InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: P2RX2

Summary

InnateDB Protein

IDBP-65494.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

P2RX2

Protein Name

purinergic receptor P2X, ligand-gated ion channel, 2

Synonyms

DFNA41; P2X2;

Species

Homo sapiens

Ensembl Protein

ENSP00000341419

InnateDB Gene

IDBG-65492 (P2RX2)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:23345450}.

Subcellular Localization

Cell membrane {ECO:0000269PubMed:23345450}; Multi-pass membrane protein {ECO:0000269PubMed:23345450}. Note=Localizes to the apical membranes of hair cells in the organ of Corti.

Disease Associations

Deafness, autosomal dominant, 41 (DFNA41) [MIM:608224]: 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. {ECO:0000269PubMed:23345450, ECO:0000269PubMed:24211385}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001614	purinergic nucleotide receptor activity
GO:0004931	extracellular ATP-gated cation channel activity
GO:0005216	ion channel activity
GO:0005524	ATP binding
GO:0015276	ligand-gated ion channel activity
GO:0042802	identical protein binding

Biological Process

GO:0006811	ion transport
GO:0006812	cation transport
GO:0007605	sensory perception of sound
GO:0010524	positive regulation of calcium ion transport into cytosol
GO:0034220	ion transmembrane transport
GO:0035590	purinergic nucleotide receptor signaling pathway
GO:0050850	positive regulation of calcium-mediated signaling
GO:0051260	protein homooligomerization

Cellular Component

GO:0005639	integral component of nuclear inner membrane
GO:0005887	integral component of plasma membrane
GO:0016020	membrane
GO:0016324	apical plasma membrane
GO:0043235	receptor complex