Property Summary

NCBI Gene PubMed Count 32
Grant Count 3
R01 Count 1
Funding $459,750.05
PubMed Score 34.71
PubTator Score 31.88

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession O95500
Symbols DFNB29

Gene

PANTHER Protein Class (2)

Gene RIF (15)

PMID Text
26107257 Rs1801725 (Ala986-Ser), rs1042636 (Arg990Gly) of CaSR gene and rs219778, rs219780 (Thr229Thr) of CLDN14 gene were significantly associated with kidney stone disease in patients from the Eastern part of India.
24325792 Claudin 14 expression was up-regulated in gastric cancer.
23991001 Data suggest a possible role for Claudin14 in urinary calcium excretion.
23590985 CLDN14 mutations can contribute to the aetiology of childhood/congenital deafness in Moroccan patients.
23322640 Human Cldn-8 and -14 were shown to convey Clostridium perfringens enterotoxin-mediated cytotoxicity at pathophysiologically relevant concentrations of this toxin, although ~2-to-10-fold less efficiently than Cldn-4.
23235333 OPRM1 genetic polymorphisms are associated with the plasma concentration of cotinine in a Taiwanese MMT cohort. Carriers with the major allele of SNP rs1799971 had a higher plasma cotinine concentration.
22246673 The hearing loss due to novel CLDN14 mutations is prelingual, severe-to-profound with greater loss in the high frequencies.
20811388 Individuals with mutations of CLDN14 may have different degrees of hearing loss and the loss is greater at higher frequencies.
20494980 The CLDN14 promoter is activated by Trichostatin A (TSA) treatment according to promoter reporter assays in HEK 293 cells.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
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AA Sequence

MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSL      1 - 70
LALPQDLQAARALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTT     71 - 140
NDVVQNFYNPLLPSGMKFEIGQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPA    141 - 210
YQPPAAYKDNRAPSVTSATHSGYRLNDYV                                             211 - 239
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Text Mined References (31)

PMID Year Title
26107257 2015 Polymorphisms in CaSR and CLDN14 Genes Associated with Increased Risk of Kidney Stone Disease in Patients from the Eastern Part of India.
24325792 2013 The distinct expression patterns of claudin-10, -14, -17 and E-cadherin between adjacent non-neoplastic tissues and gastric cancer tissues.
24249740 2014 Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.
23991001 2013 Frequency of rare allelic variation in candidate genes among individuals with low and high urinary calcium excretion.
23590985 2013 Analysis of CLDN14 gene in deaf Moroccan patients with non-syndromic hearing loss.
23322640 2013 Human claudin-8 and -14 are receptors capable of conveying the cytotoxic effects of Clostridium perfringens enterotoxin.
23235333 2013 Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population.
23166209 2012 Impact of ancestry and common genetic variants on QT interval in African Americans.
22246673 2012 Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.
20811388 2010 Mutations in CLDN14 are associated with different hearing thresholds.
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