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DSC2

Basics

Aliases:
This biomarker is also known as:
  • DGII/III,
  • ARVD11,
  • Desmosomal glycoprotein II,
  • DG2,
  • Desmocollin-3,
  • Desmosomal glycoprotein III,
  • CDHF2,
  • DKFZp686I11137,
  • Desmocollin-2,
  • Cadherin family member 2,
  • DSC3,

View in BioMuta

Description…

DSC2, a calcium-dependent glycoprotein, 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 member genes 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, also known as arrhythmogenic right ventricular cardiomyopathy 11, an autosomal dominant disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability, and sudden death. Alternative splicing results in two transcript variants encoding distinct isoforms; DSC2 is encoded by Isoform 2A.

Attributes

QA State: Under Review
Type: Protein
Short Name:
HGNC Name: DSC2

Datasets

There are no datasets associated with this biomarker.

Organs

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact Heather Kincaid at heather.kincaid@jpl.nasa.gov if you should have access to this biomarker.

Studies

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact Heather Kincaid at heather.kincaid@jpl.nasa.gov if you should have access to this biomarker.

Publications

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact Heather Kincaid at heather.kincaid@jpl.nasa.gov if you should have access to this biomarker.

Resources

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact Heather Kincaid at heather.kincaid@jpl.nasa.gov if you should have access to this biomarker.

2015 Steering Committee Meeting

The next EDRN Steering Committee Meeting will take place March 31st through April 2nd, 2015, in Atlanta, Georgia.

Announcement 02/12/2015

Please register for the 29th EDRN Steering Committee Meeting in Atlanta, GA from March 31-April 2, 2015. The registration page has information about booking hotel rooms and a draft agenda of the meeting.

Announcement