DSG2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | DSG2 |
| Official Name | desmoglein 2 [Source:HGNC Symbol;Acc:HGNC:3049] |
| Ensembl ID | ENSG00000046604 |
| Bio databases IDs | |
| Aliases | desmoglein 2 |
| Synonyms | CDHF5, D18Ertd293e, desmoglein 2, HDGC, LOC100044500 |
| 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 DSG2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Bacterial cadherin-like domain
- extracellular domain
- cytoplasmic domain
- ectodomain
- cell adhesion molecule binding
- intracellular anchoring domain
- intracellular domain
- Cadherin repeat-like domain
- cell adhesion recognition domain
- protein binding
- intracellular cadherin-like sequence
- unique protein domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- gastric adenocarcinoma
- epithelial cancer
- epithelial neoplasia
- neoplasia
- epithelial thyroid cancer
- lymphatic neoplasia
- Alzheimer disease
- arrhythmogenic right ventricular dysplasia familial 10
- prostatic adenocarcinoma
- prostate cancer
role in cell
- proliferation
- expression in
- apoptosis
- phosphorylation in
- organization
- migration
- cell proliferation
- colonization by
- differentiation
- capillarogenesis 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
- pH resistant lipid raft fraction
- detergent resistant lipid raft fraction
- cornified envelope
- cell junction
- intracellular membrane-bounded organelle
- Cytoplasm
- cell surface
- cell borders
- cellular membrane
- intercellular junctions
- desmosomes
- cell-cell contacts
- apical membrane
- basolateral membrane
- lateral plasma membrane
- membrane rafts
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DSG2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- maternal process involved in female pregnancy
- desmosome organization
- response to progesterone stimulus
- regulation of heart rate by cardiac conduction
- cell adhesion
- cardiac Purkinje fiber development
- homophilic cell adhesion
- bundle of His cell-Purkinje myocyte adhesion involved in cell communication
Cellular Component
Where in the cell the gene product is active
- cornified envelope
- lateral plasma membrane
- cell-cell junction
- extracellular vesicular exosome
- intracellular membrane-bounded organelle
- cell junction
- intercalated disc
- desmosome
- apical plasma membrane
- plasma membrane
- cell surface
Molecular Function
What the gene product does at the molecular level
- protein binding
- calcium ion binding
- cell adhesion molecule binding
- cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication