Desmoglein-2 (Dsg2) is a specific cadherin of the cell-cell contact in cardiac desmosomes. Abstract. Gene symbol: Chromosomal location: Gene name: Mutation total: Log in: DSG2: 18q12.1: Desmoglein 2: 99 These results show that DSG2-F531C mutation can destroy the structure of desmosome. DSG2 A gene on chromosome 18q12.1 that encodes desmoglein 2, a calcium-binding transmembrane glycoprotein component of desmosomes expressed in the colon, in colorectal carcinoma, and in other simple and stratified epithelial-derived cell lines. 1 Interestingly, biallelic or digenic DSC2 and/or DSG2 mutations are frequently identified in TFC+ ARVD/C patients, suggesting that a single mutation is less likely to cause a full-blown ARVD/C phenotype. View mouse Dsg2 Chr18:20558074-20604521 with: phenotypes, sequences, polymorphisms, proteins, references, function, expression Conclusions-Mutations in DSG2 and DSC2 are together less prevalent (10%) than PKP2 mutations (40%) in Dutch TFC+ ARVD/C patients. No association between mutations in this gene and human disease has been reported elsewhere. DSG2 mutations were predominant over those of PKP2 or other desmosomal genes. (provided by RefSeq, Jul 2008) GeneCards Summary for DSG2 Gene: DSG2 (desmoglein 2) is a protein-coding gene. These mutations, that account for ∼40% of DSG2 mutations, 2 are predicted to abolish DSG2 propeptide cleavage. All probands fulfilled task force criteria for ARVC. Am J Hum Genet 79:136-142, 2006). Nine heterozygous DSG2 mutations (5 missense, 2 insertion-deletions, 1 nonsense, and 1 splice site mutation) were detected in 8 probands (10%). The role of rare variants in DSG2 as causative mutations in Dilated Cardiomyopathy is described below. Interestingly, biallelic or digenic DSC2 and/or DSG2 mutations are frequently identified in TFC+ ARVD/C patients, suggesting that a single mutation is less likely to cause a full-blo … Nine heterozygous DSG2 mutations (5 missense, 2 insertion-deletions, 1 nonsense, and 1 splice site mutation) were detected in 8 probands (10%). DSG1 (Desmoglein 1) is a Protein Coding gene. It is inherited as an autosomal dominant disease with reduced penetrance, although autosomal recessive forms of the disease also occur. Mutations in the DSG2 gene are associated with rare but severe heart muscle diseases such as arrhythmogenic right ventricular cardiomyopathy (ARVC). a secondary structure of DSG2 protein (NP_001934.2), which consists of 1118 amino acids. Aims Mutations in the desmoglein-2 (DSG2) gene have been reported in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) but clinical information regarding the associated phenotype is at present limited. Mutations in DSG2 and DSC2 are together less prevalent (10%) than PKP2 mutations (40%) in Dutch TFC+ ARVD/C patients. Therefore, ARVD is currently considered, at least in a subset, a disease of the cardiac desmosome. DSG2 is expressed in many tissues, including the myocardium. At least one mutation in the DSC2 gene has been found to cause a form of keratoderma with woolly hair classified as type III. Conclusions: The mutation of DSG2-F531C is a pathogenic mutation of ARVC, and further, DSG2-F531C caused ARVC in human and knock-in mice is gene dose-dependent. DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. Diseases associated with DSG2 include arrhythmogenic right ventricular dysplasia 10, and cardiomyopathy, dilated, 1bb. 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