulation of presynaptic membrane potential; and identical protein binding activity. Predicted to be involved in regulation of G protein-coupled receptor signaling pathway. Predicted to act upstream of or within behavioral fear response and memory. Predicted to be located in cell projection; plasma membrane; and synapse. Predicted to be part of receptor complex. Predicted to be active in postsynaptic membrane and presynaptic membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.20
LOEUF· LoF intol.
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.20LOEUF
pLI 0.993
Z-score 3.58
OE 0.00 (0.00–0.20)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
1.23Z-score
OE missense 0.78 (0.69–0.88)
191 obs / 245.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.00 (0.00–0.20)
0≤0.351.4
Missense OE?0.78 (0.69–0.88)
0≤0.61.4
Synonymous OE?1.08
0≤1.21.6
LoF obs/exp: 0 / 14.9Missense obs/exp: 191 / 245.3Syn Z: -0.63

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KCTD16 · 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