DSG3
Chr 18ARdesmoglein 3
Also known as: ABOLM, CDHF6, PVA
Desmoglein 3 is a calcium-binding transmembrane glycoprotein that forms desmosome cell-cell junctions essential for epithelial cell adhesion, particularly in oral and laryngeal mucosa. Mutations cause autosomal recessive blistering and acantholytic lesions of the oral and laryngeal mucosa, presenting as a localized form of pemphigus affecting mucosal surfaces. The gene shows very low constraint against loss-of-function variants (LOEUF 1.09), consistent with the recessive inheritance pattern where both copies must be affected to cause disease.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
249 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 38 | 0 | 38 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 1 | 143 | 7 | 0 | 151 |
Likely Benign | 0 | 10 | 2 | 1 | 13 |
Benign | 0 | 5 | 32 | 5 | 42 |
| Total | 1 | 158 | 80 | 6 | 245 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DSG3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools