P2RX2 gene

purinergic receptor P2X 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Deafness, autosomal dominant 41

From UniProt:

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. [MIM:608224]

Cytogenetic Location: 12q24.33, which is the long (q) arm of chromosome 12 at position 24.33

Molecular Location: base pairs 132,618,780 to 132,623,678 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12q24.33, which is the long (q) arm of chromosome 12 at position 24.33
  • DFNA41
  • P2X2