DSG3
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 5EQX
Identifiers
Aliases	DSG3, CDHF6, PVA, desmoglein 3, ABOLM
External IDs	OMIM: 169615 MGI: 99499 HomoloGene: 55513 GeneCards: DSG3
Gene location (Human) Chr. Chromosome 18 (human)[1] Band 18q12.1 Start 31,447,741 bp[1] End 31,478,702 bp[1]
Gene location (Mouse) Chr. Chromosome 18 (mouse)[2] Band 18 A2|18 11.39 cM Start 20,643,331 bp[2] End 20,680,516 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gums cavity of mouth body of tongue human penis vulva cervix epithelium skin of abdomen superior surface of tongue vagina hair follicle Top expressed in esophagus conjunctival fornix cornea lip skin of back skin of abdomen hair follicle hand belly cord molar More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium ion binding metal ion binding Cellular component integral component of membrane cytosol cell junction desmosome extracellular exosome membrane plasma membrane cornified envelope cell-cell junction Biological process cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules keratinization cornification cell-cell adhesion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1830 13512 Ensembl ENSG00000134757 ENSMUSG00000056632 UniProt P32926 O35902 RefSeq (mRNA) NM_001944 NM_030596 RefSeq (protein) NP_001935 NP_085099 Location (UCSC) Chr 18: 31.45 – 31.48 Mb Chr 18: 20.64 – 20.68 Mb PubMed search [3] [4]
Wikidata
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Desmoglein-3 is a protein that in humans is encoded by the DSG3 gene.^[5][6] In the skin epidermis Desmoglein-3 is expressed in the basal lower layers of the epidermis, and dominates in terms of expression on mucosal surfaces compared to Desmoglein-1.^[7]

Function

Desmosomes are cell-cell junctions between epithelial, myocardial, and certain other cell types. Desmoglein 3 is a calcium-binding transmembrane glycoprotein component of desmosomes in vertebrate epithelial cells. Currently, four desmoglein subfamily members have been identified and all are members of the cadherin cell adhesion molecule superfamily. These desmoglein gene family members are located in a cluster on chromosome 18. This protein, along with Desmoglein-1, has been identified as the autoantigen of the autoimmune skin blistering disease pemphigus vulgaris.^[8] The mucosal dominant form of pemphigus vulgaris only involves antibodies against Desmoglein-3 and causes mucosal erosions, but no skin lesions.^[7] Desmoglein-3 serves as a prognostic marker of Esophageal Squamous Cell Carcinoma (ESCC), and may even be involved in the progression of ESCC.^[9]

Pathogenicity

Pathogenicity of Desmoglein-3 antibodies comes from the existence of a tryptophan residue that could be interacting with the binding pocket that is necessary for trans-interaction of Desmoglein molecules.^[10] Such antibodies can lead to the cause of skin disorders like pemphigus vulgaris.

Interactions

Desmoglein 3 has been shown to interact with PKP3.^[11]