SCNN1D Gene Summary [Human]
Predicted to enable ligand-gated sodium channel activity. Predicted to be involved in sodium ion transmembrane transport. Located in actin cytoskeleton and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | SCNN1D |
| Official Name | sodium channel epithelial 1 subunit delta [Source:HGNC Symbol;Acc:HGNC:10601] |
| Ensembl ID | ENSG00000162572 |
| Bio databases IDs | |
| Aliases | sodium channel epithelial 1 subunit delta |
| Synonyms | delta ENaC, dNaCh, ENaCd, ENaCdelta, SCNED, sodium channel epithelial 1 delta subunit, sodium channel epithelial 1 subunit delta, sodium channel epithelial 1 subunit δ, sodium channel epithelial 1 δ subunit, δ ENaC |
| Species | Human, Homo sapiens |
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 SCNN1D often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- sodium channel
- amiloride-sensitive sodium channel
- sodium channel transporter
- protein binding
- ion channel
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- disorder of coronary artery
- cardiovascular disorder
- hypertension
- heart disease
- resistant hypertension
- myocardial infarction
- proteinuria
- congestive heart failure
- edema
- essential hypertension
regulated by
- amiloride
- H+
- triamterene
- triamcinolone acetonide
regulates
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
- cellular membrane
- actin cytoskeleton
- apical membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SCNN1D gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sodium ion transport
- sensory perception of sour taste
- cellular response to acidity
- cellular sodium ion homeostasis
- sensory perception of salty taste
- sodium ion transmembrane transport
- regulation of blood pressure
Cellular Component
Where in the cell the gene product is active
- sodium channel complex
- membrane
- actin cytoskeleton
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- ligand-gated sodium channel activity