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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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P2RX5
purinergic receptor P2X 5
Chromosome 17 · 17p13.2
NCBI Gene: 5026Ensembl: ENSG00000083454.24HGNC: HGNC:8536UniProt: Q93086
32PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelReceptorTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
chloride transportligand-gated monoatomic anion channel activityplasma membraneATP-gated ion channel activityParkinson diseaseneoplasmbreast cancercolorectal carcinoma
✦AI Summary

P2RX5 encodes a purinergic receptor belonging to the P2X family of ligand-gated cation channels that respond to extracellular ATP 1. In humans, P2RX5 exists as a natural deletion variant lacking amino acids 328-349 in the transmembrane region 2 1. The gene is upregulated during T cell activation and recruited to the cell surface, where it plays a functional role in immunoregulation—P2RX5-silenced CD4+ T cells produced twofold more IL-10 than controls 1. P2RX5 serves as a cell surface marker for brown and beige adipocytes in both mice and humans, distinguishing them from white adipocytes 2, suggesting potential applications in targeting adipose cell types therapeutically. Regarding disease relevance, P2RX5 mRNA expression is significantly increased in the dorsolateral prefrontal cortex of schizophrenia patients, correlating with inflammatory markers and suggesting association with neuroinflammation 3. Genome-wide association studies identify P2RX5 as a plausible gene for cell-type compositional shifts in neuropsychiatric disorders, particularly the neurovascular unit in Alzheimer's disease, autism, and schizophrenia 4. Additionally, P2RX5 is implicated in chordoma progression as a miRNA target gene 5, and variants in P2RX5 have been investigated in familial thyroid cancer, though their pathogenic significance remains unclear 6. Tissue-specific transcript usage of P2RX5 indicates distinct isoforms across different tissues 7.

Sources cited
1
P2RX5 is a truncation variant lacking amino acids 328-349; upregulated during T cell activation; functional role in immunoregulation
PMID: 25181038
2
P2RX5 is a cell surface marker expressed in classical brown and beige adipocytes in mice and humans
PMID: 25080478
3
P2RX5 mRNA expression significantly increased in DLPFC in schizophrenia; correlates with inflammatory marker SERPINA3
PMID: 36376358
4
P2RX5 identified as plausible gene for neurovascular unit in genetic loci related to cell-type composition in neuropsychiatric disorders
PMID: 38781333
5
P2RX5 is a target mRNA of miR-186-5p in chordoma progression
PMID: 38012562
6
P2RX5 p.Leu32Gln variant found in familial papillary thyroid carcinoma but with high minor allele frequency questioning pathogenicity
PMID: 40939960
7
P2RX5 exhibits differential transcript usage between tissues with structural differences between isoforms suggesting tissue-specific roles
PMID: 41318386
Disease Associationsⓘ20
Parkinson diseaseOpen Targets
0.18Weak
neoplasmOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
non-small cell lung carcinomaOpen Targets
0.08Suggestive
type 1 diabetes mellitusOpen Targets
0.08Suggestive
depressive disorderOpen Targets
0.08Suggestive
acute lymphoblastic leukemiaOpen Targets
0.08Suggestive
HepatoblastomaOpen Targets
0.07Suggestive
Benign familial choreaOpen Targets
0.06Suggestive
cancerOpen Targets
0.05Suggestive
gastric cancerOpen Targets
0.05Suggestive
X-linked spinocerebellar ataxia type 4Open Targets
0.05Suggestive
osteosarcomaOpen Targets
0.05Suggestive
epilepsy, progressive myoclonic, 12Open Targets
0.04Suggestive
choreaOpen Targets
0.04Suggestive
ulcerative colitisOpen Targets
0.04Suggestive
X-Linked Combined Immunodeficiency DiseasesOpen Targets
0.04Suggestive
renal cell carcinomaOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GRIN1Protein interaction91%GRIN2DProtein interaction91%GRIN2AProtein interaction91%GRIN2CProtein interaction91%P2RY2Protein interaction80%P2RY4Protein interaction80%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
87%
Lung
59%
Brain
44%
Liver
25%
Ovary
5%
Gene Interaction Network
Click a node to explore
P2RX5GRIN1GRIN2DGRIN2AGRIN2CP2RY2P2RY4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q93086
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.07LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.82 [0.63–1.07]
RankingsWhere P2RX5 stands among ~20K protein-coding genes
  • #11,566of 20,598
    Most Researched32
  • #10,827of 17,882
    Most Constrained (LOEUF)1.07
Genes detectedP2RX5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
ASC-1, PAT2, and P2RX5 are cell surface markers for white, beige, and brown adipocytes.
PMID: 25080478
Sci Transl Med · 2014
1.00
2
Altered purinergic receptor expression in the frontal cortex in schizophrenia.
PMID: 36376358
Schizophrenia (Heidelb) · 2022
0.90
3
A truncation variant of the cation channel P2RX5 is upregulated during T cell activation.
PMID: 25181038
PLoS One · 2014
0.80
4
Brain cell-type shifts in Alzheimer's disease, autism, and schizophrenia interrogated using methylomics and genetics.
PMID: 38781333
Sci Adv · 2024
0.70
5
Function and regulation of miR-186-5p, miR-125b-5p and miR-1260a in chordoma.
PMID: 38012562
BMC Cancer · 2023
0.60