Property Summary

NCBI Gene PubMed Count 28
Grant Count 22
R01 Count 12
Funding $2,435,791.18
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 0.009

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.
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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.
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