Property Summary

NCBI Gene PubMed Count 28
PubMed Score 24.05
PubTator Score 45.83

Knowledge Summary

Patent (1,207)

Expression

  Differential Expression (1)

Disease log2 FC p
medulloblastoma, large-cell 1.600 8.8e-03

Gene RIF (19)

PMID Text
24029832 The 2 mutations identified are novel and thus expand the current knowledge of Retinal Cone Dystrophy 3B genotype-phenotype descriptions in the literature.
23885164 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.
23725738 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.
23221069 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.
23143909 important finding leading to identification of KCNV2 as a candidate gene for causative mutations was the characteristic pattern of findings on full field ERGs.
23115240 two pore mutations (W467G and G478R) led to the formation of nonconducting heteromeric Kv2.1/Kv8.2 channels
23077521 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
21911584 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.
21900228 For all patients, KCNV2 sequencing revealed one of three homozygous recessive mutations
21882291 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.
21558291 In KCNV2 retinopathy foveal morphological changes are evident on SD-OCT even in the early stages of disease.
21402906 Results demonstrate that altered potassium subunit function influences epilepsy susceptibility and implicate Kcnv2 as an epilepsy gene.
19952985 Individuals with mutations in KCNV2 manifest a wide range of macular and autofluorescence abnormalities.
18708743 Kv11.1 (ERG1) K+ channels localize in cholesterol and sphingolipid enriched membranes and are modulated by membrane cholesterol.
18400204 The three novel truncative mutations are likely to be null mutations leading to loss of function, with no difference in the phenotype presentation.
18235024 The phenotype of cone dystrophy with supernormal rod response is tightly linked with mutations in KCNV2.
17896311 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.
16909397 Mutations mapped to KCNV2 are responsible for cone dystrophy with supernormal rod electoretinogram.
12060745 Obligatory heterotetramerization of three previously uncharacterized Kv channel subunits identified in human genome (Kv6.3)(Kv10.1) (Kv11.1)

AA Sequence

MLKQSERRRSWSYRPWNTTENEGSQHRRSICSLGARSGSQASIHGWTEGNYNYYIEEDEDGEEEDQWKDD      1 - 70
LAEEDQQAGEVTTAKPEGPSDPPALLSTLNVNVGGHSYQLDYCELAGFPKTRLGRLATSTSRSRQLSLCD     71 - 140
DYEEQTDEYFFDRDPAVFQLVYNFYLSGVLLVLDGLCPRRFLEELGYWGVRLKYTPRCCRICFEERRDEL    141 - 210
SERLKIQHELRAQAQVEEAEELFRDMRFYGPQRRRLWNLMEKPFSSVAAKAIGVASSTFVLVSVVALALN    211 - 280
TVEEMQQHSGQGEGGPDLRPILEHVEMLCMGFFTLEYLLRLASTPDLRRFARSALNLVDLVAILPLYLQL    281 - 350
LLECFTGEGHQRGQTVGSVGKVGQVLRVMRLMRIFRILKLARHSTGLRAFGFTLRQCYQQVGCLLLFIAM    351 - 420
GIFTFSAAVYSVEHDVPSTNFTTIPHSWWWAAVSISTVGYGDMYPETHLGRFFAFLCIAFGIILNGMPIS    421 - 490
ILYNKFSDYYSKLKAYEYTTIRRERGEVNFMQRARKKIAECLLGSNPQLTPRQEN                   491 - 545
//

Text Mined References (28)

PMID Year Title
24029832 2013 Novel compound heterozygous mutations resulting in cone dystrophy with supernormal rod response.
23885164 2013 Molecular characteristics of four Japanese cases with KCNV2 retinopathy: report of novel disease-causing variants.
23725738 2013 Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype.
23720494 2013 Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
23221069 2013 Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related "cone dystrophy with supernormal rod electroretinogram".
23143909 2013 Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family.
23115240 2012 Functional analysis of missense mutations in Kv8.2 causing cone dystrophy with supernormal rod electroretinogram.
23077521 2012 Rod and cone function in patients with KCNV2 retinopathy.
22005931 2012 Genome-wide association analysis of age-at-onset in Alzheimer's disease.
21911584 2011 Long-term follow-up of the human phenotype in three siblings with cone dystrophy associated with a homozygous p.G461R mutation of KCNV2.
21900228 2012 'Cone dystrophy with supranormal rod response' in children.
21882291 2011 Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.
21757650 2011 Identification of cis- and trans-acting genetic variants explaining up to half the variation in circulating vascular endothelial growth factor levels.
21558291 2012 High-resolution optical coherence tomography imaging in KCNV2 retinopathy.
21402906 2011 Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility.
19952985 2010 "Cone dystrophy with supernormal rod electroretinogram": a comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology.
18708743 Kv11.1 (ERG1) K+ channels localize in cholesterol and sphingolipid enriched membranes and are modulated by membrane cholesterol.
18400204 2008 Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram.
18235024 2008 Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.
17896311 2007 Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram.
16909397 2006 Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans.
16382104 2005 International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15164053 2004 DNA sequence and analysis of human chromosome 9.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12107411 2002 Expressed sequence tag analysis of human retina for the NEIBank Project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts.
12060745 2002 Obligatory heterotetramerization of three previously uncharacterized Kv channel alpha-subunits identified in the human genome.