DSG2

desmoglein 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. Desmogleins are calcium-binding transmembrane glycoprotein components of desmosomes, cell-cell junctions between epithelial, myocardial, and other cell types. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This gene is present in a gene cluster with other desmoglein gene family members on chromosome 18. Mutations in this gene have been associated with arrhythmogenic right ventricular dysplasia, familial, 10. [provided by RefSeq, Jan 2016]

From UniProt:

Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Arrhythmogenic right ventricular cardiomyopathy, type 10
  • Dilated cardiomyopathy 1BB

From UniProt:

Cardiomyopathy, dilated 1BB (CMD1BB): A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. [MIM:612877]

Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10): A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. [MIM:610193]

Cytogenetic Location: 18q12.1, which is the long (q) arm of chromosome 18 at position 12.1

Molecular Location: base pairs 31,498,004 to 31,549,008 on chromosome 18 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 18q12.1, which is the long (q) arm of chromosome 18 at position 12.1
  • CDHF5
  • HDGC