KCTD7
Chr 7ARpotassium channel tetramerization domain containing 7
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)
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
This gene — mechanism propensity
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
KCTD7 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools