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

Gene ID: 5025, updated on 18-Sep-2024

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; 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

See P2RX4 in Genome Data Viewer
Location:
12q24.31
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (121210129..121234106)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (121200899..121224872)
RS_2024_09 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
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 parallel fiber to Purkinje cell synapse 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 postsynaptic density membrane IEA
Inferred from Electronic Annotation
more info
 
located_in 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)

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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_001256796.2NP_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:13397
    P2X_receptor; ATP P2X receptor
  2. NM_001261397.2NP_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:13354
    P2X_receptor; ATP P2X receptor
  3. NM_001261398.2NP_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:13334
    P2X_receptor; ATP P2X receptor
  4. NM_002560.3NP_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:13381
    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_2024_08

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_011538416.3XP_011536718.1  P2X purinoceptor 4 isoform X2

    Conserved Domains (1) summary
    pfam00864
    Location:13251
    P2X_receptor; ATP P2X receptor
  2. XM_047428910.1XP_047284866.1  P2X purinoceptor 4 isoform X1

  3. XM_047428911.1XP_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_054372138.1XP_054228113.1  P2X purinoceptor 4 isoform X2

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

  3. XM_054372139.1XP_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.