Recombinant Human Potassium voltage-gated channel subfamily V member 2 (KCNV2)

1. Pharmacogenetic and case-control study evaluated the role of the variants of KCNA1, KCNA2, and KCNV2 in the susceptibility and drug resistance of genetic generalized epilepsies and revealed no significant association between 8 variants of KCNA1, KCNA2, and KCNV2 genes and risk or drug resistance of genetic generalized epilepsies after a Bonferroni correction for multiple comparisons. PMID: 28658141
2. The 2 mutations identified are novel and thus expand the current knowledge of Retinal Cone Dystrophy 3B genotype-phenotype descriptions in the literature. PMID: 24029832
3. This is the first report of genetic and clinical analysis of cone dystrophy with supernormal rod response in the Israeli population leading to the identification of 4 novel KCNV2 mutations. PMID: 23725738
4. Compound heterozygosity for the two alleles of KCNV2, p.C177R and p.G461R, in three patients, and homozygosity for complex alleles, p.R27H and p.R206P, in one patient from the consanguineous family, is reported. PMID: 23885164
5. Central vision parameters progressively worsen in KCNV2 cone dystrophy, structural retinal and lipofuscin accumulation abnormalities are commonly present and macular cone photoreceptor mosaic is markedly disrupted early in the disease. PMID: 23221069
6. KCNV2 mutations cause a unique form of retinal disorder illustrating the importance of K(+)-channels for the resting potential, activation and deactivation of photoreceptors, while phototransduction remains unchanged PMID: 23077521
7. important finding leading to identification of KCNV2 as a candidate gene for causative mutations was the characteristic pattern of findings on full field ERGs. PMID: 23143909
8. two pore mutations (W467G and G478R) led to the formation of nonconducting heteromeric Kv2.1/Kv8.2 channels PMID: 23115240
9. For all patients, KCNV2 sequencing revealed one of three homozygous recessive mutations PMID: 21900228
10. In this study, we found that KCNV2 mutations are present in a substantial fraction (2.2-4.3%) of a sample of 367 independent patients with a variety of initial clinical diagnoses of cone malfunctino. PMID: 21882291
11. In KCNV2 retinopathy foveal morphological changes are evident on SD-OCT even in the early stages of disease. PMID: 21558291
12. Early ocular phenotype in siblings with a homozygous p.G461R mutation in the KCNV2 gene presented nystagmus, increased light sensitivity, reduced color discrimination, and relative central scotomas. PMID: 21911584
13. Results demonstrate that altered potassium subunit function influences epilepsy susceptibility and implicate Kcnv2 as an epilepsy gene. PMID: 21402906
14. Individuals with mutations in KCNV2 manifest a wide range of macular and autofluorescence abnormalities. PMID: 19952985
15. Mutations mapped to KCNV2 are responsible for cone dystrophy with supernormal rod electoretinogram. PMID: 16909397
16. KCNV2 mutations account for most if not all cases of cone dystrophy with a supernormal rod electroretinography. We found 1 frameshift, 2 nonsense, 1 non-stop, and 6 missense mutations. PMID: 17896311
17. The phenotype of cone dystrophy with supernormal rod response is tightly linked with mutations in KCNV2. PMID: 18235024
18. The three novel truncative mutations are likely to be null mutations leading to loss of function, with no difference in the phenotype presentation. PMID: 18400204
19. Kv11.1 (ERG1) K+ channels localize in cholesterol and sphingolipid enriched membranes and are modulated by membrane cholesterol. PMID: 18708743

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HGNC: 19698

OMIM: 607604

KEGG: hsa:169522

STRING: 9606.ENSP00000371514

UniGene: Hs.622675