At least one mutation in the DSC2 gene has been found to cause a form of keratoderma with woolly hair classified as type III. The DSG2 gene encodes the protein desmoglein-2. KEGG is a database resource for understanding high-level functions and utilities of the biological system, such as the cell, the organism and the ecosystem, from molecular-level information, especially large-scale molecular datasets generated by genome sequencing and … (3) Phenotypic influence on lethal VAs was less potent in truncating mutation carriers whose arrhythmic risk was independent of phenotype severity. All probands fulfilled task force criteria for ARVC. 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. (2) Cardiac outcome could be stratified by mutation status and age. Conclusions-Mutations in DSG2 and DSC2 are together less prevalent (10%) than PKP2 mutations (40%) in Dutch TFC+ ARVD/C patients. Diseases associated with DSG2 include arrhythmogenic right ventricular dysplasia 10, and cardiomyopathy, dilated, 1bb. (provided by RefSeq, Jul 2008) GeneCards Summary for DSG2 Gene: DSG2 (desmoglein 2) is a protein-coding gene. These results show that DSG2-F531C mutation can destroy the structure of desmosome. No association between mutations in this gene and human disease has been reported elsewhere. The study has revealed a greater frequency of occurrence of PKP2 mutations when compared to DSG2 mutations. Nine heterozygous DSG2 mutations (5 missense, 2 insertion-deletions, 1 nonsense, and 1 splice site mutation) were detected in subjects with ARVC. The primary role of the desmosome is to adhere cells to each other, thus maintaining the structural integrity of skin and muscle tissues. DSG2 is an essential component of the desmosome so mutations of this gene disrupt the proper organization of desmosomal junctions. Mutations in DSG2 and DSP each account for approximately 10% to 15% of cases. Mutations in the DSG2-gene are regarded to cause arrhythmogenic (right ventricular) cardiomyopathy (ARVC) which is a rare but severe heart muscle disease. Desmocollin-2 has been shown to interact with: DSG2; JUP; References Nine heterozygous DSG2 mutations (5 missense, 2 insertion-deletions, 1 nonsense, and 1 splice site mutation) were detected in 8 probands (10%). The molecular pathomechanisms of the vast majority of DSG2 mutations, however, are unknown. PMID: 16505173; mutations in DSG2 contribute to the development ofarrhythmogenic right ventricular dysplasia/cardiomyopathy PMID: 16773573 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. 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 … The pathogenic mutation related to ARVC/D, hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) were displayed according to PubMed ClinVar and recent reports from PubMed. Studies investigating two heterozygous DSC2 mutations have shown that certain mutations in the N-terminal region can modify the subcellular localization of desmocollin-2 from the desmosomal plaque to the cytoplasm. 17 Because of the association between mutations in three components of the cardiac desmosome and ARVD/C, we analyzed probands with this disorder for mutations in DSG2, which encodes desmoglein-2. One of these probands has compound-heterozygous mutations in DSG2, and the remaining three have isolated heterozygous missense mutations, each disrupting known functional components of desmoglein-2. Desmoglein-2 (Dsg2) is a specific cadherin of the cell-cell contact in cardiac desmosomes. The majority of causative variants are missense mutations, however, nonsense, small insertions or deletions, and splicing mutations have also been reported. An endomyocardial biopsy was obtained in 5, showing extensive … These results further support the recent human genetic findings that loss of function mutations in the CSTA gene result in skin fragility due to impaired cell-cell adhesion: autosomal-recessive exfoliative ichthyosis or acral peeling skin syndrome. To identify early changes in gene expression that are caused by Dsg2 mutation, transcriptome profiles of heart tissue were determined for 2-week-old, macroscopically normal-appearing hearts of Dsg2 mt/mt mice and compared to those of matched hearts obtained from Dsg2 wt/wt and Dsg2 mt/wt mice (n=3 in each instance). Mutations in DSG2 and DSC2 are together less prevalent (10%) than PKP2 mutations (40%) in Dutch TFC+ ARVD/C patients. a secondary structure of DSG2 protein (NP_001934.2), which consists of 1118 amino acids. Interactions. Diseases associated with DSG1 include Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige and Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse.Among its related pathways are Keratinization and Apoptotic execution phase. Keratoderma with woolly hair. 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. View mouse Dsg2 Chr18:20558074-20604521 with: phenotypes, sequences, polymorphisms, proteins, references, function, expression Further supporting evidence for a pathogenic role comes from a report of a similar mutation at amino acid position 812 of DSG2 (heterozygous glycine to cysteine change: DSG2 G812C), which has been found to be causative for ARVC in a U.S. patient. Haploinsufficiency phenotype comments: Desmoglein-2 (DSG2) is a member of the desmoglein family and is expressed in myocardium. Our findings here offer a novel pathway of CSTA regulation involving Dsg2 and a potential crosstalk between Dsg2 and CSTA that modulates cell adhesion. This protein is part of the desmosome complex, which is present in both muscle and skin cells. 2,3 The majority of these mutations are insertion/deletion or nonsense mutations, which are expected to cause premature termination of the encoded proteins. In this study, we aimed to clinically characterize probands and family members carrying a DSG2 mutation. Abstract. DSG2 is expressed in many tissues, including the myocardium. 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