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

    Gene ID: 9127, updated on 2-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:8538
    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
    mouse all
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    Genomic context

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    See P2RX6 in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (21009799..21028008)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (21423939..21436767)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (21369454..21382297)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13504 Neighboring gene leucine zipper like post translational regulator 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:21353453-21354008 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18694 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13505 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13506 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:21357012-21357402 Neighboring gene THAP7 antisense RNA 1 Neighboring gene THAP domain containing 7 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:21363733-21363878 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:21364621-21365436 Neighboring gene tubulin alpha 3f pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18695 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:21386396-21386906 Neighboring gene solute carrier family 7 member 4 Neighboring gene microRNA 649

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Cloning of P2XM, a novel human P2X receptor gene regulated by p53. Urano T, et al. Cancer Res, 1997 Aug 1. PMID 9242461
    2. International union of pharmacology. XXIV. Current status of the nomenclature and properties of P2X receptors and their subunits. Khakh BS, et al. Pharmacol Rev, 2001 Mar. PMID 11171941
    3. Cloning and tissue distribution of a novel P2X receptor from rat brain. Soto F, et al. Biochem Biophys Res Commun, 1996 Jun 14. PMID 8670303
    4. ATP binding site mutagenesis reveals different subunit stoichiometry of functional P2X2/3 and P2X2/6 receptors. Hausmann R, et al. J Biol Chem, 2012 Apr 20. PMID 22378790, Free PMC Article
    5. Ambulatory blood pressure is associated with polymorphic variation in P2X receptor genes. Palomino-Doza J, et al. Hypertension, 2008 Nov. PMID 18852390

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. one subunit of P2X2 and two subunits of P2X3 form P2X2/3 heteromeric receptors, whereas two subunits of P2X2 and one subunit of P2X6 constitute P2X2/6 receptors
      Title: ATP binding site mutagenesis reveals different subunit stoichiometry of functional P2X2/3 and P2X2/6 receptors.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
    3. Results show that P2X4 and P2X6 receptors are associated with VE-cadherin at HUVEC adherens junctions.
      Title: P2X4 and P2X6 receptors associate with VE-cadherin in human endothelial cells.
    4. P2X(2) receptors are trimers, whereas the P2X(6) receptor subunits do not form stable oligomers
      Title: Atomic force microscopy imaging demonstrates that P2X2 receptors are trimers but that P2X6 receptor subunits do not oligomerize.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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 monoatomic cation channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables extracellularly ATP-gated monoatomic 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 calcium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    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
    is_active_in cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    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
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in postsynaptic specialization membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of receptor complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    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)

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    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_001159554.2 → NP_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/TrEMBL
      C9JQN0, Q05BG9
      Related
      ENSP00000385309.1, ENST00000401443.5
      Conserved Domains (1) summary
      TIGR00863
      Location:11 → 348
      P2X; cation transporter protein

    2. NM_001349874.2 → NP_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:4 → 223
      P2X_receptor; ATP P2X receptor

    3. NM_001349875.2 → NP_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:4 → 223
      P2X_receptor; ATP P2X receptor

    4. NM_001349876.2 → NP_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:4 → 109
      P2X_receptor; ATP P2X receptor

    5. NM_001394691.1 → NP_001381620.1  P2X purinoceptor 6 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC002472
      Conserved Domains (1) summary
      cl02993
      Location:11 → 260
      P2X_receptor; ATP P2X receptor

    6. NM_001394692.1 → NP_001381621.1  P2X purinoceptor 6 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC002472
      UniProtKB/TrEMBL
      C9JQN0, Q05BG9
      Conserved Domains (1) summary
      TIGR00863
      Location:11 → 352
      P2X; cation transporter protein

    7. NM_001394693.1 → NP_001381622.1  P2X purinoceptor 6 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC002472
      UniProtKB/TrEMBL
      C9JQN0, Q05BG9
      Conserved Domains (1) summary
      TIGR00863
      Location:11 → 350
      P2X; cation transporter protein

    8. NM_001394694.1 → NP_001381623.1  P2X purinoceptor 6 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC002472
      UniProtKB/TrEMBL
      C9JQN0, Q05BG9
      Conserved Domains (1) summary
      cl02993
      Location:11 → 324
      P2X_receptor; ATP P2X receptor

    9. NM_001394695.1 → NP_001381624.1  P2X purinoceptor 6 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC002472
      UniProtKB/TrEMBL
      C9JQN0, Q05BG9
      Conserved Domains (1) summary
      cl02993
      Location:11 → 325
      P2X_receptor; ATP P2X receptor

    10. NM_001394696.1 → NP_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:4 → 223
      P2X_receptor; ATP P2X receptor

    11. NM_001394697.1 → NP_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:4 → 223
      P2X_receptor; ATP P2X receptor

    12. NM_005446.5 → NP_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
      F6V3D7, O15547, Q32MB6, Q58F04, Q6IC33, Q9UL50
      UniProtKB/TrEMBL
      C9JQN0, Q05BG9
      Related
      ENSP00000416193.2, ENST00000413302.7
      Conserved Domains (1) summary
      TIGR00863
      Location:11 → 374
      P2X; cation transporter protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      21009799..21028008
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029075.2 → XP_016884564.1  P2X purinoceptor 6 isoform X11

      Conserved Domains (1) summary
      cl02993
      Location:4 → 223
      P2X_receptor; ATP P2X receptor

    2. XM_011530498.3 → XP_011528800.1  P2X purinoceptor 6 isoform X1

      Conserved Domains (1) summary
      TIGR00863
      Location:11 → 330
      P2X; cation transporter protein

    3. XM_017029068.2 → XP_016884557.1  P2X purinoceptor 6 isoform X7

      UniProtKB/TrEMBL
      C9JQN0, Q05BG9

    4. XM_017029066.2 → XP_016884555.1  P2X purinoceptor 6 isoform X6

    5. XM_011530499.3 → XP_011528801.1  P2X purinoceptor 6 isoform X2

      Conserved Domains (1) summary
      cl02993
      Location:11 → 306
      P2X_receptor; ATP P2X receptor

    6. XM_047441590.1 → XP_047297546.1  P2X purinoceptor 6 isoform X9

    7. XM_047441587.1 → XP_047297543.1  P2X purinoceptor 6 isoform X4

    8. XM_011530500.3 → XP_011528802.1  P2X purinoceptor 6 isoform X3

      Conserved Domains (1) summary
      cl02993
      Location:11 → 304
      P2X_receptor; ATP P2X receptor

    9. XM_047441588.1 → XP_047297544.1  P2X purinoceptor 6 isoform X5

    10. XM_011530502.3 → XP_011528804.1  P2X purinoceptor 6 isoform X10

      Conserved Domains (1) summary
      cl02993
      Location:11 → 260
      P2X_receptor; ATP P2X receptor

    11. XM_017029074.2 → XP_016884563.1  P2X purinoceptor 6 isoform X11

      Conserved Domains (1) summary
      cl02993
      Location:4 → 223
      P2X_receptor; ATP P2X receptor

    12. XM_047441591.1 → XP_047297547.1  P2X purinoceptor 6 isoform X11

    13. XM_047441589.1 → XP_047297545.1  P2X purinoceptor 6 isoform X8

    RNA

    1. XR_937950.3 RNA Sequence

    2. XR_937952.3 RNA Sequence

      Related
      ENST00000432930.5

    3. XR_007067990.1 RNA Sequence

    4. XR_007067991.1 RNA Sequence

      Related
      ENST00000422210.5

    5. XR_007067992.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      21423939..21436767
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326111.1 → XP_054182086.1  P2X purinoceptor 6 isoform X1

    2. XM_054326117.1 → XP_054182092.1  P2X purinoceptor 6 isoform X7

    3. XM_054326116.1 → XP_054182091.1  P2X purinoceptor 6 isoform X6

    4. XM_054326112.1 → XP_054182087.1  P2X purinoceptor 6 isoform X2

    5. XM_054326119.1 → XP_054182094.1  P2X purinoceptor 6 isoform X9

    6. XM_054326114.1 → XP_054182089.1  P2X purinoceptor 6 isoform X4

    7. XM_054326113.1 → XP_054182088.1  P2X purinoceptor 6 isoform X3

    8. XM_054326115.1 → XP_054182090.1  P2X purinoceptor 6 isoform X5

    9. XM_054326120.1 → XP_054182095.1  P2X purinoceptor 6 isoform X10

    10. XM_054326121.1 → XP_054182096.1  P2X purinoceptor 6 isoform X11

    11. XM_054326118.1 → XP_054182093.1  P2X purinoceptor 6 isoform X8

    RNA

    1. XR_008485430.1 RNA Sequence

    2. XR_008485432.1 RNA Sequence

    3. XR_008485431.1 RNA Sequence

    4. XR_008485433.1 RNA Sequence

    5. XR_008485434.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O15547.2 GenPept UniProtKB/Swiss-Prot:O15547

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