CLDN16

Chr 3q28

claudin 16

Aliases:: PCLN1, HOMG3
MANE:: ENST00000264734.3

OMIM: 603959 ↗NCBI: 10686 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

CLDN16 · Q9Y5I7

v62025-08-01

Predicted Aligned Error matrix for CLDN16 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

77.0/ 100

Confident

235 residues

Confidence breakdown

Very high(≥ 90)38%
Confident(70–90)35%
Low(50–70)9%
Very low(< 50)18%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Nephrocalcinosis or nephrolithiasis
BIALLELIC, autosomal or pseudoautosomal
Renal tubulopathies
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
Ductal plate malformation
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

renal hypomagnesemia 3
0.84
Autosomal dominant primary hypomagnesemia with hypocalciuria
0.63
thrombocytopenia 5
0.34
nephrocalcinosis
0.27
renal hypomagnesemia 5 with ocular involvement
0.27
nephrolithiasis
0.26
familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
0.19
hereditary disease
0.19
amelogenesis imperfecta
0.19
familial idiopathic steroid-resistant nephrotic syndrome
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Claudin-16

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)