CLDN16

Last update 08 May 2025

Basic Info

Synonyms

claudin 16, Claudin-16, CLDN16

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Introduction

Forms paracellular channels: coassembles with CLDN19 into tight junction strands with cation-selective channels through the strands, conveying epithelial permeability in a process known as paracellular tight junction permeability (PubMed:16234325, PubMed:18188451, PubMed:28028216). Involved in the maintenance of ion gradients along the nephron. In the thick ascending limb (TAL) of Henle's loop, facilitates sodium paracellular permeability from the interstitial compartment to the lumen, contributing to the lumen-positive transepithelial potential that drives paracellular magnesium and calcium reabsorption (PubMed:10390358, PubMed:11518780, PubMed:14628289, PubMed:16528408, PubMed:28028216).

100 Clinical Results associated with CLDN16

100 Translational Medicine associated with CLDN16

0 Patents (Medical) associated with CLDN16

234

Literatures (Medical) associated with CLDN16

01 Jun 2025·Pediatric Nephrology

Etiology, clinical characteristics, genetic profile, and outcomes of children with refractory rickets at a referral center in India: a cohort study

Article

Author: Krishnamurthy, Sriram ; Sravani, Madhileti ; Ramprabhu, Gopalan Suresh ; Krishnasamy, Sudarsan ; Deepthi, Bobbity ; Mathew, Varna ; Yadav, Prabhaker ; Mandal, Kausik ; Bhatt, Girish Chandra

BACKGROUNDLimited research exists regarding the genetic profile, clinical characteristics, and outcomes of refractory rickets in children from India.METHODSPatients with refractory rickets aged ≤ 18 years were enrolled. Data regarding clinical features, etiology, genotype-phenotype correlation, and estimated glomerular filtration rate (eGFR) were recorded.RESULTSSeventy-two patients with refractory rickets (non-nutritional, with normal kidney function at presentation) from 65 families attending the pediatric nephrology clinic from 2005-2024 were included. Median (IQR) age at first presentation was 2 (1, 4) years. Clinical features included failure-to-thrive (49 [68.1%]), polyuria (37 [51.4%]), nephrocalcinosis (33 [45.8%]), fractures (10 [13.9%]), and hypokalemic paralysis (4 [5.6%]). Major etiologies included distal renal tubular acidosis (dRTA) [34(47.2%)], hereditary hypophosphatemic rickets (11 [15.3%]), cystinosis (9 [12.5%]), Lowe syndrome (3 [4.2%]), vitamin D-dependent rickets (4 [5.5%]), and Fanconi-Bickel syndrome (3 [4.2%]). Next-generation sequencing identified 61 variants among 71 children tested (85.9%), of which 56 variants (among 55 children) were pathogenic (P)/likely-pathogenic (LP) (77.5% diagnostic-yield). P/LP variants included SLC4A1 (n = 14), CTNS (n = 9), PHEX (n = 8), WDR72 (n = 5), OCRL (n = 2), SLC2A2 (n = 3), ATP6V0A4 (n = 4), VDR (n = 3), CLDN16 (n = 2), ATP6V1B1 (n = 1), SLC12A1 (n = 1), CLCN5 (n = 1), SLC34A3 (n = 1), ATP7B (n = 1), and KCNJ1 (n = 1). Fifteen novel P/LP variants and five novel variants-of-uncertain-significance (VUS) were identified. c.2573C > A in exon 19 among SLC4A1-dRTA (n = 14) was a recurrent mutation. Five patients with cystinosis, two patients with SLC4A1-dRTA, two with WDR72-dRTA, and two with Bartter syndrome showed progression to CKD stage 2 or greater during follow-up.CONCLUSIONSdRTA, X-linked hypophosphatemic rickets, and cystinosis were common causes of refractory rickets. The c.2573C > A variant in exon 19 was a recurrent mutation in SLC4A1-dRTA.

01 Feb 2025·Acta Physiologica

Ion permeability profiles of renal paracellular channel‐forming claudins

Article

Author: Fromm, Anja ; Piontek, Jörg ; Rosenthal, Rita ; Furuse, Mikio ; Pouyiourou, Ioanna ; Günzel, Dorothee

AbstractAimMembers of the claudin protein family are the major constituents of tight junction strands and determine the permeability properties of the paracellular pathway. In the kidney, each nephron segment expresses a distinct subset of claudins that form either barriers against paracellular solute transport or charge‐ and size‐selective paracellular channels. It was the aim of the present study to determine and compare the permeation properties of these renal paracellular ion channel‐forming claudins.MethodsMDCK II cells, in which the five major claudins had been knocked out (claudin quintupleKO), were stably transfected with individual mouse Cldn2, ‐4, ‐8, ‐10a, ‐10b, or ‐15, or with dog Cldn16 or ‐19, or with a combination of mouse Cldn4 and Cldn8, or dog Cldn16 and Cldn19. Permeation properties were investigated in the Ussing chamber and claudin interactions by FRET assays.ResultsClaudin‐4 and ‐19 formed barriers against solute permeation. However, at low pH values and in the absence of HCO3−, claudin‐4 conveyed a weak chloride and nitrate permeability. Claudin‐8 needed claudin‐4 for assembly into TJ strands and abolished this anion preference. Claudin‐2, ‐10a, ‐10b, ‐15, ‐16+19 formed highly permeable channels with distinctive permeation profiles for different monovalent and divalent anions or cations, but barriers against the permeation of ions of opposite charge and of the paracellular tracer fluorescein.ConclusionParacellular ion permeabilities along the nephron are strictly determined by claudin expression patterns. Paracellular channel‐forming claudins are specific for certain ions and thus lower transepithelial resistance, yet form barriers against the transport of other solutes.

01 Feb 2025·European Journal of Endocrinology

A new broom sweeps clean: CLDN16 surpasses the BRAF-V600E mutation as an unrivaled biomarker in papillary thyroid cancer

Article

Author: Chen, Yao ; Ma, Wenli ; Li, Quan ; Ge, Minghua ; Zheng, Guowan ; Zhu, Lei ; Duan, Yanting ; Jiang, Liehao ; Cai, Xiujun ; Hu, Yiqun ; Guo, Yawen ; Song, Fahuan ; Cheng, Pu ; Shen, Shuyan ; Cai, Yefeng

AbstractObjectiveThis study assessed CLDN16 as a potential replacement or improvement biomarker for papillary thyroid cancer (PTC), addressing the limitations associated with the prevalently used BRAF-V600E mutation.DesignDatabase analyses, tissue validation, RNA sequencing, and functional assays were conducted to evaluate CLDN16 as a PTC biomarker and its clinical application.MethodsCLDN16 expression was examined in PTC and normal thyroid/para-tumor tissues and compared across various cancer types. We evaluated diagnostic accuracy, stability in primary and metastatic sites, and associations with aggressive features. Knockdown experiments were performed to investigate the impact on PTC cell behavior. Additionally, we developed a support vector machine model for diagnosing malignant and high-risk PTCs.ResultsCLDN16 demonstrated high specificity for PTC, with positive detection rates (88.0% in The Cancer Genome Atlas [TCGA] and 88.3% in our center) significantly surpassing BRAF-V600E (47.5% in TCGA and 74.3% in our center). This resulted in superior diagnostic accuracy (ROC-CLDN16 = 0.922 vs ROC-BRAF-V600E = 0.742 in TCGA). CLDN16 exhibited stable expression across primary and metastatic sites and was associated with aggressive features, including extrathyroidal extension and lymph node metastasis. CLDN16 knockdown inhibited migration, invasion, and iodine uptake in PTC cells. Clinically, CLDN16 effectively identified malignancy in BRAF wild patients (94.2%), and combined with BRAF-V600E, achieved 96.9% accuracy. The incorporation of CLDN16 into PTC molecular typing facilitated precise high-risk identification (92.0% accuracy in the training set and 100% in the validation set).ConclusionsCLDN16 presents a promising biomarker that could surpass BRAF-V600E, offering effective clinical utility and revolutionizing PTC molecular typing for precise high-risk identification.

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CLDN16

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