SCNN1B 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 beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq, Apr 2009]
Details
| Type | Processed Transcript |
| Official Symbol | SCNN1B |
| Official Name | sodium channel epithelial 1 subunit beta [Source:HGNC Symbol;Acc:HGNC:10600] |
| Ensembl ID | ENSG00000168447 |
| Bio databases IDs | |
| Aliases | sodium channel epithelial 1 subunit beta, Liddle syndrome, amiloride-sensitive sodium channel subunit beta |
| Synonyms | BESC1, beta-ENaC, beta-NaCH, ENaCb, ENaCbeta, Enac β, ENaC β subunit, LIDLS1, Na+ channel β subunit, PHA1B2, RNENACB, SCNEB, Scnnb1, sodium channel epithelial 1 subunit beta, sodium channel epithelial 1 subunit β, sodium channel, nonvoltage-gated 1 beta, sodium channel, nonvoltage-gated 1 β, β-ENaC, β-NaCH |
| 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 SCNN1B 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
- sodium channel transporter
- intracellular domain
- tail domain
- tyrosine phosphorylation site
Pathways
Biological processes and signaling networks where the SCNN1B 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
- heart disease
- heart failure
- bronchiectasis type 1
- autosomal recessive pseudohypoaldosteronism type IB2
- edema
- colorectal cancer
- nephrosis
- congestive heart failure
- hypertension
- Liddle syndrome
role in cell
- activation in
- number
- whole-cell conductance
- healing by
- response by
- homeostasis
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
- intracellular space
- cellular membrane
- cytosol
- plasma membrane extracellular face
- apical membrane
- basolateral membrane
- intercalated disks
- microvilli
- exosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SCNN1B gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to food
- multicellular organism growth
- erythrocyte homeostasis
- potassium ion homeostasis
- aldosterone metabolic process
- sensory perception of sour taste
- sodium ion homeostasis
- epithelial fluid transport
- cellular sodium ion homeostasis
- neutrophil activation involved in immune response
- response to xenobiotic stimulus
- regulation of blood pressure
- renal system process
- sodium ion transport
- leukocyte activation involved in inflammatory response
- mucus secretion
- multicellular organismal water homeostasis
- cellular response to acidity
- sensory perception of salty taste
- gene expression
- artery smooth muscle contraction
- sodium ion transmembrane transport
- neutrophil mediated killing of bacterium
Cellular Component
Where in the cell the gene product is active
- sodium channel complex
- cytoplasmic vesicle membrane
- extracellular vesicular exosome
- external side of plasma membrane
- plasma membrane
- apical plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- ligand-gated sodium channel activity
- WW domain binding