CLDN16

Chr 3

claudin 16

ENSG00000113946UniProt: Q9Y5I7

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)

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtHypomagnesemia 3

Clinical highlights

Gene-disease validity (ClinGen)
renal hypomagnesemia 3 · ARDefinitivesufficient evidence for diagnostic panels
0
Active trials
19
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.76
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (2)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.76LOEUF
pLI 0.025
Z-score 2.21
OE 0.36 (0.19–0.76)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.08Z-score
OE missense 1.02 (0.90–1.15)
173 obs / 170.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.36 (0.19–0.76)
0≤0.351.4
Missense OE?1.02 (0.90–1.15)
0≤0.61.4
Synonymous OE?1.20
0≤1.21.6
LoF obs/exp: 5 / 13.9Missense obs/exp: 173 / 170.2Syn Z: -1.25

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

CLDN16 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients