KCTD7

Chr 7q11.21

potassium channel tetramerization domain containing 7

Aliases:: FLJ32069, EPM3, CLN14
MANE:: ENST00000639828.2

OMIM: 611725 ↗NCBI: 154881 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

KCTD7 · Q96MP8

v62025-08-01

Predicted Aligned Error matrix for KCTD7 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

81.1/ 100

Confident

289 residues

Confidence breakdown

Very high(≥ 90)64%
Confident(70–90)10%
Low(50–70)5%
Very low(< 50)21%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Neuronal ceroid lipofuscinosis
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Glaucoma (developmental)
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Retinal disorders

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Disease associations (Open Targets)

progressive myoclonic epilepsy type 3
0.81
neuronal ceroid lipofuscinosis
0.66
hereditary disease
0.48
infantile neuronal ceroid lipofuscinosis
0.47
progressive myoclonus epilepsy
0.47
Progressive myoclonic epilepsy
0.44
Unverricht-Lundborg disease
0.37
Intellectual disability
0.33
Epileptic encephalopathy
0.32
Abnormal nasolacrimal system morphology
0.30

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

Protein function (UniProt)

BTB/POZ domain-containing protein KCTD7

Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that mediates the ubiquitination of multiple substrates, leading to either their proteasomal or lysosomal degradation, or modulating their activity through non-degradative ubiquitination (PubMed:36964131, PubMed:35921411). Regulates voltage-gated potassium channels, thereby modulating hyperpolarizing potassium currents in neurons and inducing potassium-dependent membrane hyperpolarization. Also regulates the neuronal glutamine transporter SLC38A2/SAT2, influencing neurotransmitter precursor availability (PubMed:27742667). Regulates calpain activity via atypical, non-degradative ubiquitination by mediating ubiquitination of CAPN1 via 'Lys6'-, 'Lys27'-, 'Lys29'-, and 'Lys63'-linked chains, and CAPN2 via 'Lys6'-linked chains, thereby preventing calpain autolysis (PubMed:36964131). Promotes lysosomal enzyme trafficking and maintains lysosomal function by acting as an endogenous regulator of CLN5, enhancing its ubiquitination and proteasomal degradation (PubMed:35921411)