DSC3

Chr 18q12.1

desmocollin 3

Aliases:: CDHF3, DSC, DSC1, DSC2
MANE:: ENST00000360428.9

OMIM: 600271 ↗NCBI: 1825 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

DSC3 · Q14574

v62025-08-01

Predicted Aligned Error matrix for DSC3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

75.2/ 100

Confident

896 residues

Confidence breakdown

Very high(≥ 90)41%
Confident(70–90)29%
Low(50–70)7%
Very low(< 50)24%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Palmoplantar keratodermas
BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa and congenital skin fragility
BIALLELIC, autosomal or pseudoautosomal
Ectodermal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Non-syndromic hypotrichosis
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

hereditary hypotrichosis with recurrent skin vesicles
0.66
wooly hair-palmoplantar keratoderma syndrome
0.37
systemic inflammatory response syndrome
0.22
stomach disorder
0.22
dyspepsia
0.22
spermatocele
0.20
Precordial pain
0.20
sleep apnea syndrome
0.19
stricture or kinking of ureter
0.17
respiratory tract infectious disorder
0.16

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

Protein function (UniProt)

Desmocollin-2

A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (PubMed:33596089). Promotes timely incorporation of DSG2 into desmosome intercellular junctions and promotes interaction of desmosome cell junctions with intermediate filament cytokeratin, via modulation of DSP phosphorylation (PubMed:33596089). Plays an important role in desmosome-mediated maintenance of intestinal epithelial cell intercellular adhesion strength and barrier function (PubMed:33596089). Positively regulates wound healing of intestinal mucosa via promotion of epithelial cell migration, and also plays a role in mechanotransduction of force between intestinal epithelial cells and extracellular matrix (PubMed:31967937). May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms. May promote p38MAPK signaling activation that facilitates keratinocyte migration (By similarity)