InnateDB Protein
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IDBP-65496.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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P2RX2
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Protein Name
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purinergic receptor P2X, ligand-gated ion channel, 2
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Synonyms
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DFNA41; P2X2;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000344502
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InnateDB Gene
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IDBG-65492 (P2RX2)
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Protein Structure
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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}.
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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.
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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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001429
P2X purinoreceptor
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PFAM |
PF00864
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PRINTS |
PR01307
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9UBL9
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PhosphoSite |
PhosphoSite-Q9UBL9
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
22953
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UniGene |
Hs.258580
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RefSeq |
NP_777361
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HUGO |
HGNC:15459
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OMIM |
600844
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CCDS |
CCDS31935
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HPRD |
15984
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IMGT |
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EMBL |
AC131212
AF109387
AF109388
AF190822
AF190823
AF190824
AF190825
AF190826
AF260426
AF260427
AF260428
AF260429
AY346374
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GenPept |
AAD42947
AAD42948
AAF19170
AAF19171
AAF19172
AAF19173
AAF19174
AAF74201
AAF74202
AAF74203
AAF74204
AAQ54329
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