Property Summary

NCBI Gene PubMed Count 39
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 2.1e-05
psoriasis -1.500 4.5e-49

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.
20511716 Mg(2+) depletion markedly increased and Mg(2+) load decreased endogenous claudin-16 mRNA levels in calcium-sensing receptor-transfected HEK293 cells compared with native HEK293 cells.
19695239 Observational study of gene-disease association. (HuGE Navigator)
19165416 Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: unusual clinical associations and novel claudin16 mutation in an Egyptian family.
19082451 The expression of claudins-2, -3 and -4 in 16 rectal well-differentiated endocrine neoplasms was studied
18816383 Mutation analysis reveals compound heterozygous mutations in the claudin 16 gene (CLDN16) in two siblings affecting the second extracellular loop of claudin 16 and leading to complete loss of the protein.
18442037 Claudin-16 plays a role beyond that of an initial metastasis repressor in this cancer type
18003771 Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive tubular disorder caused by CLDN16 mutations
17551748 paracellin-1 might act as selectivity filter for the paracellular movement of ions and water during stimulated secretion
16924549 We present a patient with a homozygous truncating CLDN16 gene mutation (W237X) who had early onset of renal insufficiency despite early diagnosis at 2 months.
16528408 We conclude that FHHNC can result from mutations in Cldn16 that affect intracellular trafficking or paracellular Mg2+ permeability
16234325 Paracellin-1 modulates paracellular conductance and not transcellular transport; it does not form magnesium ion-selective paracellular channels
14628289 Mutations in claudin 16 that affect interaction with ZO-1 lead to lysosomal mistargeting

AA Sequence

MTSRTPLLVTACLYYSYCNSRHLQQGVRKSKRPVFSHCQVPETQKTDTRHLSGARAGVCPCCHPDGLLAT      1 - 70
MRDLLQYIACFFAFFSAGFLIVATWTDCWMVNADDSLEVSTKCRGLWWECVTNAFDGIRTCDEYDSILAE     71 - 140
HPLKLVVTRALMITADILAGFGFLTLLLGLDCVKFLPDEPYIKVRICFVAGATLLIAGTPGIIGSVWYAV    141 - 210
DVYVERSTLVLHNIFLGIQYKFGWSCWLGMAGSLGCFLAGAVLTCCLYLFKDVGPERNYPYSLRKAYSAA    211 - 280
GVSMAKSYSAPRTETAKMYAVDTRV                                                 281 - 305
//

Text Mined References (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.
20664984 2010 Significant elevation of CLDN16 and HAPLN3 gene expression in human breast cancer.
20511716 2010 Transcriptional regulation of the claudin-16 gene by Mg2+ availability.
19706201 2009 The claudins.
19695239 2009 Genetic determinants of extracellular magnesium concentration: analysis of multiple candidate genes, and evidence for association with the estrogen receptor alpha (ESR1) locus.
19165416 2009 Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: unusual clinical associations and novel claudin16 mutation in an Egyptian family.
19082451 2009 Claudin expression in rectal well-differentiated endocrine neoplasms (carcinoid tumors).
18816383 2008 Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC): compound heterozygous mutation in the claudin 16 (CLDN16) gene.
18442037 2008 Claudin-16 reduces the aggressive behavior of human breast cancer cells.
18036336 2008 Structure and function of claudins.
18003771 2008 CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
17551748 2007 Identification and subcellular localization of paracellin-1 (claudin-16) in human salivary glands.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16924549 2006 Paracellin-1 gene mutation with multiple congenital abnormalities.
16528408 2006 Disease-associated mutations affect intracellular traffic and paracellular Mg2+ transport function of Claudin-16.
16234325 2005 Paracellin-1 and the modulation of ion selectivity of tight junctions.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14628289 2003 A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting.
12736707 2003 CLDN23 gene, frequently down-regulated in intestinal-type gastric cancer, is a novel member of CLAUDIN gene family.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12475568 2003 Tight junction proteins.
12231346 2002 Claudin-based barrier in simple and stratified cellular sheets.
11518780 2001 Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
11283726 2001 Multifunctional strands in tight junctions.
11247307 2001 The roles of claudin superfamily proteins in paracellular transport.
10878661 2000 Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene.
10690502 2000 Tight junctions of the blood-brain barrier.
10390358 1999 Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
668721 1978 Renal magnesium wasting, incomplete tubular acidosis, hypercalciuria and nephrocalcinosis in siblings.