P2RX3 purinergic receptor P2X 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: P2RX3provided by HGNC
Official Full Name: purinergic receptor P2X 3provided by HGNC
Primary source: HGNC:HGNC:8534
See related: Ensembl:ENSG00000109991 MIM:600843; AllianceGenome:HGNC:8534
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: P2X3
Summary: This gene encodes a member of the P2X purinergic receptor (purinoceptor) gene family which includes seven members (P2RX1 - P2RX7). P2X purinoceptors are a family of cation-permeable, ligand-gated ion channels that open in response to the binding of extracellular adenosine 5'-triphosphate (ATP). The encoded protein is a subunit of the trimeric P2X3 receptor ion channel which is expressed by sensory or autonomic neurons. A deficiency of the orthologous protein in mice is associated with reduced pain-related behavior and urinary bladder hyporeflexia. [provided by RefSeq, Aug 2017]
Expression: Biased expression in testis (RPKM 1.0), heart (RPKM 0.8) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q12.1

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (57335950..57372396)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (57285441..57321889)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (57105826..57139869)

Chromosome 11 - NC_000011.10 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The authors used structural, computational and functional approaches to show that a crucial acidic chamber near the nucleotide-binding pocket in human P2X3 receptors accommodates divalent ions in two distinct modes in the absence and presence of nucleotide.
Title: Molecular mechanisms of human P2X3 receptor channel activation and modulation by divalent cation bound ATP.
Druggable negative allosteric site of P2X3 receptors.
Title: Druggable negative allosteric site of P2X3 receptors.
conclude that the inter-subunit salt bridge between E112 and R198 of the head and dorsal fin domains, respectively, serves to control the mobility of these domains during agonist-activation of the hP2X3R
Title: Inter-subunit disulfide locking of the human P2X3 receptor elucidates ectodomain movements associated with channel gating.
P2X3 expressions in endometriosis endometrium and endometriotic lesions were significantly higher as compared with control endometrium, and positively correlated with pain.
Title: P2X3 receptor involvement in endometriosis pain via ERK signaling pathway.
P2X3 receptor expression was up-regulated in neurons from patients with temporal lobe epilepsy.
Title: Upregulated P2X3 Receptor Expression in Patients with Intractable Temporal Lobe Epilepsy and in a Rat Model of Epilepsy.
X-ray crystal structures of the human P2X3 receptor in apo/resting, agonist-bound/open-pore, agonist-bound/closed-pore/desensitized and antagonist-bound/closed states
Title: X-ray structures define human P2X(3) receptor gating cycle and antagonist action.
there is a relationship between the elevated expression of P2X3 receptor and P2X7 receptor in peripheral blood leukocytes and high serum epinephrine and norepinephrine levels in hyperthyroidism patients.
Title: Potential Involvement of P2 Receptors in the Pathological Processes of Hyperthyroidism: A Pilot Study.
Data show that monoclonal antibodies directed against human P2X3 (12D4) potentiated the slow inactivating current mediated by the heteromeric purinergic receptor hP2X2/3 channel.
Title: Modulation of P2X3 and P2X2/3 Receptors by Monoclonal Antibodies.
Data indicate P2X3 purinergic receptors as potential new targets for hepatocellular carcinoma (HCC) therapy.
Title: P2X3 purinergic receptor overexpression is associated with poor recurrence-free survival in hepatocellular carcinoma patients.
Results demonstrate that the stoichiometry of the heterotrimeric hP2X2/3 receptor is not fixed, but determined by the relative availability of P2X2 and P2X3 subunits
Title: Flexible subunit stoichiometry of functional human P2X2/3 heteromeric receptors.

Submit: New GeneRIF Correction See all GeneRIFs (38)

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

NoName (e-PCR)
- UniSTS:480548

NoName (e-PCR)
- UniSTS:481922

D11S3743 (e-PCR)
- UniSTS:152973

D11S2735 (e-PCR)
- UniSTS:151951

D11S4401 (e-PCR)
- UniSTS:72945

NoName (e-PCR)
- UniSTS:489726

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
enables ATP binding	NAS Non-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	IDA Inferred from Direct Assay more info	PubMed
enables extracellularly ATP-gated monoatomic cation channel activity	NAS Non-traceable Author Statement more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables purinergic nucleotide receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables purinergic nucleotide receptor activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in behavioral response to pain	IEA Inferred from Electronic Annotation 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 cellular response to ATP	IDA Inferred from Direct Assay more info	PubMed
involved_in establishment of localization in cell	IEA Inferred from Electronic Annotation more info
involved_in excitatory postsynaptic potential	IEA Inferred from Electronic Annotation more info
involved_in inorganic cation transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in neuromuscular synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in peristalsis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of calcium ion transport into cytosol	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of calcium-mediated signaling	NAS Non-traceable Author Statement more info	PubMed
involved_in protein homotrimerization	IDA Inferred from Direct Assay more info	PubMed
involved_in purinergic nucleotide receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in regulation of synaptic plasticity	IEA Inferred from Electronic Annotation more info
involved_in response to carbohydrate	IEA Inferred from Electronic Annotation more info
involved_in response to cold	IEA Inferred from Electronic Annotation more info
involved_in response to heat	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to mechanical stimulus	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of taste	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in urinary bladder smooth muscle contraction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Schaffer collateral - CA1 synapse	IEA Inferred from Electronic Annotation more info
located_in axon	IEA Inferred from Electronic Annotation more info
located_in hippocampal mossy fiber to CA3 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	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynapse	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 3

Names: ATP receptor; P2X receptor, subunit 3; purinergic receptor P2X, ligand gated ion channel, 3; purinergic receptor P2X3; purinoceptor P2X3

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_002559.5 → NP_002550.2 P2X purinoceptor 3

See identical proteins and their annotated locations for NP_002550.2

Status: REVIEWED

Source sequence(s)

AP000781, BC069162, BC074792, DB462670, HY032450

Consensus CDS

CCDS7953.1

UniProtKB/Swiss-Prot

P56373, Q6DK37, Q9UQB6

Related

ENSP00000263314.2, ENST00000263314.3

Conserved Domains (1) summary

pfam00864
Location:8 → 363

P2X_receptor; ATP P2X receptor

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_000011.10 Reference GRCh38.p14 Primary Assembly

Range

57335950..57372396

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011545070.3 → XP_011543372.1 P2X purinoceptor 3 isoform X1

See identical proteins and their annotated locations for XP_011543372.1

UniProtKB/Swiss-Prot

P56373, Q6DK37, Q9UQB6

Conserved Domains (1) summary

pfam00864
Location:8 → 363

P2X_receptor; ATP P2X receptor
XM_011545069.3 → XP_011543371.1 P2X purinoceptor 3 isoform X1

See identical proteins and their annotated locations for XP_011543371.1

UniProtKB/Swiss-Prot

P56373, Q6DK37, Q9UQB6

Conserved Domains (1) summary

pfam00864
Location:8 → 363

P2X_receptor; ATP P2X receptor
XM_011545072.3 → XP_011543374.1 P2X purinoceptor 3 isoform X3

Conserved Domains (1) summary

pfam00864
Location:1 → 289

P2X_receptor; ATP P2X receptor
XM_011545071.3 → XP_011543373.1 P2X purinoceptor 3 isoform X2

Conserved Domains (1) summary

pfam00864
Location:8 → 361

P2X_receptor; ATP P2X receptor
XM_011545073.2 → XP_011543375.1 P2X purinoceptor 3 isoform X4

Conserved Domains (1) summary

cl02993
Location:1 → 199

P2X_receptor; ATP P2X receptor