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

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: mouse all
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Genomic context

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

P2X7R and P2X4R expression of mice submandibular gland in high-fat diet/streptozotocin-induced type 2 diabetes.
Title: P2X7R and P2X4R expression of mice submandibular gland in high-fat diet/streptozotocin-induced type 2 diabetes.
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.
Colon tumour cell death causes mTOR dependence by paracrine P2X4 stimulation.
Title: Colon tumour cell death causes mTOR dependence by paracrine P2X4 stimulation.
Blocking P2X purinoceptor 4 signalling alleviates cigarette smoke induced pulmonary inflammation.
Title: Blocking P2X purinoceptor 4 signalling alleviates cigarette smoke induced pulmonary inflammation.
Activation of P2X4 receptor exacerbates acute brain injury after intracerebral hemorrhage.
Title: Activation of P2X4 receptor exacerbates acute brain injury after intracerebral hemorrhage.
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.
[Elucidation of Mast Cell Activation Mechanism Mediated by Purinergic Signaling].
Title: [Elucidation of Mast Cell Activation Mechanism Mediated by Purinergic Signaling].
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.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (70)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S275 (e-PCR)
- UniSTS:147992

PG4S0910 (e-PCR)
- UniSTS:465973

PG4S12 (e-PCR)
- UniSTS:465975

RH76377 (e-PCR)
- UniSTS:90727

D1S1425 (e-PCR)
- UniSTS:149621

STS-Y07684 (e-PCR)
- UniSTS:31643

A009Q17 (e-PCR)
- UniSTS:56769

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 more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in lysosomal membrane	HDA more info	PubMed
located_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	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

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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)

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
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
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
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

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
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

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

121210129..121234106

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (1) summary

pfam00864
Location:13 → 251

P2X_receptor; ATP P2X receptor
XM_047428910.1 → XP_047284866.1 P2X purinoceptor 4 isoform X1
XM_047428911.1 → XP_047284867.1 P2X purinoceptor 4 isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

121200899..121224872

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054372138.1 → XP_054228113.1 P2X purinoceptor 4 isoform X2
XM_054372137.1 → XP_054228112.1 P2X purinoceptor 4 isoform X1
XM_054372139.1 → XP_054228114.1 P2X purinoceptor 4 isoform X3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_175567.1: Suppressed sequence

Description

NM_175567.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
NM_175568.1: Suppressed sequence

Description

NM_175568.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.