InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DSG2

Summary

InnateDB Protein

IDBP-2082.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DSG2

Protein Name

desmoglein 2

Synonyms

ARVC10; ARVD10; CDHF5; CMD1BB; HDGC;

Species

Homo sapiens

Ensembl Protein

ENSP00000261590

InnateDB Gene

IDBG-2080 (DSG2)

Protein Structure

UniProt Annotation

Function

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

Subcellular Localization

Cell membrane; Single-pass type I membrane protein. Cell junction, desmosome.

Disease Associations

Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10) [MIM:610193]: 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. {ECO:0000269PubMed:16773573, ECO:0000269PubMed:19863551, ECO:0000269PubMed:20031617, ECO:0000269PubMed:21062920}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cardiomyopathy, dilated 1BB (CMD1BB) [MIM:612877]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269PubMed:18678517}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

All of the tissues tested and carcinomas.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.

Experimentally validated
Total	23 [view]
Protein-Protein	23 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005509	calcium ion binding

Biological Process

GO:0006915	apoptotic process
GO:0006921	cellular component disassembly involved in execution phase of apoptosis
GO:0007155	cell adhesion
GO:0007156	homophilic cell adhesion
GO:0032570	response to progesterone
GO:0060135	maternal process involved in female pregnancy
GO:0086005	ventricular cardiac muscle cell action potential
GO:0086069	bundle of His cell to Purkinje myocyte communication
GO:0086091	regulation of heart rate by cardiac conduction

Cellular Component

GO:0005886	plasma membrane
GO:0005911	cell-cell junction
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0016324	apical plasma membrane
GO:0016328	lateral plasma membrane
GO:0030057	desmosome
GO:0070062	extracellular vesicular exosome