SCNN1G Gene Summary [Human]
Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the gamma subunit, and mutations in this gene have been associated with Liddle syndrome. [provided by RefSeq, Apr 2009]
Details
| Type | Protein Coding |
| Official Symbol | SCNN1G |
| Official Name | sodium channel epithelial 1 subunit gamma [Source:HGNC Symbol;Acc:HGNC:10602] |
| Ensembl ID | ENSG00000166828 |
| Bio databases IDs | |
| Aliases | sodium channel epithelial 1 subunit gamma, amiloride-sensitive sodium channel subunit gamma |
| Synonyms | BESC3, ENaC, ENaCg, ENaC gamma, ENaC γ, epithelial sodium channel, γ subunit, gamma ENAC, LDLS2, PHA1, PHA1B3, SCNEG, sodium channel epithelial 1 subunit gamma, sodium channel epithelial 1 subunit γ, sodium channel, nonvoltage-gated 1 gamma, sodium channel, nonvoltage-gated 1 γ, γ ENAC |
| 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 SCNN1G 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
- PPXY motif
- sodium ion transporter
- amiloride-sensitive sodium channel
- WW domain binding
- PPPXY motif
- protein binding
- thumb domain
- proline tyrosine motif
- ion channel
- degenerin
- ubiquitin binding domain
- sodium channel transporter
Pathways
Biological processes and signaling networks where the SCNN1G gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hypertension
- coronary disease
- disorder of coronary artery
- heart failure
- essential hypertension
- chronic kidney disease
- colorectal cancer
- heart disease
- Liddle syndrome type 2
- bronchiectasis type 3
role in cell
- activation in
- molecular cleavage in
- whole-cell conductance
- migration by
- response by
- healing 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
- Cytoplasm
- cell surface
- cellular membrane
- cytosol
- plasma membrane extracellular face
- apical membrane
- basolateral membrane
- nucleoplasm
- microvilli
- exosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SCNN1G gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sodium ion transport
- multicellular organismal water homeostasis
- sensory perception of sour taste
- sodium ion homeostasis
- 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
- extracellular vesicular exosome
- external side of plasma membrane
- apical plasma membrane
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ion channel activity
- protein binding
- sodium channel activity
- ligand-gated sodium channel activity
- WW domain binding