KCTD3

Chr 1q41

potassium channel tetramerization domain containing 3

Aliases:: NY-REN-45
MANE:: ENST00000259154.9

OMIM: 613272 ↗NCBI: 51133 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

KCTD3 · Q9Y597

v62025-08-01

Predicted Aligned Error matrix for KCTD3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

70.3/ 100

Confident

815 residues

Confidence breakdown

Very high(≥ 90)42%
Confident(70–90)17%
Low(50–70)8%
Very low(< 50)33%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

hereditary disease
0.42
Epileptic encephalopathy
0.37
neurodegenerative disease
0.34
esophageal cancer
0.32
Seizure
0.26
Severe global developmental delay
0.26
isolated cerebellar hypoplasia/agenesis
0.26
female reproductive system disorder
0.15
autism
0.12
lysosomal storage disease
0.10

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

BTB/POZ domain-containing protein KCTD3

Accessory subunit of potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3 (HCN3) up-regulating its cell-surface expression and current density without affecting its voltage dependence and kinetics