DSC2

Gene Symbol DSC2
Entrez Gene 1824
Alt Symbol ARVD11, CDHF2, DG2, DGII/III, DSC3
Species Human
Gene Type protein-coding
Description desmocollin 2
Other Description cadherin family member 2|desmocollin-2|desmosomal glycoprotein II/III
Swissprots Q02487
Accessions ABM88172 CAL91822 CAL91823 EAX01250 EAX01251 Q02487 AK290313 BAF83002 AK297029 BAG59557 BC063291 AAH63291 BE350090 BE813598 BU735677 BX648425 CAH56152 CR749226 CAH18082 DC382631 EF017811 ABM88170 EF017812 ABM88171 X56807 CAA40141 XM_005258206 XP_005258263 NM_004949 NP_004940 NM_024422 NP_077740
Function Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms.
Subcellular Location Cell membrane {ECO:0000269|PubMed:21062920}; Single-pass type I membrane protein {ECO:0000269|PubMed:21062920}. Cell junction, desmosome {ECO:0000269|PubMed:21062920}.
Tissue Specificity Expressed in epithelia, myocardium and lymph nodes.
Top Pathways Arrhythmogenic right ventricular cardiomyopathy (ARVC)