DSG4
Chr 18ARdesmoglein 4
Also known as: CDGF13, CDHF13, HYPT6, LAH
DSG4 encodes desmoglein-4, a transmembrane component of desmosomes that mediates cell-cell adhesion in epithelial cells and coordinates the transition from proliferation to differentiation in hair follicle keratinocytes. Mutations cause autosomal recessive hypotrichosis characterized by impaired hair growth. The gene shows low constraint to loss-of-function variation (pLI near zero), consistent with its recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
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
388 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 | 9 | 3 | 39 | 0 | 51 |
Likely Pathogenic | 6 | 1 | 1 | 0 | 8 |
VUS | 1 | 176 | 21 | 8 | 206 |
Likely Benign | 0 | 17 | 9 | 29 | 55 |
Benign | 0 | 4 | 21 | 8 | 33 |
Conflicting | — | 33 | |||
| Total | 16 | 201 | 91 | 45 | 386 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DSG4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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