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P2RX4 purinergic receptor P2X 4 [ Homo sapiens (human) ]

Gene ID: 5025, updated on 5-Mar-2024

Summary

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Official Symbol
P2RX4provided by HGNC
Official Full Name
purinergic receptor P2X 4provided by HGNC
Primary source
HGNC:HGNC:8535
See related
Ensembl:ENSG00000135124 MIM:600846; AllianceGenome:HGNC:8535
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
P2X4; P2X4R
Summary
The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel with high calcium permeability. The main pharmacological distinction between the members of the purinoceptor family is the relative sensitivity to the antagonists suramin and PPADS. The product of this gene has the lowest sensitivity for these antagonists. Multiple alternatively spliced transcript variants, some protein-coding and some not protein-coding, have been found for this gene. [provided by RefSeq, Feb 2012]
Expression
Ubiquitous expression in placenta (RPKM 18.6), colon (RPKM 15.4) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
12q24.31
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (121210129..121234106)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (121200899..121224872)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (121647932..121671909)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370030 Neighboring gene uncharacterized LOC105370032 Neighboring gene Sharpr-MPRA regulatory region 4268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7157 Neighboring gene NANOG hESC enhancer GRCh37_chr12:121593595-121594096 Neighboring gene purinergic receptor P2X 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:121627731-121628231 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4970 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7158 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:121661200-121661700 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7159 Neighboring gene Sharpr-MPRA regulatory region 10951 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:121671545-121672172 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4971 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:121683587-121683800 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7161 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:121693396-121693896 Neighboring gene calcium/calmodulin dependent protein kinase kinase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:121720271-121720878 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:121720879-121721486 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4972 Neighboring gene anaphase promoting complex subunit 5 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:121773208-121773399 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:121789289-121789964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7162 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:121790641-121791316 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:121791317-121791990

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
  • 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. Activation of P2X4 receptor exacerbates acute brain injury after intracerebral hemorrhage. Wu ST, et al. CNS Neurosci Ther, 2022 Jul. PMID 35352488, Free PMC Article
  2. Lysosome purinergic receptor P2X4 regulates neoangiogenesis induced by microvesicles from sarcoma patients. Palinski W, et al. Cell Death Dis, 2021 Aug 17. PMID 34404763, Free PMC Article
  3. New Insights of the Zn(II)-Induced P2 × 4R Positive Allosteric Modulation: Role of Head Receptor Domain SS2/SS3, E160 and D170. Peralta FA, et al. Int J Mol Sci, 2020 Sep 22. PMID 32971737, Free PMC Article
  4. Resolving the Ionotropic P2X4 Receptor Mystery Points Towards a New Therapeutic Target for Cardiovascular Diseases. Bragança B, et al. Int J Mol Sci, 2020 Jul 15. PMID 32679900, Free PMC Article
  5. P2X4R silence suppresses glioma cell growth through BDNF/TrkB/ATF4 signaling pathway. Huo JF, et al. J Cell Biochem, 2019 Apr. PMID 30362154

See all (98) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Expression in skin biopsies supports genetic evidence linking CAMKK2, P2X7R and P2X4R with HIV-associated sensory neuropathy.
    Title: Expression in skin biopsies supports genetic evidence linking CAMKK2, P2X7R and P2X4R with HIV-associated sensory neuropathy.
  2. Colon tumour cell death causes mTOR dependence by paracrine P2X4 stimulation.
    Title: Colon tumour cell death causes mTOR dependence by paracrine P2X4 stimulation.
  3. Blocking P2X purinoceptor 4 signalling alleviates cigarette smoke induced pulmonary inflammation.
    Title: Blocking P2X purinoceptor 4 signalling alleviates cigarette smoke induced pulmonary inflammation.
  4. Activation of P2X4 receptor exacerbates acute brain injury after intracerebral hemorrhage.
    Title: Activation of P2X4 receptor exacerbates acute brain injury after intracerebral hemorrhage.
  5. Lysosome purinergic receptor P2X4 regulates neoangiogenesis induced by microvesicles from sarcoma patients.
    Title: Lysosome purinergic receptor P2X4 regulates neoangiogenesis induced by microvesicles from sarcoma patients.
  6. [Elucidation of Mast Cell Activation Mechanism Mediated by Purinergic Signaling].
    Title: [Elucidation of Mast Cell Activation Mechanism Mediated by Purinergic Signaling].
  7. P2X4 Receptors Mediate Ca(2+) Release from Lysosomes in Response to Stimulation of P2X7 and H1 Histamine Receptors.
    Title: P2X4 Receptors Mediate Ca(2+) Release from Lysosomes in Response to Stimulation of P2X7 and H(1) Histamine Receptors.
  8. Immunohistochemical evidence of P2X7R, P2X4R and CaMKK2 in pyramidal neurons of frontal cortex does not align with Alzheimer's disease.
    Title: Immunohistochemical evidence of P2X7R, P2X4R and CaMKK2 in pyramidal neurons of frontal cortex does not align with Alzheimer's disease.
  9. Functional expression of P2X1, P2X4 and P2X7 purinergic receptors in human monocyte-derived macrophages.
    Title: Functional expression of P2X1, P2X4 and P2X7 purinergic receptors in human monocyte-derived macrophages.
  10. New Insights of the Zn(II)-Induced P2 x 4R Positive Allosteric Modulation: Role of Head Receptor Domain SS2/SS3, E160 and D170.
    Title: New Insights of the Zn(II)-Induced P2 × 4R Positive Allosteric Modulation: Role of Head Receptor Domain SS2/SS3, E160 and D170.
Submit: New GeneRIF Correction See all GeneRIFs (69)

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

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IC
Inferred by Curator
more info
 PubMed 
enables cadherin binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables copper ion binding ISS
Inferred from Sequence or Structural Similarity
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 IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ligand-gated calcium channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables ligand-gated calcium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables purinergic nucleotide receptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables purinergic nucleotide receptor activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables signaling receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
enables zinc ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
Process Evidence Code Pubs
involved_in apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in behavioral response to pain ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in calcium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in calcium ion transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in calcium-mediated signaling TAS
Traceable Author Statement
more info
 PubMed 
involved_in cellular response to ATP IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular response to zinc ion ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in endothelial cell activation TAS
Traceable Author Statement
more info
 PubMed 
involved_in excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
  
involved_in membrane depolarization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in monoatomic ion transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of cardiac muscle hypertrophy IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in neuronal action potential IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of blood vessel endothelial cell migration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of calcium ion transport NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of calcium ion transport into cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of calcium ion transport into cytosol IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of calcium-mediated signaling IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of calcium-mediated signaling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of endothelial cell chemotaxis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of microglial cell migration ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of microglial cell migration TAS
Traceable Author Statement
more info
 PubMed 
involved_in positive regulation of nitric oxide biosynthetic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of prostaglandin secretion NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in purinergic nucleotide receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of blood pressure IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of cardiac muscle contraction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of chemotaxis ISS
Inferred from Sequence or Structural Similarity
more info
  
NOT involved_in regulation of ruffle assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of sodium ion transport ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in relaxation of cardiac muscle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in response to ATP IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in response to axon injury ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in response to fluid shear stress IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in response to ischemia ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in sensory perception of pain ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in sensory perception of touch ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in signal transduction IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in tissue homeostasis NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cell body ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cell junction IDA
Inferred from Direct Assay
more info
 PubMed 
located_in dendritic spine IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular exosome HDA PubMed 
located_in lysosomal membrane HDA PubMed 
located_in lysosomal membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane HDA PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in neuronal cell body IEA
Inferred from Electronic Annotation
more info
  
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IC
Inferred by Curator
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 PubMed 
located_in terminal bouton IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
P2X purinoceptor 4
Names
ATP receptor
ATP-gated cation channel protein
P2X receptor, subunit 4
purinergic receptor P2X, ligand gated ion channel, 4
purinergic receptor P2X4
purinoceptor P2X4

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_001256796.2 → NP_001243725.1  P2X purinoceptor 4 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC069209, BX402887, U83993
    Consensus CDS
    CCDS58282.1
    UniProtKB/TrEMBL
    B7Z6W8
    Related
    ENSP00000353032.7, ENST00000359949.11
    Conserved Domains (1) summary
    pfam00864
    Location:13 → 397
    P2X_receptor; ATP P2X receptor

  2. NM_001261397.2 → NP_001248326.1  P2X purinoceptor 4 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an in-frame exon in the 5' coding region and an in-frame segment in the central coding region, compared to variant 1. The resulting isoform (3) lacks two internal segments, compared to isoform 1.
    Source sequence(s)
    AC069209, BC033826, BT019739
    UniProtKB/TrEMBL
    B7Z6W8
    Related
    ENSP00000438329.1, ENST00000542067.5
    Conserved Domains (1) summary
    pfam00864
    Location:13 → 354
    P2X_receptor; ATP P2X receptor

  3. NM_001261398.2 → NP_001248327.1  P2X purinoceptor 4 isoform 4

    See identical proteins and their annotated locations for NP_001248327.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an in-frame exon in the 5' coding region and a segment in the 3' region, compared to variant 1. The resulting isoform (4) lacks an internal segment and has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC069209, AK225604
    UniProtKB/TrEMBL
    B7Z6W8
    Conserved Domains (1) summary
    pfam00864
    Location:13 → 334
    P2X_receptor; ATP P2X receptor

  4. NM_002560.3 → NP_002551.2  P2X purinoceptor 4 isoform 2

    See identical proteins and their annotated locations for NP_002551.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AC069209
    Consensus CDS
    CCDS9214.1
    UniProtKB/Swiss-Prot
    E7EPF7, F6RU17, O00450, O14722, Q5U089, Q5U090, Q8N4N1, Q99571, Q9UBG9
    UniProtKB/TrEMBL
    B7Z6W8
    Related
    ENSP00000336607.4, ENST00000337233.9
    Conserved Domains (1) summary
    pfam00864
    Location:13 → 381
    P2X_receptor; ATP P2X receptor

RNA

  1. NR_046372.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an exon in the 5' region and contains an additional exon in the central region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK308549, U83993

  2. NR_046373.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK297704, U83993
    Related
    ENST00000543984.5

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    121210129..121234106
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538416.3 → XP_011536718.1  P2X purinoceptor 4 isoform X2

    Conserved Domains (1) summary
    pfam00864
    Location:13 → 251
    P2X_receptor; ATP P2X receptor

  2. XM_047428910.1 → XP_047284866.1  P2X purinoceptor 4 isoform X1

  3. XM_047428911.1 → XP_047284867.1  P2X purinoceptor 4 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    121200899..121224872
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054372138.1 → XP_054228113.1  P2X purinoceptor 4 isoform X2

  2. XM_054372137.1 → XP_054228112.1  P2X purinoceptor 4 isoform X1

  3. XM_054372139.1 → XP_054228114.1  P2X purinoceptor 4 isoform X3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_175567.1: Suppressed sequence

    Description
    NM_175567.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

  2. NM_175568.1: Suppressed sequence

    Description
    NM_175568.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99571.2 GenPept UniProtKB/Swiss-Prot:Q99571

Gene LinkOut

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