HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KCNV2
potassium voltage-gated channel modifier subfamily V member 2
Chromosome 9 Β· 9p24.2
NCBI Gene: 169522Ensembl: ENSG00000168263.9HGNC: HGNC:19698UniProt: Q8TDN2
47PubMed Papers
21Diseases
7Drugs
81Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
RESEARCH IMPACT
Variant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingpotassium ion transmembrane transportaction potentialmembranecone dystrophy with supernormal rod responsecone dystrophymultiple sclerosisMyasthenia gravis
✦AI Summary

KCNV2 encodes Kv8.2, an electrically silent voltage-gated potassium channel subunit expressed in photoreceptor inner segments 1. This protein functions as a potassium channel modulator, shifting the activation threshold of K+ channels to more negative values, thereby regulating channel activity in photoreceptors. KCNV2 mutations cause cone dystrophy with supernormal rod response (CDSRR), an autosomal recessive cone-rod dystrophy characterized by pathognomonic electroretinogram findings 2. Patients with KCNV2-associated retinopathy typically present before age 12 with severely decreased visual acuity affecting all patients, reduced color vision (78.6%), photophobia (53.5%), nyctalopia (43.6%), and nystagmus (38.6%) 3. KCNV2-deficient photoreceptors show upregulation of genes associated with apoptosis, oxidative stress, and hypoxia pathways 1, suggesting the primary dysfunction involves photoreceptor degeneration rather than cardiac complications. The disease demonstrates slow peripheral retinal progression with largely stable electrophysiologic findings across 6 decades 3. Currently, no treatment is available, but the identification of a potential intervention window until age 40 4 combined with recent development of gene therapy vectors 1 suggests therapeutic prospects are emerging.

Sources cited
1
KCNV2 encodes Kv8.2, an electrically silent voltage-gated potassium channel subunit expressed in photoreceptors; KCNV2-deficient photoreceptors show upregulation of apoptosis, oxidative stress, and hypoxia pathway genes
PMID: 41516321
2
KCNV2-associated retinopathy is autosomal recessive cone-rod dystrophy with pathognomonic ERG findings; Kv8.2 acts as modulator shifting K+ channel activation range
PMID: 32441199
3
KCNV2-associated retinopathy symptoms include decreased visual acuity (100%), reduced color vision (78.6%), photophobia (53.5%), nyctalopia (43.6%), nystagmus (38.6%); mean onset age 3.9 years; electrophysiology largely stable across 6 decades
PMID: 33309813
4
KCNV2-associated retinopathy is slowly progressive disease with symmetric changes between eyes; potential intervention window identified until age 40
PMID: 33737031
5
KCNV2 is associated with cone and cone-rod dystrophies among inherited retinal diseases
PMID: 38278208
6
KCNV2 mutations cause cone dystrophy with supernormal rod response with color vision defects, decreased visual acuity, and specific electroretinogram response changes
PMID: 37121194
7
KCNV2 pathogenic variants cause cone dystrophy with supernormal rod response leading to poor visual acuity, photophobia, and maculopathy
PMID: 39083856
Disease Associationsβ“˜21
cone dystrophy with supernormal rod responseOpen Targets
0.78Strong
cone dystrophyOpen Targets
0.62Moderate
multiple sclerosisOpen Targets
0.59Moderate
Myasthenia gravisOpen Targets
0.59Moderate
Retinal dystrophyOpen Targets
0.56Moderate
Lambert-Eaton myasthenic syndromeOpen Targets
0.55Moderate
cone dystrophy 3Open Targets
0.46Moderate
Muscle weaknessOpen Targets
0.46Moderate
congenital myasthenic syndromeOpen Targets
0.43Moderate
Congenital myasthenic syndromesOpen Targets
0.43Moderate
Cone rod dystrophyOpen Targets
0.43Moderate
cone-rod dystrophyOpen Targets
0.43Moderate
neoplasmOpen Targets
0.38Weak
cancerOpen Targets
0.38Weak
cardiac arrhythmiaOpen Targets
0.37Weak
eye diseaseOpen Targets
0.37Weak
Increased muscle fatiguabilityOpen Targets
0.37Weak
nervous system diseaseOpen Targets
0.37Weak
neuromuscular junction diseaseOpen Targets
0.37Weak
paraneoplastic neurologic syndromeOpen Targets
0.37Weak
Cone dystrophy with supernormal rod responsesUniProt
Pathogenic Variants81
NM_133497.4(KCNV2):c.778A>T (p.Lys260Ter)Pathogenic
not provided|Cone dystrophy|Retinal dystrophy|Cone dystrophy with supernormal rod response
β˜…β˜…β˜†β˜†2026β†’ Residue 260
NM_133497.4(KCNV2):c.1381G>A (p.Gly461Arg)Pathogenic
Cone dystrophy with supernormal rod response|Retinal dystrophy|not provided|Abnormality of the nervous system;Nystagmus|KCNV2-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 461
NM_133497.4(KCNV2):c.339C>A (p.Cys113Ter)Pathogenic
Retinal dystrophy|Cone dystrophy with supernormal rod response|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 113
NM_133497.4(KCNV2):c.866C>A (p.Ser289Ter)Pathogenic
not provided|Cone dystrophy with supernormal rod response
β˜…β˜…β˜†β˜†2026β†’ Residue 289
NM_133497.4(KCNV2):c.200G>A (p.Trp67Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 67
NM_133497.4(KCNV2):c.417C>A (p.Cys139Ter)Pathogenic
not provided|Cone dystrophy with supernormal rod response
β˜…β˜…β˜†β˜†2025β†’ Residue 139
NM_133497.4(KCNV2):c.442G>T (p.Glu148Ter)Pathogenic
Cone dystrophy with supernormal rod response|not provided|KCNV2-related disorder|Retinal dystrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 148
NM_133497.4(KCNV2):c.625G>T (p.Glu209Ter)Pathogenic
not provided|Cone dystrophy with supernormal rod response
β˜…β˜…β˜†β˜†2025β†’ Residue 209
NM_133497.4(KCNV2):c.995_996dup (p.Ser333fs)Pathogenic
cone dystrophy with supernormal rod electroretinogram|not provided|Cone dystrophy with supernormal rod response
β˜…β˜…β˜†β˜†2025β†’ Residue 333
NM_133497.4(KCNV2):c.325C>T (p.Gln109Ter)Pathogenic
not provided|Cone dystrophy with supernormal rod response
β˜…β˜…β˜†β˜†2025β†’ Residue 109
NM_133497.4(KCNV2):c.427G>T (p.Glu143Ter)Pathogenic
Cone dystrophy with supernormal rod response|not provided|KCNV2-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 143
NM_133497.4(KCNV2):c.531T>A (p.Cys177Ter)Pathogenic
not provided|Cone dystrophy with supernormal rod response
β˜…β˜…β˜†β˜†2025β†’ Residue 177
NM_133497.4(KCNV2):c.958C>T (p.Arg320Cys)Pathogenic
cone dystrophy with supernormal rod electroretinogram|not provided|Cone dystrophy with supernormal rod response
β˜…β˜…β˜†β˜†2025β†’ Residue 320
NM_133497.4(KCNV2):c.8_11del (p.Lys3fs)Pathogenic
Cone dystrophy with supernormal rod response|not provided|Retinal dystrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 3
NM_133497.4(KCNV2):c.530G>C (p.Cys177Ser)Likely pathogenic
not provided|Retinal dystrophy
β˜…β˜…β˜†β˜†2024β†’ Residue 177
NM_133497.4(KCNV2):c.1186G>T (p.Gly396Ter)Pathogenic
not provided|Cone dystrophy
β˜…β˜…β˜†β˜†2023β†’ Residue 396
NM_133497.4(KCNV2):c.1096del (p.Val366fs)Pathogenic
Cone dystrophy with supernormal rod response|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 366
NM_133497.4(KCNV2):c.19_20del (p.Arg7fs)Pathogenic
not provided|Retinal dystrophy
β˜…β˜…β˜†β˜†2022β†’ Residue 7
NM_133497.4(KCNV2):c.982_1000del (p.Arg328fs)Pathogenic
Retinal dystrophy|not provided
β˜…β˜…β˜†β˜†2020β†’ Residue 328
NM_133497.4(KCNV2):c.1356+3_1356+6delPathogenic
Cone dystrophy|Retinal dystrophy
β˜…β˜…β˜†β˜†2020
View on ClinVar β†—
Drug Targets7
AMIFAMPRIDINEApproved
Voltage-gated potassium channel blocker
Myasthenia gravis
AMIFAMPRIDINE PHOSPHATEApproved
Voltage-gated potassium channel blocker
Lambert-Eaton myasthenic syndrome
DALFAMPRIDINEApproved
Voltage-gated potassium channel blocker
multiple sclerosis
GUANIDINEPhase III
Voltage-gated potassium channel blocker
neuroendocrine neoplasm
GUANIDINE HYDROCHLORIDEApproved
Voltage-gated potassium channel blocker
Myasthenia gravis
NERISPIRDINEPhase II
Voltage-gated potassium channel blocker
multiple sclerosis
TEDISAMILApproved
Voltage-gated potassium channel blocker
cardiac arrhythmia
Related Genes
KCNA3Shared pathway100%KCNA6Shared pathway100%KCNA7Shared pathway100%KCNA10Shared pathway100%KCND1Shared pathway100%KCNV1Shared pathway100%
Tissue Expression6 tissues
Ovary
100%
Lung
31%
Liver
31%
Brain
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
KCNV2KCNA3KCNA6KCNA7KCNA10KCND1KCNV1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8TDN2
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.96LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.77 [1.45–1.96]
RankingsWhere KCNV2 stands among ~20K protein-coding genes
  • #9,224of 20,598
    Most Researched47
  • #321of 1,025
    FDA-Approved Drug Targets5
  • #923of 5,498
    Most Pathogenic Variants81 Β· top quartile
  • #17,764of 17,882
    Most Constrained (LOEUF)1.96
Genes detectedKCNV2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.
PMID: 38278208
Prog Retin Eye Res Β· 2024
1.00
2
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
PMID: 15840476
Heart Rhythm Β· 2005
0.90
3
Generation of two human induced pluripotent stem cell lines (ABi001-A and ABi002-A) from cone dystrophy with supernormal rod response patients caused by KCNV2 mutation.
PMID: 37121194
Stem Cell Res Β· 2023
0.80
4
KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1.
PMID: 33309813
Am J Ophthalmol Β· 2021
0.70
5
PMID: 32441199
Ophthalmic Genet Β· 2020
0.60