KCNV2 antibody
- Known as:
- KCNV2 (anti-)
- Catalog number:
- orb31124
- Product Quantity:
- 100 ug
- Category:
- -
- Supplier:
- Biorb
- Gene target:
- KCNV2 antibody
Related genes to: KCNV2 antibody
- Gene:
- KCNV2 NIH gene
- Name:
- potassium voltage-gated channel modifier subfamily V member 2
- Previous symbol:
- -
- Synonyms:
- Kv8.2
- Chromosome:
- 9p24.2
- Locus Type:
- gene with protein product
- Date approved:
- 2002-11-20
- Date modifiied:
- 2016-02-04
Related products to: KCNV2 antibody
Related articles to: KCNV2 antibody
- KCNV2-associated retinopathy is a rare inherited retinal dystrophy caused by variants in the KCNV2 gene, leading to disrupted photoreceptor behaviour and progressive deterioration of vision. Patients have characteristic electroretinography abnormalities, including reduced cone response, delayed and reduced rod response to low light flashes and paradoxically large rod-driven response to bright flashes of light. To model this condition, we have generated a Kcnv2 E151X mouse line and assessed its structural and functional retinal features. - Source: PubMed
Publication date: 2026/09/01
Xhaferri NerminaBiswas SumitDavies BenjaminLindner Moritz - Voltage-gated potassium channel genes are among the most frequently implicated in epilepsy and antiseizure medication (ASM) response. In this pilot study, we aimed to identify rare and common variants by sequencing voltage-gated potassium channel (Kv) genes in epilepsy patients using ASM, and to reveal the potential drug responses of these variants. To investigate the role of genetic variants in Kv genes (, , , , , and ) in response to ASMs among 31 epilepsy patients, we used targeted next-generation sequencing (tNGS). Patients were classified as responders or persistent based on seizure control status. Selected variants in the genes were annotated, filtered, and analyzed for association with ASM response. We identified 181 variants in the 6 channel genes, including missense, synonymous, intronic, UTR, and stop-gained variants. Six variants of uncertain significance (VUSs) were observed, including c.*1314C>T, c.*976G>A, (c.2613G>T p.Arg871Ser and c.1148+62T>G), and (c.*6282A>G and c.*2860T>C) Two novel variants were identified in our study group, :c.*1314C>T and :c.*2860T>C. Both were located in the 3' UTR region and classified as VUSs according to ACMG guidelines. In the gene, the CG haplotype comprising rs7029012 and rs10967705 was observed more frequently in patients with drug-persistent epilepsy than in those with drug-responsive epilepsy (18.5% vs. 0.8%; χ = 6.756, = 0.009, BH-FDR = 0.036), suggesting a potential association with pharmacoresistant epilepsy. Our haplotype analysis suggests the potential pharmacogenetic contribution of the gene to ASM response; however, these exploratory findings require validation in larger independent cohorts and functional studies. - Source: PubMed
Publication date: 2026/07/29
Pekkoc-Uyanik Kubra CigdemTodurga-Seven Zeynep GizemAgay Erhan RasitUzun Hafize - Cone dystrophy with supernormal rod responses (CDSRR) is a rare autosomal recessive hereditary retinal dystrophy caused by biallelic variants. Accurate prevalence data remain limited because current estimates rely on clinically ascertained cases. This study aimed to estimate its population prevalence by integrating curated variant evidence and large-scale population genomics resources. The key methodological feature of this study is a multi-tiered pathogenicity framework combined with estimation of a biologically plausible prevalence range: Known pathogenic variants define conservative estimates, whereas probably pathogenic variants and strong variants of uncertain significance define broader estimates. Allele frequencies were analyzed in 807,162 individuals from the gnomAD database and 144,127 Russian genomes from GDB and EvogenDB. A Bayesian framework was applied to calculate disease prevalence from aggregated carrier frequencies across predefined variant tiers. Conservative estimates based on known pathogenic variants, were 1 in 343,926 globally and 1 in 1,911,347 in Russia. Including broader tiers increased estimates to 1 in 14,620 and 1 in 32,764, respectively. Compared to previous clinically ascertained prevalence of 1 in 865,000, these estimates define a wider biologically plausible prevalence range and are consistent with possible clinical underascertainment. This tier-based approach accounts for uncertainty in variant classification when estimating rare disease prevalence. - Source: PubMed
Publication date: 2026/06/30
Rozhkova Anastasiia VRutkovskaya Ekaterina AKadyshev Vitaly VEsibov Anton AAlsalloum AlmaqdadKuznetsova Ekaterina SKrupinova Julia AMityaeva Olga NShefer Kristina KBoiko Ernest VSagaydak Olesya VDoroshchuk Natalya AMakarova Maria VWoroncow MaryBogdanov Viktor PVolchkov Pavel Y - The electronegative electroretinogram (ERG)-in which the dark-adapted bright-flash b-wave amplitude falls below the a-wave (b: a ratio < 1.0)-localizes dysfunction to the inner retina or photoreceptor-bipolar synapse. In inherited retinal disease (IRD), this waveform has been associated with a restricted set of genetic etiologies, but the evidence has not been systematically synthesized. - Source: PubMed
Publication date: 2026/05/09
Taha IbrahimHuraibat KhalilAl-Labadi Liana - Photoreceptors are highly energy-demanding neurons, and disruption of photoreceptor signaling remodels retinal metabolism and contributes to degeneration, yet the pathways underlying these changes remain incompletely defined. Kv8.2 knockout (KO) mice, a model of KCNV2 retinopathy, exhibit impaired photoreceptor ion homeostasis and slow rod degeneration, providing an opportunity to investigate metabolic adaptation during progressive dysfunction. Untargeted metabolomic profiling was performed on retinas from wildtype (WT) and Kv8.2 KO mice at 1 and 13 months of age. Principal component analysis revealed distinct profiles for aged Kv8.2 KO retinas compared with aged WT and young groups, while young WT and KO retinas were metabolically similar. The major changes in aged Kv8.2 KO retinas compared to aged WT were reduced nucleobases and nucleosides while the amino acids homocysteine, methionine, and serine were elevated. These are signature metabolites in one-carbon metabolism, a metabolic hub influencing nucleotide metabolism, epigenic regulation, and anti-oxidant defense. Supervised modeling showed that these one-carbon-related changes emerge early and progress with age in Kv8.2 KO retinas. Together, these findings implicate altered one-carbon metabolism as a key mechanism in photoreceptor vulnerability and adaptation in slow retinal degeneration. - Source: PubMed
Kruth KarinaBaker Sheila A