Property Summary

NCBI Gene PubMed Count 21
Grant Count 6
R01 Count 6
Funding $448,160.13
PubMed Score 22.23
PubTator Score 20.95

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
osteosarcoma 3.062 0.000
atypical teratoid / rhabdoid tumor 1.600 0.000
medulloblastoma, large-cell 1.700 0.000
inflammatory breast cancer -1.400 0.000
psoriasis -1.400 0.000

Gene RIF (9)

PMID Text
25712527 Claudin-19, the most abundant claudin in myelin, exhibited no binding to ZO2 protein.
25555744 analysis of a novel mutation c.241C>T in exon 2 of CLDN19 in a Chinese patient
25410674 CLDN19 genetic mutation is responsible for familial magnesium deficiency with hypercalciuria and nephrocalcinosis.
23538362 Case Reports: novel CLDN19 mutation in familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
23301036 patients with CLDN19 mutations have a high risk of progression to chronic renal disease
22734304 In a patient with consanguineous parents, history of disturbed organization and development of the retina, a diagnosis of Familial hypomagnesemia with hypercalciuria and nephrocalcinosis caused by claudin-19 mutation should be considered.
22422540 The risk of end-stage renal disease in patients with CLDN19 mutations was two times the risk of patients with CLDN16 mutations. Ocular abnormalities were observed only in patients with CLDN19 mutations.
21030577 Ocular manifestations and exercise intolerance mimicking mild to moderate periodic paralysis are two symptoms that may occur in patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis and may indicate CLDN19 mutations.
17033971 The identification of CLDN19 mutations in patients with chronic renal failure and severe visual impairment supports the fundamental role of claudin-19 for normal renal tubular function and undisturbed organization and development of the retina.

AA Sequence

MANSGLQLLGYFLALGGWVGIIASTALPQWKQSSYAGDAIITAVGLYEGLWMSCASQSTGQVQCKLYDSL      1 - 70
LALDGHIQSARALMVVAVLLGFVAMVLSVVGMKCTRVGDSNPIAKGRVAIAGGALFILAGLCTLTAVSWY     71 - 140
ATLVTQEFFNPSTPVNARYEFGPALFVGWASAGLAVLGGSFLCCTCPEPERPNSSPQPYRPGPSAAAREP    141 - 210
VVKLPASAKGPLGV                                                            211 - 224
//

Text Mined References (22)

PMID Year Title
25712527 2015 Biophysical characterization of interactions between the C-termini of peripheral nerve claudins and the PDZ? domain of zonula occludens.
25555744 2015 First report of a novel missense CLDN19 mutations causing familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a Chinese family.
25410674 2015 Haplotype analysis of CLDN19 single nucleotide polymorphisms in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
23538362 2013 Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC): report of three cases with a novel mutation in CLDN19 gene.
23301036 2013 Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
22734304 Hypomagnesemia-hypercalciuria-nephrocalcinosis and ocular findings: a new claudin-19 mutation.
22422540 2012 Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations.
21030577 2011 Renal, ocular, and neuromuscular involvements in patients with CLDN19 mutations.
19706201 2009 The claudins.
18036336 2008 Structure and function of claudins.
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