P2RX2
Function
ATP-gated nonselective transmembrane cation channel permeable to potassium, sodium and calcium (PubMed:10570044, PubMed:31636190). Activation by extracellular ATP induces a variety of cellular responses, such as excitatory postsynaptic responses in sensory neurons, neuromuscular junctions (NMJ) formation, hearing, perception of taste and peristalsis (By similarity). In the inner ear, regulates sound transduction and auditory neurotransmission, outer hair cell electromotility, inner ear gap junctions, and K(+) recycling (PubMed:23345450). Mediates synaptic transmission between neurons and from neurons to smooth muscle (By similarity).
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the P2X receptor family.
Tissue Specificity
Expressed in both the central and peripheral nervous system, as well as in the pituitary gland.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
- Localizes to the apical membranes of hair cells in the organ of Corti.
Alternative names
P2X2, P2RX2, P2X purinoceptor 2, ATP receptor, Purinergic receptor