DSC2, Official Symbol DSC2provided by HGNC Official Full Name desmocollin 2provided by HGNC Primary source HGNC:HGNC:3036 See related Ensembl:ENSG00000134755 MIM:125645; AllianceGenome:HGNC:3036 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DG2; DSC3; CDHF2; ARVD11; DGII/III Summary This gene encodes a member of the desmocollin protein subfamily. Desmocollins, along with desmogleins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmocollin family members on chromosome 18. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11, and reduced protein expression has been described in several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015] Expression Biased expression in esophagus (RPKM 95.9), colon (RPKM 34.9) and 8 other tissues See more Orthologs mouse all