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

Gene ID: 9127, updated on 28-Oct-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
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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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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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