P2RX2 purinergic receptor P2X 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: P2RX2provided by HGNC
Official Full Name: purinergic receptor P2X 2provided by HGNC
Primary source: HGNC:HGNC:15459
See related: Ensembl:ENSG00000187848 MIM:600844; AllianceGenome:HGNC:15459
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: P2X2; DFNA41
Summary: The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Aug 2013]
Expression: Biased expression in prostate (RPKM 1.9), spleen (RPKM 0.8) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q24.33

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (132618776..132622388)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (132668996..132672547)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (133195362..133198974)

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 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?

Identification of Calcium Channel-Related Gene P2RX2 for Prognosis and Immune Infiltration in Prostate Cancer.
Title: Identification of Calcium Channel-Related Gene P2RX2 for Prognosis and Immune Infiltration in Prostate Cancer.
P2X2 receptor subunit interfaces are missense variant hotspots, where mutations tend to increase apparent ATP affinity.
Title: P2X2 receptor subunit interfaces are missense variant hotspots, where mutations tend to increase apparent ATP affinity.
Identification of a Novel Stop Loss Mutation in P2RX2 Gene in an Iranian Family with Autosomal Nonsyndromic Hearing Loss
Title: Identification of a Novel Stop Loss Mutation in P2RX2 Gene in an Iranian Family with Autosomal Nonsyndromic Hearing Loss.
Generation and characterization of a P2rx2 V60L mouse model for DFNA41.
Title: Generation and characterization of a P2rx2 V60L mouse model for DFNA41.
Increased P2x2 receptors induced by amyloid-beta peptide participates in the neurotoxicity in alzheimer's disease.
Title: Increased P2×2 receptors induced by amyloid-β peptide participates in the neurotoxicity in alzheimer's disease.
Progressive Dominant Hearing Loss (Autosomal Dominant Deafness-41) and P2RX2 Gene Mutations: A Phenotype-Genotype Study.
Title: Progressive Dominant Hearing Loss (Autosomal Dominant Deafness-41) and P2RX2 Gene Mutations: A Phenotype-Genotype Study.
Identification of a distinct desensitisation gate in the ATP-gated P2X2 receptor.
Title: Identification of a distinct desensitisation gate in the ATP-gated P2X2 receptor.
A study of 3 hearing loss mutations in hP2X2 receptors that found while D273Y results in nonfunctional channels, V60L and G353R are conductive channels with diminished response to ATP, revealing the importance of full-strength activation of hP2X2 receptors in hearing protection.
Title: Hearing loss mutations alter the functional properties of human P2X2 receptor channels through distinct mechanisms.
identified P2RX2, KCNQ5, ERBB3 and SOCS3 to be associated with the progression of age-related hearing impairment
Title: Down-expression of P2RX2, KCNQ5, ERBB3 and SOCS3 through DNA hypermethylation in elderly women with presbycusis.
These findings indicate that the CaMKII-mediated GluA1 phosphorylation of S567 and S831 is critical for P2X2-mediated AMPAR internalization and ATP-driven synaptic depression.
Title: P2X-mediated AMPA receptor internalization and synaptic depression is controlled by two CaMKII phosphorylation sites on GluA1 in hippocampal neurons.

Submit: New GeneRIF Correction See all GeneRIFs (36)

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

Associated conditions

Description	Tests
Autosomal dominant nonsyndromic hearing loss 41 MedGen: C1842371 OMIM: 608224 GeneReviews: Not available	not available

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:482656

P2RX2_8004 (e-PCR)
- UniSTS:467815

G16012 (e-PCR)
- UniSTS:26845

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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 identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ligand-gated monoatomic ion channel activity	TAS Traceable Author Statement 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 detection of hypoxic conditions in blood by carotid body chemoreceptor signaling	IEA Inferred from Electronic Annotation more info
involved_in excitatory postsynaptic potential	IEA Inferred from Electronic Annotation more info
involved_in neuromuscular junction development	IEA Inferred from Electronic Annotation more info
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 purinergic nucleotide receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in response to ATP	IEA Inferred from Electronic Annotation more info
involved_in response to carbohydrate	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to ischemia	ISS Inferred from Sequence or Structural Similarity more info
involved_in sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sensory perception of taste	IEA Inferred from Electronic Annotation more info
involved_in skeletal muscle fiber development	IEA Inferred from Electronic Annotation more info
involved_in urinary bladder smooth muscle contraction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	ISS Inferred from Sequence or Structural Similarity more info
located_in neuronal dense core vesicle	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	IDA Inferred from Direct Assay 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	IBA Inferred from Biological aspect of Ancestor 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 2

Names: ATP receptor; P2X Receptor, subunit 2; purinergic receptor P2X, ligand gated ion channel, 2

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.

Genomic

NG_033909.1 RefSeqGene

Range

4997..8609

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001282164.2 → NP_001269093.1 P2X purinoceptor 2 isoform J

Status: REVIEWED

Description

Transcript Variant: This variant (7) lacks three alternate in-frame segments in the 5' and 3' ends and two alternate segments in the middle compared to variant 4, that cause a frameshift. The resulting isoform (J) lacks three alternate segments and contains a different internal segment compared to isoform D.

Source sequence(s)

AC131212, AF190822, AF260426, AY346374, BC109200

Consensus CDS

CCDS61286.1

UniProtKB/Swiss-Prot

Q9UBL9

UniProtKB/TrEMBL

Q32MC3

Related

ENSP00000405531.2, ENST00000449132.6

Conserved Domains (1) summary

cl02993
Location:13 → 344

P2X_receptor; ATP P2X receptor
NM_001282165.2 → NP_001269094.1 P2X purinoceptor 2 isoform K

See identical proteins and their annotated locations for NP_001269094.1

Status: REVIEWED

Description

Transcript Variant: This variant (8) uses an alternate splice junction at the 3' end of an exon compared to variant 4, that causes a frameshift. The resulting isoform (K) has a shorter and distinct C-terminus compared to isoform D.

Source sequence(s)

AC131212, AF190822, AF260426, BC109200

Consensus CDS

CCDS73548.1

UniProtKB/TrEMBL

H0YGR7, Q32MC3

Related

ENSP00000444477.2, ENST00000542301.2

Conserved Domains (1) summary

cl02993
Location:13 → 332

P2X_receptor; ATP P2X receptor
NM_012226.5 → NP_036358.2 P2X purinoceptor 2 isoform I

See identical proteins and their annotated locations for NP_036358.2

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks an alternate in-frame segment in the 3' end and two alternate exons in the 5' end, that cause a frameshifts. The resulting isoform (I) has an alternate internal segment in the 5' end and and lacks an alternate in-frame segment in the 3' end compared to isoform D.

Source sequence(s)

AC131212, AF190822, AF260426, AF260429, BC109200

Consensus CDS

CCDS31934.1

UniProtKB/Swiss-Prot

Q9UBL9

UniProtKB/TrEMBL

Q32MC3

Related

ENSP00000341419.4, ENST00000352418.8

Conserved Domains (1) summary

cl02993
Location:13 → 306

P2X_receptor; ATP P2X receptor
NM_016318.4 → NP_057402.1 P2X purinoceptor 2 isoform C

See identical proteins and their annotated locations for NP_057402.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame segment in the 5' end and one in the 3' end compared to variant 4. The resulting isoform (C) has the same N- and C-termini but is shorter compared to isoform D.

Source sequence(s)

AC131212, AF190822, AF190824, AF260426, BC109200

Consensus CDS

CCDS31933.1

UniProtKB/Swiss-Prot

Q9UBL9

UniProtKB/TrEMBL

Q32MC3

Related

ENSP00000343904.5, ENST00000350048.9

Conserved Domains (1) summary

cl02993
Location:13 → 354

P2X_receptor; ATP P2X receptor
NM_170682.4 → NP_733782.1 P2X purinoceptor 2 isoform A

See identical proteins and their annotated locations for NP_733782.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) lacks an alternate in-frame segment in the 3' end compared to variant 4. The resulting isoform (A) has the same N- and C-termini but is shorter compared to isoform D.

Source sequence(s)

AC131212, AF190822, AF260426, BC109200

Consensus CDS

CCDS31931.1

UniProtKB/Swiss-Prot

A6NGB4, A6NH93, A6NHC2, A6NHU3, A6NIG9, Q6V9R6, Q9NR37, Q9NR38, Q9UBL9, Q9UHD5, Q9UHD6, Q9UHD7, Q9Y637, Q9Y638

Related

ENSP00000494644.1, ENST00000643471.2

Conserved Domains (1) summary

TIGR00863
Location:13 → 378

P2X; cation transporter protein
NM_170683.4 → NP_733783.1 P2X purinoceptor 2 isoform D

See identical proteins and their annotated locations for NP_733783.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) encodes the longest isoform (D).

Source sequence(s)

AC131212, AF190822, AF190825, AF260426, BC109200

Consensus CDS

CCDS31930.1

UniProtKB/Swiss-Prot

Q9UBL9

UniProtKB/TrEMBL

Q32MC3

Related

ENSP00000343339.4, ENST00000343948.8

Conserved Domains (1) summary

TIGR00863
Location:13 → 404

P2X; cation transporter protein
NM_174872.3 → NP_777361.1 P2X purinoceptor 2 isoform H

See identical proteins and their annotated locations for NP_777361.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks an alternate in-frame segment in the 5' UTR and one in the 3' UTR compared to variant 4. The resulting isoform (H) has the same N- and C-termini but is shorter compared to isoform D.

Source sequence(s)

AC131212, AF190822, AF260426, AF260428, BC109200

Consensus CDS

CCDS31935.1

UniProtKB/Swiss-Prot

Q9UBL9

UniProtKB/TrEMBL

Q32MC3

Related

ENSP00000344502.4, ENST00000351222.8

Conserved Domains (1) summary

cl02993
Location:36 → 286

P2X_receptor; ATP P2X receptor
NM_174873.3 → NP_777362.1 P2X purinoceptor 2 isoform B

See identical proteins and their annotated locations for NP_777362.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks two alternate in-frame segments in the 3' end compared to variant 4. The resulting isoform (B) has the same N- and C-termini but is shorter compared to isoform D.

Source sequence(s)

AC131212, AF190822, AF190823, AF260426, BC109200

Consensus CDS

CCDS31932.1

UniProtKB/Swiss-Prot

Q9UBL9

UniProtKB/TrEMBL

Q32MC3

Related

ENSP00000345095.5, ENST00000348800.9

Conserved Domains (1) summary

TIGR00863
Location:13 → 378

P2X; cation transporter protein

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

132618776..132622388

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005266154.5 → XP_005266211.1 P2X purinoceptor 2 isoform X1

Conserved Domains (1) summary

TIGR00863
Location:13 → 419

P2X; cation transporter protein
XM_005266156.6 → XP_005266213.1 P2X purinoceptor 2 isoform X5

Conserved Domains (1) summary

TIGR00863
Location:13 → 404

P2X; cation transporter protein
XM_005266155.6 → XP_005266212.1 P2X purinoceptor 2 isoform X2

Conserved Domains (1) summary

TIGR00863
Location:13 → 404

P2X; cation transporter protein
XM_017019035.3 → XP_016874524.1 P2X purinoceptor 2 isoform X4
XM_011534786.4 → XP_011533088.1 P2X purinoceptor 2 isoform X3

Conserved Domains (1) summary

cl02993
Location:13 → 380

P2X_receptor; ATP P2X receptor