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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
P2RX2
purinergic receptor P2X 2
Chromosome 12 Β· 12q24.33
NCBI Gene: 22953Ensembl: ENSG00000187848.15HGNC: HGNC:15459UniProt: Q32MC3
53PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelReceptorTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
extracellularly ATP-gated monoatomic cation channel activityapical plasma membraneplasma membranesignaling receptor complexautosomal dominant nonsyndromic hearing lossdeafnessnonsyndromic genetic hearing lossNon-syndromic genetic deafness
✦AI Summary

P2RX2 encodes the P2X2 receptor, an ATP-gated nonselective cation channel permeable to potassium, sodium, and calcium 1. This purinergic receptor plays crucial roles in auditory function, mediating sound transduction, auditory neurotransmission, and outer hair cell electromotility in the inner ear 2. P2RX2 is essential for synaptic transmission between neurons and protects against noise-induced hearing damage 3. In the vestibular system, P2RX2 and P2RX4 receptors mediate cation absorption in transitional and supporting cells of the utricular macula, protecting hair cells during elevated stimulus intensity 4. Mutations in P2RX2 cause autosomal dominant deafness-41 (DFNA41), characterized by progressive sensorineural hearing loss with onset between ages 25-35 years 3. The p.V60L mutation has been identified in multiple families worldwide, causing early-onset progressive hearing loss and vestibular dysfunction 56. Mouse models demonstrate that P2RX2 is essential for ribbon synapse organization and acoustic information transfer 6. Importantly, genome editing approaches have shown promise for treating DFNA41, with successful restoration of auditory and vestibular function in mouse models 7. Beyond hearing, P2RX2 expression correlates with immune infiltration and prognosis in prostate cancer 8.

Sources cited
1
P2RX2 encodes an ATP-gated nonselective cation channel permeable to potassium, sodium, and calcium
PMID: 31636190
2
P2RX2 regulates sound transduction, auditory neurotransmission, and outer hair cell electromotility in the inner ear
PMID: 23345450
3
P2RX2 mutations cause DFNA41 with progressive hearing loss onset between ages 25-35 years and predisposition to noise-induced hearing loss
PMID: 31593348
4
P2RX2 and P2RX4 mediate cation absorption in utricular transitional and supporting cells, protecting hair cells
PMID: 31869657
5
The p.V60L mutation causes early-onset progressive hearing loss in affected families
PMID: 39258340
6
Mouse models show P2RX2 is essential for ribbon synapse organization and acoustic information transfer
PMID: 33791800
7
Genome editing successfully restores auditory and vestibular function in DFNA41 mouse models
PMID: 41090360
8
P2RX2 expression correlates with immune infiltration and prognosis in prostate cancer
PMID: 36246559
Disease Associationsβ“˜21
autosomal dominant nonsyndromic hearing lossOpen Targets
0.64Moderate
deafnessOpen Targets
0.59Moderate
Non-syndromic genetic deafnessOpen Targets
0.18Weak
nonsyndromic genetic hearing lossOpen Targets
0.18Weak
brain aneurysmOpen Targets
0.14Weak
Sensorineural hearing impairmentOpen Targets
0.12Weak
atrial fibrillationOpen Targets
0.10Weak
depressive disorderOpen Targets
0.08Suggestive
gastroesophageal reflux diseaseOpen Targets
0.07Suggestive
posterior cortical atrophyOpen Targets
0.06Suggestive
hepatocellular carcinomaOpen Targets
0.05Suggestive
head and neck squamous cell carcinomaOpen Targets
0.05Suggestive
spinocerebellar ataxia type 32Open Targets
0.05Suggestive
maturity-onset diabetes of the young type 3Open Targets
0.04Suggestive
MODYOpen Targets
0.04Suggestive
major depressive disorderOpen Targets
0.04Suggestive
Testicular regression syndromeOpen Targets
0.04Suggestive
lung cancerOpen Targets
0.04Suggestive
3-hydroxy-3-methylglutaryl-CoA synthase deficiencyOpen Targets
0.04Suggestive
exercise-induced hyperinsulinismOpen Targets
0.04Suggestive
Deafness, autosomal dominant, 41UniProt
Pathogenic Variants4
NM_170682.4(P2RX2):c.1057G>A (p.Gly353Arg)Pathogenic
not provided|Autosomal dominant nonsyndromic hearing loss 41
β˜…β˜…β˜†β˜†2025β†’ Residue 353
NM_170682.4(P2RX2):c.121dup (p.Leu41fs)Likely pathogenic
Autosomal dominant nonsyndromic hearing loss
β˜…β˜†β˜†β˜†2024β†’ Residue 41
NM_170682.4(P2RX2):c.1057G>C (p.Gly353Arg)Pathogenic
Autosomal dominant nonsyndromic hearing loss 41|not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 353
NM_170682.4(P2RX2):c.178G>T (p.Val60Leu)Pathogenic
Autosomal dominant nonsyndromic hearing loss 41
β˜†β˜†β˜†β˜†2013β†’ Residue 60
View on ClinVar β†—
Related Genes
P2RY2Protein interaction98%P2RY4Protein interaction98%P2RY6Protein interaction98%P2RY11Protein interaction98%P2RY14Protein interaction98%P2RY1Protein interaction91%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
55%
Brain
9%
Liver
5%
Ovary
5%
Heart
0%
Gene Interaction Network
Click a node to explore
P2RX2P2RY2P2RY4P2RY6P2RY11P2RY14P2RY1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q32MC3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.28LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.01 [0.80–1.28]
RankingsWhere P2RX2 stands among ~20K protein-coding genes
  • #8,471of 20,598
    Most Researched53
  • #3,791of 5,498
    Most Pathogenic Variants4
  • #13,449of 17,882
    Most Constrained (LOEUF)1.28
Genes detectedP2RX2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Progressive Dominant Hearing Loss (Autosomal Dominant Deafness-41) and P2RX2 Gene Mutations: A Phenotype-Genotype Study.
PMID: 31593348
Laryngoscope Β· 2020
1.00
2
Identification of Calcium Channel-Related Gene P2RX2 for Prognosis and Immune Infiltration in Prostate Cancer.
PMID: 36246559
Dis Markers Β· 2022
0.90
3
Single-dose genome editing therapy rescues auditory and vestibular functions in adult mice with DFNA41 deafness.
PMID: 41090360
J Clin Invest Β· 2025
0.80
4
P2RX2 and P2RX4 receptors mediate cation absorption in transitional cells and supporting cells of the utricular macula.
PMID: 31869657
Hear Res Β· 2020
0.70
5
Novel Clinical Manifestation and Favorable Treatment Outcome of Cochlear Implant in a Chinese Family With Likely Pathogenic Variant of the P2RX2 Gene.
PMID: 39258340
Am J Med Genet A Β· 2025
0.60