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    P2RX3 purinergic receptor P2X 3 [ Homo sapiens (human) ]

    Gene ID: 5024, updated on 5-Mar-2024

    Summary

    Official Symbol
    P2RX3provided by HGNC
    Official Full Name
    purinergic receptor P2X 3provided by HGNC
    Primary source
    HGNC:HGNC:8534
    See related
    Ensembl:ENSG00000109991 MIM:600843; AllianceGenome:HGNC:8534
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    P2X3
    Summary
    This gene encodes a member of the P2X purinergic receptor (purinoceptor) gene family which includes seven members (P2RX1 - P2RX7). P2X purinoceptors are a family of cation-permeable, ligand-gated ion channels that open in response to the binding of extracellular adenosine 5'-triphosphate (ATP). The encoded protein is a subunit of the trimeric P2X3 receptor ion channel which is expressed by sensory or autonomic neurons. A deficiency of the orthologous protein in mice is associated with reduced pain-related behavior and urinary bladder hyporeflexia. [provided by RefSeq, Aug 2017]
    Expression
    Biased expression in testis (RPKM 1.0), heart (RPKM 0.8) and 6 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    11q12.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (57335950..57372396)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (57285441..57321889)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (57105826..57139869)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:57067393-57068592 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:57070511-57071048 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:57071049-57071584 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:57071585-57072121 Neighboring gene tankyrase 1 binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3343 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3344 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4714 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:57092719-57093592 Neighboring gene small nucleolar RNA U13 Neighboring gene structure specific recognition protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4715 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3345 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4716 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:57117303-57117802 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:57132373-57132874 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:57136946-57138145 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:57146812-57148011 Neighboring gene proteoglycan 3, pro eosinophil major basic protein 2 Neighboring gene proteoglycan 2, pro eosinophil major basic protein

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC129956

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in behavioral response to pain IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in calcium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular response to ATP IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in establishment of localization in cell IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in excitatory postsynaptic potential IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inorganic cation transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neuromuscular synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in peristalsis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of calcium ion transport into cytosol NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of calcium-mediated signaling NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in protein homotrimerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in purinergic nucleotide receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of synaptic plasticity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to carbohydrate IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to cold IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to heat IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to mechanical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sensory perception of taste IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in urinary bladder smooth muscle contraction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Schaffer collateral - CA1 synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
     
    located_in hippocampal mossy fiber to CA3 synapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
     
    part_of receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    P2X purinoceptor 3
    Names
    ATP receptor
    P2X receptor, subunit 3
    purinergic receptor P2X, ligand gated ion channel, 3
    purinergic receptor P2X3
    purinoceptor P2X3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_002559.5NP_002550.2  P2X purinoceptor 3

      See identical proteins and their annotated locations for NP_002550.2

      Status: REVIEWED

      Source sequence(s)
      AP000781, BC069162, BC074792, DB462670, HY032450
      Consensus CDS
      CCDS7953.1
      UniProtKB/Swiss-Prot
      P56373, Q6DK37, Q9UQB6
      Related
      ENSP00000263314.2, ENST00000263314.3
      Conserved Domains (1) summary
      pfam00864
      Location:8363
      P2X_receptor; ATP P2X receptor

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      57335950..57372396
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545070.3XP_011543372.1  P2X purinoceptor 3 isoform X1

      See identical proteins and their annotated locations for XP_011543372.1

      UniProtKB/Swiss-Prot
      P56373, Q6DK37, Q9UQB6
      Conserved Domains (1) summary
      pfam00864
      Location:8363
      P2X_receptor; ATP P2X receptor
    2. XM_011545069.3XP_011543371.1  P2X purinoceptor 3 isoform X1

      See identical proteins and their annotated locations for XP_011543371.1

      UniProtKB/Swiss-Prot
      P56373, Q6DK37, Q9UQB6
      Conserved Domains (1) summary
      pfam00864
      Location:8363
      P2X_receptor; ATP P2X receptor
    3. XM_011545072.3XP_011543374.1  P2X purinoceptor 3 isoform X3

      Conserved Domains (1) summary
      pfam00864
      Location:1289
      P2X_receptor; ATP P2X receptor
    4. XM_011545071.3XP_011543373.1  P2X purinoceptor 3 isoform X2

      Conserved Domains (1) summary
      pfam00864
      Location:8361
      P2X_receptor; ATP P2X receptor
    5. XM_011545073.2XP_011543375.1  P2X purinoceptor 3 isoform X4

      Conserved Domains (1) summary
      cl02993
      Location:1199
      P2X_receptor; ATP P2X receptor

    RNA

    1. XR_949950.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      57285441..57321889
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368990.1XP_054224965.1  P2X purinoceptor 3 isoform X5

    2. XM_054368989.1XP_054224964.1  P2X purinoceptor 3 isoform X5

    3. XM_054368992.1XP_054224967.1  P2X purinoceptor 3 isoform X7

    4. XM_054368988.1XP_054224963.1  P2X purinoceptor 3 isoform X5

    5. XM_054368991.1XP_054224966.1  P2X purinoceptor 3 isoform X6

    6. XM_054368993.1XP_054224968.1  P2X purinoceptor 3 isoform X8