Property Summary

NCBI Gene PubMed Count 16
Grant Count 7
R01 Count 3
Funding $747,797.4
PubMed Score 31.56
PubTator Score 10.69

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
psoriasis -1.700 0.000
osteosarcoma -2.492 0.000
medulloblastoma, large-cell -1.100 0.000
group 4 medulloblastoma 1.100 0.000
mucosa-associated lymphoid tissue lympho... 1.040 0.032

Gene RIF (5)

PMID Text
25060828 This study identified that novel KCTD7 mutation in patients with progressive myoclonus epilepsy with ataxia.
22944692 Positional proteomics analysis identifies the cleavage of human potassium channel tetramerisation domain containing 7 (KCTD7) at amino acid residues 510-511 by the HIV-1 protease
22748208 this study clearly demonstrates that KCTD7 mutations also cause a rare, infantile-onset NCL subtype designated as CLN14.
22693283 The KCTD7 gene, previously associated with progressive myoclonus epilepsies (PMEs) in a single inbred family, was screened for mutations in 18 Turkish PME patients.
17455289 We found a C to T mutation in exon 2 of the potassium channel tetramerization domain containing 7 gene(KCTD7)in a progressive myoclonic epilepsy family affecting a highly conserved segment of the predicted protein changing an arginine codon to a stop.

AA Sequence

MVVVTGREPDSRRQDGAMSSSDAEDDFLEPATPTATQAGHALPLLPQEFPEVVPLNIGGAHFTTRLSTLR      1 - 70
CYEDTMLAAMFSGRHYIPTDSEGRYFIDRDGTHFGDVLNFLRSGDLPPRERVRAVYKEAQYYAIGPLLEQ     71 - 140
LENMQPLKGEKVRQAFLGLMPYYKDHLERIVEIARLRAVQRKARFAKLKVCVFKEEMPITPYECPLLNSL    141 - 210
RFERSESDGQLFEHHCEVDVSFGPWEAVADVYDLLHCLVTDLSAQGLTVDHQCIGVCDKHLVNHYYCKRP    211 - 280
IYEFKITWW                                                                 281 - 289
//

Text Mined References (17)

PMID Year Title
25293881 2015 The contribution of common genetic variation to nicotine and cotinine glucuronidation in multiple ethnic/racial populations.
25060828 2014 Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia.
22748208 2012 A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.
22693283 2012 Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.
22638565 2012 A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome.
22612257 2012 Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
22606975 2012 Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy.
21223598 2011 Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study.
17455289 2007 Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.
16368877 2006 Genomic annotation of 15,809 ESTs identified from pooled early gestation human eyes.
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