DSC2 Gene Summary [Human]
This gene encodes a member of the desmocollin protein subfamily. Desmocollins, along with desmogleins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmocollin family members on chromosome 18. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11, and reduced protein expression has been described in several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
Details
| Type | Protein Coding |
| Official Symbol | DSC2 |
| Official Name | desmocollin 2 [Source:HGNC Symbol;Acc:HGNC:3036] |
| Ensembl ID | ENSG00000134755 |
| Bio databases IDs | |
| Aliases | desmocollin 2 |
| Synonyms | ARVD11, CDHF2, desmocollin 2, DG2, DGII/III, DSC3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DSC2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Cadherin, Y-type LIR-motif
- Cadherin prodomain like
- cytoplasmic domain
- intracellular domain
- Cadherin repeat-like domain
- cell adhesion recognition domain
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- arrhythmogenic right ventricular dysplasia familial 11
- psoriasis
- arrhythmogenic right ventricular cardiomyopathy
- septic shock
- ETV6-RUNX1 positive B-lineage acute lymphoblastic leukemia
- cardiac hypertrophy
- preeclampsia
- gastric cancer
- cardiac fibrosis
role in cell
- expression in
- phosphorylation in
- apoptosis
- adhesion
- cell viability
- signaling in
- damage
- organization
- size
- proliferation by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cornified envelope
- cellular membrane
- Endoplasmic Reticulum
- intercellular junctions
- desmosomes
- cytoplasmic vesicles
- cell-cell adherens junctions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DSC2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of heart rate by cardiac conduction
- cell adhesion
- cellular response to starvation
- homophilic cell adhesion
- cardiomyocyte-cardiomyocyte adhesion
- bundle of His cell-Purkinje myocyte adhesion involved in cell communication
Cellular Component
Where in the cell the gene product is active
- adherens junction
- cornified envelope
- extracellular vesicular exosome
- cytoplasmic vesicle
- intercalated disc
- desmosome
- endoplasmic reticulum
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- calcium ion binding
- cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication