ASIC4 Gene Summary [Human]
This gene belongs to the superfamily of acid-sensing ion channels, which are proton-gated, amiloride-sensitive sodium channels. These channels have been implicated in synaptic transmission, pain perception as well as mechanoperception. This gene is predominantly expressed in the pituitary gland, and was considered a candidate for paroxysmal dystonic choreoathetosis (PDC), a movement disorder, however, no correlation was found between mutations in this gene and PDC. [provided by RefSeq, Feb 2012]
Details
| Type | Retained Intron |
| Official Symbol | ASIC4 |
| Official Name | acid sensing ion channel subunit family member 4 [Source:HGNC Symbol;Acc:HGNC:21263] |
| Ensembl ID | ENSG00000072182 |
| Bio databases IDs | |
| Aliases | acid sensing ion channel subunit family member 4 |
| Synonyms | ACCN4, acid-sensing ion channel family member 4, acid sensing ion channel subunit family member 4, BNAC4, Spasic |
| 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 ASIC4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- 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
- hypertension
- proteinuria
- cardiovascular disorder
- edema
- essential hypertension
- disorder of coronary artery
- heart failure
- coronary disease
- hypernatremia
- chronic kidney disease
regulated by
- beta-estradiol
- amiloride
- estradiol-17beta-benzoate
- TSC1
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
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ASIC4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sodium ion transmembrane transport
- behavioral fear response
Cellular Component
Where in the cell the gene product is active
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- ion channel activity
- protein binding
- ligand-gated sodium channel activity
- sodium ion transmembrane transporter activity