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

Gene ID: 5025, updated on 8-Dec-2018

Summary

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
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

Genomic context

See P2RX4 in Genome Data Viewer
Location:
12q24.31
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (121209861..121234106)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (121647664..121671909)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370030 Neighboring gene uncharacterized LOC105370032 Neighboring gene purinergic receptor P2X 7 Neighboring gene calcium/calmodulin dependent protein kinase kinase 2 Neighboring gene anaphase promoting complex subunit 5

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Calcium signaling pathway, organism-specific biosystem (from KEGG)
    Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
  • Calcium signaling pathway, conserved biosystem (from KEGG)
    Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
  • Elevation of cytosolic Ca2+ levels, organism-specific biosystem (from REACTOME)
    Elevation of cytosolic Ca2+ levels, organism-specific biosystemActivation of non- excitable cells involves the agonist-induced elevation of cytosolic Ca2+, an essential process for platelet activation. It occurs through Ca2+ release from intracellular stores and...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, organism-specific biosystem
    Neuroactive ligand-receptor interaction
  • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, conserved biosystem
    Neuroactive ligand-receptor interaction
  • Platelet calcium homeostasis, organism-specific biosystem (from REACTOME)
    Platelet calcium homeostasis, organism-specific biosystemCa2+ homeostasis is controlled by processes that elevate or counter the elevation of cytosolic Ca2+. During steady state conditions, cytoplasmic Ca2+ is reduced by the accumulation of Ca2+ in intrac...
  • Platelet homeostasis, organism-specific biosystem (from REACTOME)
    Platelet homeostasis, organism-specific biosystemUnder normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhesion and activation, suppresses coagulation, enhances fibrin cleavage and is anti-inflammatory in charact...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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)

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_001256796.1NP_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/Swiss-Prot
    Q99571
    Related
    ENSP00000353032.7, ENST00000359949.11
    Conserved Domains (1) summary
    pfam00864
    Location:13397
    P2X_receptor; ATP P2X receptor
  2. NM_001261397.1NP_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/Swiss-Prot
    Q99571
    Related
    ENSP00000438329.1, ENST00000542067.5
    Conserved Domains (1) summary
    pfam00864
    Location:13354
    P2X_receptor; ATP P2X receptor
  3. NM_001261398.1NP_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
    Related
    ENSP00000438131.2, ENST00000543171.5
    Conserved Domains (1) summary
    pfam00864
    Location:13334
    P2X_receptor; ATP P2X receptor
  4. NM_002560.2NP_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)
    U83993
    Consensus CDS
    CCDS9214.1
    UniProtKB/Swiss-Prot
    Q99571
    Related
    ENSP00000336607.4, ENST00000337233.8
    Conserved Domains (1) summary
    pfam00864
    Location:13381
    P2X_receptor; ATP P2X receptor

RNA

  1. NR_046372.1 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)
    AC069209, AK308549, U83993
  2. NR_046373.1 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)
    AC069209, AK297704, U83993
    Related
    ENST00000543984.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    121209861..121234106
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538416.2XP_011536718.1  P2X purinoceptor 4 isoform X1

    Conserved Domains (1) summary
    pfam00864
    Location:13251
    P2X_receptor; ATP P2X receptor

RNA

  1. XR_001748727.1 RNA Sequence

  2. XR_001748728.1 RNA Sequence

  3. XR_944559.2 RNA Sequence

  4. XR_001748729.2 RNA Sequence

  5. XR_001748726.2 RNA Sequence

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.
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