ID:DSG2_HUMAN DESCRIPTION: RecName: Full=Desmoglein-2; AltName: Full=Cadherin family member 5; AltName: Full=HDGC; Flags: Precursor; FUNCTION: Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Cell junction, desmosome. TISSUE SPECIFICITY: All of the tissues tested and carcinomas. DOMAIN: Calcium may be bound by the cadherin-like repeats (Potential). DISEASE: Defects in DSG2 are the cause of familial arrhythmogenic right ventricular dysplasia type 10 (ARVD10) [MIM:610193]; also known as arrhythmogenic right ventricular cardiomyopathy 10 (ARVC10). ARVD is an autosomal dominant disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability, and sudden death. It is clinically defined by electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall. DISEASE: Genetic variations in DSG2 are the cause of susceptibility to cardiomyopathy dilated type 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. SIMILARITY: Contains 4 cadherin domains. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DSG2";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q14126
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005509 calcium ion binding GO:0046872 metal ion binding GO:0050839 cell adhesion molecule binding GO:0086083 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication
Biological Process: GO:0002934 desmosome organization GO:0003165 Purkinje myocyte development GO:0007155 cell adhesion GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules GO:0031424 keratinization GO:0032570 response to progesterone GO:0060135 maternal process involved in female pregnancy GO:0070268 cornification GO:0086073 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086091 regulation of heart rate by cardiac conduction GO:0098911 regulation of ventricular cardiac muscle cell action potential
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
