Property Summary

NCBI Gene PubMed Count 81
Grant Count 26
R01 Count 6
Funding $2,551,379.07
PubMed Score 217.86
PubTator Score 190.32

Knowledge Summary

Patent (1,205)

Expression

Gene RIF (53)

PMID Text
27117801 we carefully investigated the functional effects of four CLC-5 mutations, including three missense mutations (S244L, R345W, T657S) and one nonsense mutation (Q629X)
25907713 Previously reported mutations and their associated phenotype in 377 male patients with Dent disease are reviewed and described phenotype and novel and recurrent mutations in a large cohort of 117 Dent disease patients belonging to 90 families.
25124980 A novel mutation in the CLCN5 gene was identified in our patient with Dent's disease.
25001568 structural complexity of the CLCN5 5'UTR region
24428215 study described a single Chinese family with Dent disease, and findings suggest that a novel frameshift mutation (c. 246delG) in exon 5 of the CLCN5 gene was responsible for Dent disease in this case
24099800 These results elucidate the biophysical properties of ClC-5 and contribute to the understanding of its physiological role.
24081861 Dent disease is caused by mutations in at least two genes, i.e. CLCN5 and OCRL1, and its genetic background and phenotypes are common among European countries and the USA.
23572577 Dent disease-causing CLC-5 mutations have differing effects on endosomal acidification and receptor-mediated endocytosis that may not be coupled.
23566014 Certain misprocessing mutations in CLC-5 chloride channels alter intramolecular interactions within the full-length protein, ensuring that they do not elicit the unfolded protein response.
23211344 Case Report: computer simulation analysis of CIC-5 missense mutations in Dent's disease.
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AA Sequence

MDFLEEPIPGVGTYDDFNTIDWVREKSRDRDRHREITNKSKESTWALIHSVSDAFSGWLLMLLIGLLSGS      1 - 70
LAGLIDISAHWMTDLKEGICTGGFWFNHEHCCWNSEHVTFEERDKCPEWNSWSQLIISTDEGAFAYIVNY     71 - 140
FMYVLWALLFAFLAVSLVKVFAPYACGSGIPEIKTILSGFIIRGYLGKWTLVIKTITLVLAVSSGLSLGK    141 - 210
EGPLVHVACCCGNILCHCFNKYRKNEAKRREVLSAAAAAGVSVAFGAPIGGVLFSLEEVSYYFPLKTLWR    211 - 280
SFFAALVAAFTLRSINPFGNSRLVLFYVEFHTPWHLFELVPFILLGIFGGLWGALFIRTNIAWCRKRKTT    281 - 350
QLGKYPVIEVLVVTAITAILAFPNEYTRMSTSELISELFNDCGLLDSSKLCDYENRFNTSKGGELPDRPA    351 - 420
GVGVYSAMWQLALTLILKIVITIFTFGMKIPSGLFIPSMAVGAIAGRLLGVGMEQLAYYHQEWTVFNSWC    421 - 490
SQGADCITPGLYAMVGAAACLGGVTRMTVSLVVIMFELTGGLEYIVPLMAAAMTSKWVADALGREGIYDA    491 - 560
HIRLNGYPFLEAKEEFAHKTLAMDVMKPRRNDPLLTVLTQDSMTVEDVETIISETTYSGFPVVVSRESQR    561 - 630
LVGFVLRRDLIISIENARKKQDGVVSTSIIYFTEHSPPLPPYTPPTLKLRNILDLSPFTVTDLTPMEIVV    631 - 700
DIFRKLGLRQCLVTHNGRLLGIITKKDVLKHIAQMANQDPDSILFN                            701 - 746
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Text Mined References (86)

PMID Year Title
27117801 2016 Functional and transport analyses of CLCN5 genetic changes identified in Dent disease patients.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25907713 2015 Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.
25124980 2014 A novel CLCN5 mutation in a Chinese boy with Dent's disease.
25001568 2014 Complexity of the 5'UTR region of the CLCN5 gene: eleven 5'UTR ends are differentially expressed in the human kidney.
24428215 2014 Identification of a novel mutation in the CLCN5 gene in a Chinese family with Dent-1 disease.
24099800 2013 A single point mutation reveals gating of the human ClC-5 Cl-/H+ antiporter.
24081861 2014 Japanese Dent disease has a wider clinical spectrum than Dent disease in Europe/USA: genetic and clinical studies of 86 unrelated patients with low-molecular-weight proteinuria.
23572577 2013 Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients.
23566014 2013 Conformational defects underlie proteasomal degradation of Dent's disease-causing mutants of ClC-5.
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