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MGP Database

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MGP000878

UniProt Annotations

Entry Information

Gene Name	desmoglein 2
Protein Entry	DSG2_HUMAN
UniProt ID	Q14126
Species	Human

Comments

Comment type	Description
Disease	Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10) [MIM:610193]: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. {ECO:0000269\|PubMed:16773573, ECO:0000269\|PubMed:19863551, ECO:0000269\|PubMed:20031617, ECO:0000269\|PubMed:21062920}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Cardiomyopathy, dilated 1BB (CMD1BB) [MIM:612877]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269\|PubMed:18678517}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Domain	Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain. {ECO:0000250}.
Function	Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.
Similarity	Contains 4 cadherin domains. {ECO:0000255\|PROSITE- ProRule:PRU00043}.
Subcellular Location	Cell membrane; Single-pass type I membrane protein. Cell junction, desmosome.
Tissue Specificity	All of the tissues tested and carcinomas.
Web Resource	Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/DSG2ID40367ch18q12.html";