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FLASH GENE
Symbol P2RX2 contributors: mct - updated : 28-08-2014
HGNC name purinergic receptor P2X, ligand-gated ion channel, 2
HGNC id 15459
Corresponding disease
DFNA41 neurosensory deafness 41
Location 12q24.33      Physical location : 133.195.402 - 133.198.972
Synonym symbol(s) P2X2
DNA
TYPE functioning gene
STRUCTURE 3.57 kb     11 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 splicing 1830 51 417 - 2006 16467187
  • isoform (A), P2RX2A
  • 12 splicing 1629 44 404 - 2006 16467187
  • P2RX2B
  • lacking an in-frame segment of the coding region compared to variant 1
  • isoform (B)
  • 3 splicing 1758 49 447 - 2006 16467187
  • P2RX2C
  • lacking an in-frame segment of the coding region compared to variant 1
  • isoform (C)
  • 10 splicing 1908 54 497 - 2006 16467187
  • P2RX2D
  • containing an additional in-frame segment in the coding region compared to variant 1
  • isoform (D)
  • 9 splicing 1554 41 379 - 2006 16467187
  • P2RX2H
  • lacking an in-frame segment of the coding region compared to variant 1
  • isoform (H)
  • 9 splicing 1614 43 399 - 2006 16467187
  • P2RX2I
  • using an alternate splice site for its most 5' exon
  • missing 2 internal coding exons compared to variant 1
  • isoform (I)
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/EquilibriumearinnercochleaCorti  Homo sapiens
    Nervousnerve     Homo sapiens
     spinal cord     Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Hearing / Equilibriumhair cell receptor Homo sapiens
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • ATP-binding sites
  • C-terminal structure playing a critical role in the cytoplasmic intersubunit interactions
  • conjugated GlycoP
    mono polymer homomer , heteromer , polymer
    HOMOLOGY
    interspecies ortholog to rattus P2rx2
    ortholog to murine P2rx2
    homolog to zebrafish p2rx2
    Homologene
    FAMILY P2X receptor family
    CATEGORY signaling , receptor membrane , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    text integral to membrane
    basic FUNCTION
  • mediating synaptic transmission between neurons and from neurons to smooth muscle
  • acting as a ligand-gated ion channel
  • involved in transmission of taste, from taste buds to gustatory nerves, via its ligand, ATP
  • ligand-gated ion channel that is widely expressed by neurons in the central nervous system
  • in hypothalamic neurons is associated with the regulation of food intake
  • oligomeric ATP-gated ion channels selective to cations and involved in physiological processes as diverse as synaptic transmission, the response to inflammation, and pain perception
  • mobile ATP sensor, sampling more of the dendritic plasma membrane in response to ATP
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text
  • ion transport
  • PATHWAY
    metabolism
    signaling neurotransmission
  • calcium signaling pathway
  • a component homo- or heteropolymers
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP, and when binding extracellular ATP, a conformational change occurs that opens a transmembrane ion channel
  • protein
  • VSNL1 interacting with P2X2 receptor
  • association of P2RX2 and GABRA1 could be used for specific targeting to neuronal membranes, thus providing an extrasynaptic receptor reserve that could regulate the excitability of neurons
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNA41
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • P2X-knockout mice show greatly reduced behavioral responses to sweeteners, glutamate, and bitter substances
  • P2RX2-null mice developed severe progressive hearing loss, and their early exposure to continuous moderate noise led to high-frequency hearing loss as young adults