DSC2 Back

desmocollin 2

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of DSC2
The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11. Alternative splicing results in two transcript variants encoding distinct isoforms.

Community Annotation of DSC2 Add / Edit DSC2: Annotations

No community annotations yet for DSC2.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

DSC2 is highly significantly mutated in
(none)
DSC2 is significantly mutated in
(none)
DSC2 is near significance in
(none)

Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for DSC2