CLDN19

Chr 1p34.2

claudin 19

MANE:: ENST00000296387.6

OMIM: 610036 ↗NCBI: 149461 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

CLDN19 · Q8N6F1

v62025-08-01

Predicted Aligned Error matrix for CLDN19 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

80.9/ 100

Confident

224 residues

Confidence breakdown

Very high(≥ 90)46%
Confident(70–90)30%
Low(50–70)12%
Very low(< 50)13%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Nephrocalcinosis or nephrolithiasis
BIALLELIC, autosomal or pseudoautosomal
Ocular coloboma
BIALLELIC, autosomal or pseudoautosomal
Renal tubulopathies
BIALLELIC, autosomal or pseudoautosomal
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

renal hypomagnesemia 5 with ocular involvement
0.81
nephrocalcinosis
0.26
nephrolithiasis
0.26
hereditary disease
0.19
mixed connective tissue disease
0.09
Brugada syndrome
0.07
genetic developmental and epileptic encephalopathy
0.07
undetermined early-onset epileptic encephalopathy
0.06
spinocerebellar ataxia type 4
0.06
Romano-Ward syndrome
0.06

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

Protein function (UniProt)

Claudin-19

Forms paracellular channels: coassembles with CLDN16 into tight junction strands with cation-selective channels through the strands, conveying epithelial permeability in a process known as paracellular tight junction permeability (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 (By similarity) (PubMed:17033971, PubMed:25555744). Forms paracellular barriers on its own. In the peripheral nervous system, represents a major constituent of the tight junctions in Schwann cells and contributes to electrical sealing. During retinal neurogenesis, may regulate the barrier properties of tight junctions in retinal pigment epithelium, required for proper retinal tissue differentiation and vision (By similarity) (PubMed:17033971, PubMed:30937396)