Property Summary

NCBI Gene PubMed Count 39
Grant Count 11
R01 Count 6
Funding $653,568.58
PubMed Score 99.52
PubTator Score 79.29

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
ovarian cancer 1.400 0.000
psoriasis -1.500 0.000

Gene RIF (22)

PMID Text
25557732 1,25(OH)2 VitD transcriptionally inhibits renal claudin-16 expression by a mechanism sensitive to CaSR and Mg(2+).
25477417 CLDN16 mutations are associated with familial hypomagnesaemia with hypercalciuria and nephrocalcinosis.
24659781 These results suggest that STX8 mediates the recycling of CLDN16 and constitutes an important component of the CLDN16 trafficking machinery in the kidney.
24321194 A novel CLDN16 mutation has been identified in a large consanguineous family with familial hypomagnesaemia with hypercalciuria and nephrocalcinosis.
22422540 Six different mutations of CLDN16 were detected (five missense and one nonsense); three of the missense mutations were previously unknown (p.Cys80Tyr, p.Lys183Glu, and p.Gly233Arg).
21848011 Claudin 16 gene revealed homozygosity for the p.K183E(AAA>GAA) C. 547A>G indicating the diagnosis of hypomagnesemia with hypercalciuria and nephrocalcinosis.
21717372 Claudin-16 plays a role beyond that of an initial metastasis repressor in breast cancer.
21669885 A novel mutation of CLDN16 gene is responsible for familial hypomagnesaemia in Turkish children.
21186073 Multiple distinct mutations in the CLDN16 and CLDN19 genes have been found responsible for familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
20664984 Elevated CLDN16 gene expression was suggested to be involved in the development of breast cancer and to be a biomarker and target treatment for breast cancer.
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AA Sequence

MTSRTPLLVTACLYYSYCNSRHLQQGVRKSKRPVFSHCQVPETQKTDTRHLSGARAGVCPCCHPDGLLAT      1 - 70
MRDLLQYIACFFAFFSAGFLIVATWTDCWMVNADDSLEVSTKCRGLWWECVTNAFDGIRTCDEYDSILAE     71 - 140
HPLKLVVTRALMITADILAGFGFLTLLLGLDCVKFLPDEPYIKVRICFVAGATLLIAGTPGIIGSVWYAV    141 - 210
DVYVERSTLVLHNIFLGIQYKFGWSCWLGMAGSLGCFLAGAVLTCCLYLFKDVGPERNYPYSLRKAYSAA    211 - 280
GVSMAKSYSAPRTETAKMYAVDTRV                                                 281 - 305
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Publication (39)

PMID Year Title
25557732 2015 The claudin-16 channel gene is transcriptionally inhibited by 1,25-dihydroxyvitamin D.
25477417 2015 Retrospective cohort study of familial hypomagnesaemia with hypercalciuria and nephrocalcinosis due to CLDN16 mutations.
24659781 2014 Tight junctional localization of claudin-16 is regulated by syntaxin 8 in renal tubular epithelial cells.
24321194 2013 A novel CLDN16 mutation in a large family with familial hypomagnesaemia with hypercalciuria and nephrocalcinosis.
22422540 2012 Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations.
22373575 2012 Claudin-14 regulates renal Ca?? transport in response to CaSR signalling via a novel microRNA pathway.
21848011 2011 A novel mutation of the claudin 16 gene in familial hypomagnesemia with hypercalciuria and nephrocalcinosis mimicking rickets.
21717372 2011 Claudin-16/paracellin-1, cloning, expression, and its role in tight junction functions in cancer and endothelial cells.
21669885 2012 Clinical and molecular characterization of Turkish patients with familial hypomagnesaemia: novel mutations in TRPM6 and CLDN16 genes.
21186073 2011 The role of tight junctions in paracellular ion transport in the renal tubule: lessons learned from a rare inherited tubular disorder.
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