P2RX2
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. Six transcript variants encoding six distinct isoforms have been identified for this gene. [provided by RefSeq]
Full Name
purinergic receptor P2X, ligand-gated ion channel, 2
Function
Ion channel gated by extracellular ATP involved in a variety of cellular responses, such as excitatory postsynaptic responses in sensory neurons, neuromuscular junctions (NMJ) formation, hearing, perception of taste and peristalsis. In the inner ear, regulates sound transduction and auditory neurotransmission, outer hair cell electromotility, inner ear gap junctions, and K+ recycling. Mediates synaptic transmission between neurons and from neurons to smooth muscle.
Biological Process
Behavioral response to painIEA:Ensembl
Detection of hypoxic conditions in blood by carotid body chemoreceptor signalingIEA:Ensembl
Neuromuscular junction developmentIEA:Ensembl
Neuromuscular synaptic transmissionIEA:Ensembl
PeristalsisIEA:Ensembl
Positive regulation of calcium ion transport into cytosol1 PublicationNAS:BHF-UCL
Positive regulation of calcium-mediated signaling1 PublicationNAS:BHF-UCL
Response to ATPIEA:Ensembl
Response to carbohydrateIEA:Ensembl
Response to hypoxiaIEA:Ensembl
Response to ischemiaISS:ARUK-UCL
Sensory perception of soundManual Assertion Based On ExperimentIMP:UniProtKB
Sensory perception of tasteIEA:Ensembl
Skeletal muscle fiber developmentIEA:Ensembl
Urinary bladder smooth muscle contractionIEA:Ensembl
Cellular Location
Cell membrane
Localizes to the apical membranes of hair cells in the organ of Corti.
Involvement in disease
Deafness, autosomal dominant, 41 (DFNA41):
A form of non-syndromic deafness characterized by onset of progressive sensorineural hearing loss usually in the second decade. The hearing loss is severe and ultimately affects all frequencies. Exposure to noise exacerbates the hearing loss, particularly at high frequencies.
Topology
Cytoplasmic: 1-42
Helical: 43-63
Extracellular: 64-337
Helical: 338-358
Cytoplasmic: 359-471
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Datasheet