DSC2

DSC2
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	5J5J, 5ERP
Identifiers
Aliases	DSC2, ARVD11, CDHF2, DG2, DGII/III, DSC3, desmocollin 2
External IDs	OMIM: 125645; MGI: 103221; HomoloGene: 8397; GeneCards: DSC2; OMA:DSC2 - orthologs
Gene location (Human)
Chr.	Chromosome 18 (human)
End	31,102,522 bp
Gene location (Mouse)
Chr.	Chromosome 18 (mouse)
End	20,192,611 bp
RNA expression pattern
	Top expressed in
	gingival epithelium; ; oral cavity; ; mucosa of pharynx; ; mucosa of sigmoid colon; ; jejunal mucosa; ; body of tongue; ; human penis; ; vulva; ; parotid gland; ; amniotic fluid;
	Top expressed in
	conjunctival fornix; ; corneal stroma; ; epithelium of stomach; ; esophagus; ; pyloric antrum; ; mucous cell of stomach; ; cervix; ; ileum; ; jejunum; ; left colon;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication; calcium ion binding; protein binding; metal ion binding;
Cellular component	integral component of membrane; cell junction; desmosome; extracellular exosome; cytoplasmic vesicle; membrane; intercalated disc; cornified envelope; plasma membrane; cell-cell junction;
Biological process	cellular response to starvation; cell adhesion; bundle of His cell-Purkinje myocyte adhesion involved in cell communication; regulation of heart rate by cardiac conduction; regulation of ventricular cardiac muscle cell action potential; homophilic cell adhesion via plasma membrane adhesion molecules; cardiac muscle cell-cardiac muscle cell adhesion; keratinization; cornification; cell-cell adhesion;
	Sources:Amigo / QuickGO
Orthologs
	1824
	13506
	ENSG00000134755
	ENSMUSG00000024331
	Q02487
	P55292
	NM_004949; NM_024422
	NM_013505; NM_001317363; NM_001317365
	NP_004940; NP_077740
	NP_001304292; NP_001304294; NP_038533
	Wikidata
View/Edit Human	View/Edit Mouse

Desmocollin-2 is a protein that in humans is encoded by the DSC2 gene. Desmocollin-2 is a cadherin-type protein that functions to link adjacent cells together in specialized regions known as desmosomes. Desmocollin-2 is widely expressed, and is the only desmocollin isoform expressed in cardiac muscle, where it localizes to intercalated discs. Mutations in DSC2 have been causally linked to arrhythmogenic right ventricular cardiomyopathy.