KCTD16

Chr 5

potassium channel tetramerization domain containing 16

NCBI Gene: 57528 ENSG00000183775 UniProt: Q68DU8 OMIM: 613423

Predicted to enable obsolete G protein-coupled neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential and 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 act upstream of or within behavioral fear response and memory. Predicted to be part of signaling receptor complex. Predicted to be active in postsynaptic membrane and presynaptic membrane. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

OMIM 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.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.20

LOEUF· LoF intol.

—

Mechanism

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

Background carrier burden — how many people carry a rare variant somewhere in KCTD16?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 210

473 rare PASS variants

Rare truncating (LoF)

1 in 18,000

25 rare PASS variants

Rare synonymous (reference)

1 in 180

209 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for KCTD16. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 270	1 in 17,000
South Asian	~43k	1 in 110	≈ 1 in 11,000
Remaining (unassigned)	~30k	1 in 170	≈ 1 in 15,000
European (Finnish)	~27k	1 in 550	≈ 1 in 13,000
Admixed American	~22k	1 in 130	none seen
African / African American	~21k	1 in 130	none seen
East Asian	~20k	1 in 210	none seen
Ashkenazi Jewish	~13k	1 in 350	none seen
Middle Eastern	~2,884	1 in 290	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 2 coding exons well covered in gnomAD exomes and genomes.? see exons ↓