KCTD17

Chr 22q12.3

potassium channel tetramerization domain containing 17

Aliases:: FLJ12242
MANE:: ENST00000403888.8

OMIM: 616386 ↗NCBI: 79734 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

KCTD17 · Q8N5Z5

v62025-08-01

Predicted Aligned Error matrix for KCTD17 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

70.4/ 100

Confident

314 residues

Confidence breakdown

Very high(≥ 90)39%
Confident(70–90)8%
Low(50–70)28%
Very low(< 50)25%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Childhood onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

myoclonic dystonia 26
0.67
myoclonus-dystonia syndrome
0.37
poisoning
0.19
hereditary disease
0.19
hepatocellular carcinoma
0.08
neoplasm
0.07
Hepatic fibrosis
0.07
metabolic dysfunction-associated steatohepatitis
0.06
placenta praevia
0.05
anemia (phenotype)
0.04

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

Protein function (UniProt)

BTB/POZ domain-containing protein KCTD17

Substrate-adapter for CUL3-RING ubiquitin ligase complexes which mediates the ubiquitination and subsequent proteasomal degradation of TCHP, a protein involved in ciliogenesis down-regulation. Thereby, positively regulates ciliogenesis, playing a crucial role in the initial steps of axoneme extension (PubMed:25270598). May also play a role in endoplasmic reticulum calcium ion homeostasis (PubMed:25983243)