Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. This gene encodes a component of tight junction strands, which is a member of the claudin family. The protein is an integral membrane protein and is one of the entry cofactors for hepatitis C virus. The gene methylation may be involved in esophageal tumorigenesis. This gene is adjacent to another family member CLDN9 on chromosome 16.[provided by RefSeq, Aug 2010]

OMIMResearchGenerating clinical summary…
1
Active trials
50
Pubs (1 yr)
P/LP submissions
P/LP missense
1.58
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.58LOEUF
pLI 0.004
Z-score 0.60
OE 0.72 (0.351.58)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.43Z-score
OE missense 1.10 (0.961.26)
148 obs / 134.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.72 (0.351.58)
00.351.4
Missense OE?1.10 (0.961.26)
00.61.4
Synonymous OE?1.35
01.21.6
LoF obs/exp: 4 / 5.5Missense obs/exp: 148 / 134.0Syn Z: -2.18

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CLDN6 · protein map & ClinVar variants

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