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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; OMA:DSG3 - orthologs
Gene location (Human) Chr. Chromosome 18 (human) Band 18q12.1 Start 31,447,741 bp End 31,478,702 bp
Gene location (Mouse) Chr. Chromosome 18 (mouse) Band 18 A2|18 11.39 cM Start 20,643,331 bp End 20,680,516 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gums gingival epithelium mucosa of pharynx oral cavity body of tongue human penis vulva cervix epithelium skin of thigh skin of abdomen Top expressed in esophagus skin of external ear conjunctival fornix cornea lip skin of back skin of abdomen hair follicle lumbar spinal ganglion hand 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
Wikidata
View/Edit Human View/Edit Mouse

Desmoglein-3 is a protein that in humans is encoded by the DSG3 gene. 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.

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. The mucosal dominant form of pemphigus vulgaris only involves antibodies against Desmoglein-3 and causes mucosal erosions, but no skin lesions. Desmoglein-3 serves as a prognostic marker of Esophageal Squamous Cell Carcinoma (ESCC), and may even be involved in the progression of ESCC.

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. Such antibodies can lead to the cause of skin disorders like pemphigus vulgaris.

Interactions

Desmoglein 3 has been shown to interact with PKP3.

See also

• Desmoglein
• List of target antigens in pemphigus
• List of conditions caused by problems with junctional proteins

References

1. ^ GRCh38: Ensembl release 89: ENSG00000134757 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000056632 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Arnemann J, Spurr NK, Buxton RS (May 1992). "The human gene (DSG3) coding for the pemphigus vulgaris antigen is, like the genes coding for the other two known desmogleins, assigned to chromosome 18". Human Genetics. 89 (3): 347–50. doi:10.1007/bf00220557. PMID 1601426. S2CID 30558450.
6. "Entrez Gene: DSG3 desmoglein 3 (pemphigus vulgaris antigen)".
7. ^ Beigi PK (2018). A Clinician's Guide to Pemphigus Vulgaris. Springer, Cham. pp. 3–10. doi:10.1007/978-3-319-67759-0_1. ISBN 9783319677583.
8. Hartlieb E, Kempf B, Partilla M, Vigh B, Spindler V, Waschke J (2013-01-11). "Desmoglein 2 is less important than desmoglein 3 for keratinocyte cohesion". PLOS ONE. 8 (1): e53739. Bibcode:2013PLoSO...853739H. doi:10.1371/journal.pone.0053739. PMC 3543261. PMID 23326495.
9. Fang WK, Gu W, Liao LD, Chen B, Wu ZY, Wu JY, Shen J, Xu LY, Li EM (2014). "Prognostic significance of desmoglein 2 and desmoglein 3 in esophageal squamous cell carcinoma". Asian Pacific Journal of Cancer Prevention. 15 (2): 871–6. doi:10.7314/apjcp.2014.15.2.871. PMID 24568510.
10. Spindler V, Rötzer V, Dehner C, Kempf B, Gliem M, Radeva M, Hartlieb E, Harms GS, Schmidt E, Waschke J (February 2013). "Peptide-mediated desmoglein 3 crosslinking prevents pemphigus vulgaris autoantibody-induced skin blistering". The Journal of Clinical Investigation. 123 (2): 800–11. doi:10.1172/jci60139. PMC 3561799. PMID 23298835.
11. Bonné S, Gilbert B, Hatzfeld M, Chen X, Green KJ, van Roy F (April 2003). "Defining desmosomal plakophilin-3 interactions". The Journal of Cell Biology. 161 (2): 403–16. doi:10.1083/jcb.200303036. hdl:1854/LU-210987. PMC 2172904. PMID 12707304.

Further reading

• Amagai M, Klaus-Kovtun V, Stanley JR (November 1991). "Autoantibodies against a novel epithelial cadherin in pemphigus vulgaris, a disease of cell adhesion". Cell. 67 (5): 869–77. doi:10.1016/0092-8674(91)90360-B. PMID 1720352. S2CID 21647774.
• Roh JY, Stanley JR (May 1995). "Plakoglobin binding by human Dsg3 (pemphigus vulgaris antigen) in keratinocytes requires the cadherin-like intracytoplasmic segment". The Journal of Investigative Dermatology. 104 (5): 720–4. doi:10.1111/1523-1747.ep12606963. PMID 7738346.
• Wang Y, Amagai M, Minoshima S, Sakai K, Green KJ, Nishikawa T, Shimizu N (April 1994). "The human genes for desmogleins (DSG1 and DSG3) are located in a small region on chromosome 18q12". Genomics. 20 (3): 492–5. doi:10.1006/geno.1994.1207. PMID 8034325.
• Schäfer S, Koch PJ, Franke WW (April 1994). "Identification of the ubiquitous human desmoglein, Dsg2, and the expression catalogue of the desmoglein subfamily of desmosomal cadherins". Experimental Cell Research. 211 (2): 391–9. doi:10.1006/excr.1994.1103. PMID 8143788.
• Kárpáti S, Amagai M, Prussick R, Cehrs K, Stanley JR (July 1993). "Pemphigus vulgaris antigen, a desmoglein type of cadherin, is localized within keratinocyte desmosomes". The Journal of Cell Biology. 122 (2): 409–15. doi:10.1083/jcb.122.2.409. PMC 2119642. PMID 8320263.
• Silos SA, Tamai K, Li K, Kivirikko S, Kouba D, Christiano AM, Uitto J (July 1996). "Cloning of the gene for human pemphigus vulgaris antigen (desmoglein 3), a desmosomal cadherin. Characterization of the promoter region and identification of a keratinocyte-specific cis-element". The Journal of Biological Chemistry. 271 (29): 17504–11. doi:10.1074/jbc.271.29.17504. PMID 8663392.
• Marsden MD, Collins JE, Greenwood MD, Adams MJ, Fleming TP, Magee AI, Buxton RS (February 1997). "Cloning and transcriptional analysis of the promoter of the human type 2 desmocollin gene (DSC2)". Gene. 186 (2): 237–47. doi:10.1016/S0378-1119(96)00715-9. PMID 9074502.
• Adams MJ, Reichel MB, King IA, Marsden MD, Greenwood MD, Thirlwell H, Arnemann J, Buxton RS, Ali RR (January 1998). "Characterization of the regulatory regions in the human desmoglein genes encoding the pemphigus foliaceous and pemphigus vulgaris antigens". The Biochemical Journal. 329. 329 ( Pt 1) (Pt 1): 165–74. doi:10.1042/bj3290165. PMC 1219028. PMID 9405290.
• Shirakata Y, Amagai M, Hanakawa Y, Nishikawa T, Hashimoto K (January 1998). "Lack of mucosal involvement in pemphigus foliaceus may be due to low expression of desmoglein 1". The Journal of Investigative Dermatology. 110 (1): 76–8. doi:10.1046/j.1523-1747.1998.00085.x. PMID 9424092.
• Amagai M, Nishikawa T, Nousari HC, Anhalt GJ, Hashimoto T (August 1998). "Antibodies against desmoglein 3 (pemphigus vulgaris antigen) are present in sera from patients with paraneoplastic pemphigus and cause acantholysis in vivo in neonatal mice". The Journal of Clinical Investigation. 102 (4): 775–82. doi:10.1172/JCI3647. PMC 508940. PMID 9710446.
• Ishikawa H, Li K, Tamai K, Sawamura D, Uitto J (August 2000). "Cloning of the mouse desmoglein 3 gene (Dsg3): interspecies conservation within the cadherin superfamily". Experimental Dermatology. 9 (4): 229–39. doi:10.1034/j.1600-0625.2000.009004229.x. PMID 10949543. S2CID 30935336.
• Czerwenka KF, Manavi M, Hosmann J, Jelincic D, Pischinger KI, Battistutti WB, Behnam M, Kubista E (2001). "Comparative analysis of two-dimensional protein patterns in malignant and normal human breast tissue". Cancer Detection and Prevention. 25 (3): 268–79. PMID 11425269.
• Weiske J, Schöneberg T, Schröder W, Hatzfeld M, Tauber R, Huber O (November 2001). "The fate of desmosomal proteins in apoptotic cells". The Journal of Biological Chemistry. 276 (44): 41175–81. doi:10.1074/jbc.M105769200. PMID 11500511.
• Andl CD, Stanley JR (November 2001). "Central role of the plakoglobin-binding domain for desmoglein 3 incorporation into desmosomes". The Journal of Investigative Dermatology. 117 (5): 1068–74. doi:10.1046/j.0022-202x.2001.01528.x. PMID 11710914.
• Merritt AJ, Berika MY, Zhai W, Kirk SE, Ji B, Hardman MJ, Garrod DR (August 2002). "Suprabasal desmoglein 3 expression in the epidermis of transgenic mice results in hyperproliferation and abnormal differentiation". Molecular and Cellular Biology. 22 (16): 5846–58. doi:10.1128/MCB.22.16.5846-5858.2002. PMC 133994. PMID 12138195.
• Hanakawa Y, Amagai M, Shirakata Y, Yahata Y, Tokumaru S, Yamasaki K, Tohyama M, Sayama K, Hashimoto K (December 2002). "Differential effects of desmoglein 1 and desmoglein 3 on desmosome formation". The Journal of Investigative Dermatology. 119 (6): 1231–6. doi:10.1046/j.1523-1747.2002.19648.x. PMID 12485422.
• Veldman C, Stauber A, Wassmuth R, Uter W, Schuler G, Hertl M (January 2003). "Dichotomy of autoreactive Th1 and Th2 cell responses to desmoglein 3 in patients with pemphigus vulgaris (PV) and healthy carriers of PV-associated HLA class II alleles". Journal of Immunology. 170 (1): 635–42. doi:10.4049/jimmunol.170.1.635. PMID 12496453.
• Posthaus H, Dubois CM, Müller E (February 2003). "Novel insights into cadherin processing by subtilisin-like convertases". FEBS Letters. 536 (1–3): 203–8. doi:10.1016/S0014-5793(02)03897-8. PMID 12586364. S2CID 26668652.

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