InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DSC2

Summary

InnateDB Protein

IDBP-1954.6

Last Modified

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

Gene Symbol

DSC2

Protein Name

desmocollin 2

Synonyms

ARVD11; CDHF2; DG2; DGII/III; DSC3;

Species

Homo sapiens

Ensembl Protein

ENSP00000280904

InnateDB Gene

IDBG-1950 (DSC2)

Protein Structure

UniProt Annotation

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 Localization

Cell membrane {ECO:0000269PubMed:21062920}; Single-pass type I membrane protein {ECO:0000269PubMed:21062920}. Cell junction, desmosome {ECO:0000269PubMed:21062920}.

Disease Associations

Arrhythmogenic right ventricular dysplasia, familial, 11 (ARVD11) [MIM:610476]: 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:17033975, ECO:0000269PubMed:19863551, ECO:0000269PubMed:21062920}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in epithelia, myocardium and lymph nodes.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.

Experimentally validated
Total	8 [view]
Protein-Protein	8 [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
GO:0005515	protein binding

Biological Process

GO:0007155	cell adhesion
GO:0007156	homophilic cell adhesion
GO:0009267	cellular response to starvation
GO:0086005	ventricular cardiac muscle cell action potential
GO:0086042	cardiac muscle cell-cardiac muscle cell adhesion
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:0005913	cell-cell adherens junction
GO:0014704	intercalated disc
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0030057	desmosome
GO:0031410	cytoplasmic vesicle
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR000233 Cadherin, cytoplasmic domain
IPR002126 Cadherin
IPR009122 Desmosomal cadherin
IPR009124 Cadherin/Desmocollin
IPR014868 Cadherin prodomain
IPR015919 Cadherin-like

PFAM

PF01049
PF00028
PF08758

PRINTS

PR00205
PR01818
PR01820

PIRSF

SMART

SM00112
SM01055

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt