ASIC2 Gene Summary [Human]
This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 3 has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Feb 2012]
Details
| Type | Protein Coding |
| Official Symbol | ASIC2 |
| Official Name | acid sensing ion channel subunit 2 [Source:HGNC Symbol;Acc:HGNC:99] |
| Ensembl ID | ENSG00000108684 |
| Bio databases IDs | |
| Aliases | acid sensing ion channel subunit 2, degenerin |
| Synonyms | ACCN, ACCN1, ACIC2, acid-sensing ion channel 2, acid sensing ion channel subunit 2, ASIC2a, BNaC1, BNaC1a, BNC1, BNC1k, degenerin, hBNaC1, MDEG, MDEG1, MDEG2 |
| 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 ASIC2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- voltage-gated sodium channel
- channel/pore class transporter
- amiloride-sensitive sodium channel
- sodium channel transporter
- ligand-gated ion channel
- protein binding
- pore domain
- ion channel
- cation channel
- degenerin
Pathways
Biological processes and signaling networks where the ASIC2 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
- osteoarthritis
- seizures
- heart failure
- COVID-19
- hypertension
- proteinuria
- pneumonia
- acute myeloid leukemia
- major depression
- essential hypertension
role in cell
- apoptosis
- growth
- transmembrane potential
- assembly
- response 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
- membrane fraction
- Cytoplasm
- reticular fibers
- cellular membrane
- synaptic membrane
- dendritic spines
- neurites
- nerve ending
- synapse
- perikaryon
- dendrites
- penicillate terminals
- palisade terminals
- dendritic branches
- axon branches
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ASIC2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sensory perception of sour taste
- peripheral nervous system development
- synaptic transmission
- phototransduction
- regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback
- sensory perception of sound
- synapse assembly
- regulation of membrane potential
- central nervous system development
- negative regulation of apoptotic process
- cellular response to acidity
- regulation of ion transmembrane transport
- sodium ion transmembrane transport
- cellular response to xenobiotic stimulus
- establishment of localization in cell
- protein localization to synapse
- positive regulation of synapse assembly
- regulation of vasoconstriction
- detection of mechanical stimulus involved in sensory perception
Cellular Component
Where in the cell the gene product is active
- dendritic spine
- neuronal cell body
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- ion gated channel activity
- protein binding
- ligand-gated sodium channel activity
- voltage-gated sodium channel activity