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    P2RX6 purinergic receptor P2X 6 [ Homo sapiens (human) ]

    Gene ID: 9127, updated on 16-Oct-2021

    Summary

    Official Symbol
    P2RX6provided by HGNC
    Official Full Name
    purinergic receptor P2X 6provided by HGNC
    Primary source
    HGNC:HGNC:8538
    See related
    Ensembl:ENSG00000099957 MIM:608077
    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
    P2X6; P2XM; P2RXL1
    Summary
    The protein encoded by this gene belongs to the family of P2X receptors, which are ATP-gated ion channels and mediate rapid and selective permeability to cations. This gene is predominantly expressed in skeletal muscle, and regulated by p53. The encoded protein is associated with VE-cadherin at the adherens junctions of human umbilical vein endothelial cells. Alternative splicing results in multiple transcript variants. A related pseudogene, which is also located on chromosome 22, has been identified. [provided by RefSeq, Apr 2009]
    Expression
    Broad expression in spleen (RPKM 2.6), brain (RPKM 2.0) and 17 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See P2RX6 in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (21009699..21028013)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (21369442..21382302)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene leucine zipper like transcription regulator 1 Neighboring gene THAP domain containing 7 Neighboring gene THAP7 antisense RNA 1 Neighboring gene tubulin alpha 3f pseudogene Neighboring gene solute carrier family 7 member 4 Neighboring gene microRNA 649

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.
    GeneReviews: Not available

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC129625

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables channel activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables extracellularly ATP-gated cation channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables extracellularly ATP-gated cation channel activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables purinergic nucleotide receptor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables transmembrane signaling receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cation transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in excitatory postsynaptic potential IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in muscle contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in purinergic nucleotide receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to ATP IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in dendritic spine IEA
    Inferred from Electronic Annotation
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in integral component of nuclear inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in integral component of postsynaptic specialization membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in parallel fiber to Purkinje cell synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in postsynaptic density 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 6
    Names
    ATP receptor
    purinergic receptor P2X, ligand gated ion channel, 6
    purinergic receptor P2X-like 1, orphan receptor
    purinoceptor P2X6
    purinoreceptor P2X6
    skeletal muscle-expressed P2X

    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_001159554.2NP_001153026.1  P2X purinoceptor 6 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AC002472
      Consensus CDS
      CCDS54504.1
      UniProtKB/Swiss-Prot
      O15547
      Related
      ENSP00000385309.1, ENST00000401443.5
      Conserved Domains (1) summary
      TIGR00863
      Location:11348
      P2X; cation transporter protein
    2. NM_001349874.2NP_001336803.1  P2X purinoceptor 6 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in its 5' region and lacks an alternate exon, resulting in use of an alternate start codon, compared to variant 1. The resulting isoform (3) contains a shorter and distinct N-terminus compared to isoform 1. Variants 3, 4, 11, and 12 all encode the same isoform (3).
      Source sequence(s)
      AC002472
      Conserved Domains (1) summary
      cl02993
      Location:4223
      P2X_receptor; ATP P2X receptor
    3. NM_001349875.2NP_001336804.1  P2X purinoceptor 6 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks a portion of the 5' coding region, resulting in use of an alternate start codon, compared to variant 1. The resulting isoform (3) contains a shorter and distinct N-terminus compared to isoform 1. Variants 3, 4, 11, and 12 all encode the same isoform (3).
      Source sequence(s)
      AC002472
      Conserved Domains (1) summary
      cl02993
      Location:4223
      P2X_receptor; ATP P2X receptor
    4. NM_001349876.2NP_001336805.1  P2X purinoceptor 6 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has multiple differences, compared to variant 1. These differences result in a longer 5' UTR, cause translation initiation at an alternate start codon, result in a translational frameshift, and a shorter 3' UTR, compared to variant 1. The resulting isoform (4) is shorter and has distinct N- and C-termini, compared to isoform 1.
      Source sequence(s)
      AC002472
      Conserved Domains (1) summary
      cl02993
      Location:4109
      P2X_receptor; ATP P2X receptor
    5. NM_001394691.1NP_001381620.1  P2X purinoceptor 6 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC002472
      Conserved Domains (1) summary
      cl02993
      Location:11260
      P2X_receptor; ATP P2X receptor
    6. NM_001394692.1NP_001381621.1  P2X purinoceptor 6 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC002472
      Conserved Domains (1) summary
      TIGR00863
      Location:11352
      P2X; cation transporter protein
    7. NM_001394693.1NP_001381622.1  P2X purinoceptor 6 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC002472
      Conserved Domains (1) summary
      TIGR00863
      Location:11350
      P2X; cation transporter protein
    8. NM_001394694.1NP_001381623.1  P2X purinoceptor 6 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC002472
      Conserved Domains (1) summary
      cl02993
      Location:11324
      P2X_receptor; ATP P2X receptor
    9. NM_001394695.1NP_001381624.1  P2X purinoceptor 6 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC002472
      Conserved Domains (1) summary
      cl02993
      Location:11325
      P2X_receptor; ATP P2X receptor
    10. NM_001394696.1NP_001381625.1  P2X purinoceptor 6 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11), as well as variants 3, 4, and 12, encodes isoform 3.
      Source sequence(s)
      AC002472
      Conserved Domains (1) summary
      cl02993
      Location:4223
      P2X_receptor; ATP P2X receptor
    11. NM_001394697.1NP_001381626.1  P2X purinoceptor 6 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12), as well as variants 3, 4, and 11, encodes isoform 3.
      Source sequence(s)
      AC002472
      Conserved Domains (1) summary
      cl02993
      Location:4223
      P2X_receptor; ATP P2X receptor
    12. NM_005446.5NP_005437.2  P2X purinoceptor 6 isoform 1

      See identical proteins and their annotated locations for NP_005437.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform (1).
      Source sequence(s)
      AC002472
      Consensus CDS
      CCDS13788.2
      UniProtKB/Swiss-Prot
      O15547
      Related
      ENSP00000416193.2, ENST00000413302.6
      Conserved Domains (1) summary
      TIGR00863
      Location:11374
      P2X; cation transporter protein

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

      Range
      21009699..21028013
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029075.1XP_016884564.1  P2X purinoceptor 6 isoform X11

      Conserved Domains (1) summary
      cl02993
      Location:4223
      P2X_receptor; ATP P2X receptor
    2. XM_011530499.2XP_011528801.1  P2X purinoceptor 6 isoform X2

      Conserved Domains (1) summary
      cl02993
      Location:11306
      P2X_receptor; ATP P2X receptor
    3. XM_011530498.2XP_011528800.1  P2X purinoceptor 6 isoform X1

      Conserved Domains (1) summary
      TIGR00863
      Location:11330
      P2X; cation transporter protein
    4. XM_017029066.1XP_016884555.1  P2X purinoceptor 6 isoform X5

    5. XM_011530500.2XP_011528802.1  P2X purinoceptor 6 isoform X3

      Conserved Domains (1) summary
      cl02993
      Location:11304
      P2X_receptor; ATP P2X receptor
    6. XM_011530502.2XP_011528804.1  P2X purinoceptor 6 isoform X10

      Conserved Domains (1) summary
      cl02993
      Location:11260
      P2X_receptor; ATP P2X receptor
    7. XM_017029068.1XP_016884557.1  P2X purinoceptor 6 isoform X7

    8. XM_017029070.1XP_016884559.1  P2X purinoceptor 6 isoform X9

      Conserved Domains (1) summary
      cl02993
      Location:4179
      P2X_receptor; ATP P2X receptor
    9. XM_011530501.2XP_011528803.1  P2X purinoceptor 6 isoform X9

      Conserved Domains (1) summary
      cl02993
      Location:4179
      P2X_receptor; ATP P2X receptor
    10. XM_017029074.1XP_016884563.1  P2X purinoceptor 6 isoform X11

      Conserved Domains (1) summary
      cl02993
      Location:4223
      P2X_receptor; ATP P2X receptor

    RNA

    1. XR_937950.2 RNA Sequence

    2. XR_937953.3 RNA Sequence

    3. XR_937952.2 RNA Sequence

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