DSG4

Chr 18q12.1

desmoglein 4

Aliases:: CDHF13, LAH
MANE:: ENST00000308128.9

OMIM: 607892 ↗NCBI: 147409 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

DSG4 · Q86SJ6

v62025-08-01

Predicted Aligned Error matrix for DSG4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

65.0/ 100

Low

1,040 residues

Confidence breakdown

Very high(≥ 90)32%
Confident(70–90)20%
Low(50–70)10%
Very low(< 50)38%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ectodermal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Non-syndromic hypotrichosis
BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratodermas
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

hypotrichosis 6
0.73
hypotrichosis simplex
0.72
hypotrichosis 7
0.48
monilethrix
0.39
ectodermal dysplasia syndrome
0.34
hereditary disease
0.19
uncombable hair syndrome
0.10
syringocystadenoma papilliferum
0.10
oculocutaneous albinism type 6
0.10
atrichia with papular lesions
0.10

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

Protein function (UniProt)

Desmoglein-4

A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (By similarity). Coordinates the transition from proliferation to differentiation in hair follicle keratinocytes (By similarity). Plays a role in moderating lymphocyte migration to inflamed skin and maintaining homeostasis of the epidermal inflammatory response (By similarity)