P2RX2 Gene Summary [Human]
The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Aug 2013]
Details
| Type | Protein Coding |
| Official Symbol | P2RX2 |
| Official Name | purinergic receptor P2X 2 [Source:HGNC Symbol;Acc:HGNC:15459] |
| Ensembl ID | ENSG00000187848 |
| Bio databases IDs | |
| Aliases | purinergic receptor P2X 2 |
| Synonyms | DFNA41, P2X2, P2X2A, purinergic receptor P2X 2, purinergic receptor P2X, ligand-gated ion channel, 2 |
| 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 P2RX2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- ATP P2X receptor
- ATP binding
- cadmium ion binding
- protein binding
- identical protein binding
- ion channel
- transition metal ion binding
- phosphatidylinositol binding
- copper ion binding
- binding protein
- zinc ion binding
- mercury ion binding
- purinergic nucleotide receptor
- nickel ion binding
- transmembrane domain
- ligand-gated ion channel
- ATP-gated cation channel
- cytosolic tail domain
Pathways
Biological processes and signaling networks where the P2RX2 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
- autosomal dominant deafness type 41
- organismal death
- familial nonsyndromic hearing impairment
- nonsyndromic autosomal dominant hearing impairment
- sporadic age-related sensorineural hearing loss
- mechanical hypersensitivity
- depressive disorder
role in cell
- development
- formation
- synaptic transmission
- action potential
- blebbing in
- exposure in
- exocytosis
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
- glutaminergic synapse
- Cytoplasm
- cell surface
- intracellular space
- cellular membrane
- endoplasmic reticulum membrane
- apical membrane
- presynaptic membrane
- synaptic membrane
- dendritic spines
- neurites
- synapse
- secretory granules
- smooth microsomes
- perikaryon
- dendrites
- postsynaptic density
- axon terminals
- excitatory synapses
- clathrin-coated vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human P2RX2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of excitatory postsynaptic membrane potential
- sensory perception of taste
- neuromuscular synaptic transmission
- purinergic nucleotide receptor signaling pathway
- response to ATP
- response to carbohydrate stimulus
- positive regulation of calcium-mediated signaling
- neuromuscular junction development
- sensory perception of sound
- detection of hypoxic conditions in blood by carotid body chemoreceptor signaling
- response to hypoxia
- response to ischemia
- skeletal muscle fiber development
- behavioral response to pain
- calcium ion transmembrane transport
- positive regulation of calcium ion transport into cytosol
- urinary bladder smooth muscle contraction
- peristalsis
Cellular Component
Where in the cell the gene product is active
- receptor complex
- neuronal cell body
- plasma membrane
- apical plasma membrane
Molecular Function
What the gene product does at the molecular level
- extracellular ATP-gated cation channel activity
- ATP binding
- identical protein binding
- ligand-gated ion channel activity
- purinergic nucleotide receptor activity