KCNV2
Chr 9ARpotassium voltage-gated channel modifier subfamily V member 2
Also known as: CDSRR, KV11.1, Kv8.2, RCD3B
This gene encodes a voltage-gated potassium channel subunit that modulates channel activity by shifting activation thresholds to more negative values and forms heteromultimers with other potassium channel subunits rather than functioning alone. Biallelic mutations cause cone dystrophy with supernormal rod responses, an autosomal recessive retinal disorder. The gene shows tolerance to loss-of-function variants (high LOEUF score), suggesting the pathogenic variants may have effects beyond simple protein loss.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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
KCNV2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools