Seroatlas · Human Serome Atlas

P2RX2

P2X purinoceptor 2

Also known as: DFNA41, P2RX2_HUMAN, P2X2

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9UBL9
Gene
P2RX2
Ensembl
ENSG00000187848
Chromosome
12
Canonical length
471 aa
Protein class
Disease related genes, Human disease related genes, Predicted membrane proteins
Quaternary structure
Homotrimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

471 residues, UniProt reviewed canonical sequence.

>Q9UBL9|P2RX2
     1  MAAAQPKYPA GATARRLARG CWSALWDYET PKVIVVRNRR LGVLYRAVQL LILLYFVWYV
    61  FIVQKSYQES ETGPESSIIT KVKGITTSEH KVWDVEEYVK PPEGGSVFSI ITRVEATHSQ
   121  TQGTCPESIR VHNATCLSDA DCVAGELDML GNGLRTGRCV PYYQGPSKTC EVFGWCPVED
   181  GASVSQFLGT MAPNFTILIK NSIHYPKFHF SKGNIADRTD GYLKRCTFHE ASDLYCPIFK
   241  LGFIVEKAGE SFTELAHKGG VIGVIINWDC DLDLPASECN PKYSFRRLDP KHVPASSGYN
   301  FRFAKYYKIN GTTTRTLIKA YGIRIDVIVH GQAGKFSLIP TIINLATALT SVGVGSFLCD
   361  WILLTFMNKN KVYSHKKFDK VCTPSHPSGS WPVTLARVLG QAPPEPGHRS EDQHPSPPSG
   421  QEGQQGAECG PAFPPLRPCP ISAPSEQMVD TPASEPAQAS TPTDPKGLAQ L

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against P2RX2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
2
Mean surface accessibility (rSASA)
0.41
Highest tissue expression
21 nTPM

Expression across tissuesHPA

Tissue

  • epididymis: 21 nTPM
  • prostate: 14 nTPM
  • hippocampal formation: 12 nTPM
  • seminal vesicle: 8.5 nTPM
  • esophagus: 6.7 nTPM
  • amygdala: 6.6 nTPM

Single-cell type

  • breast lactating cells: 18 nCPM
  • fibroblasts: 7.6 nCPM
  • epididymal efferent duct ciliated cells: 5.5 nCPM
  • oocytes: 4.6 nCPM
  • brain excitatory neurons: 3.1 nCPM
  • smooth muscle cells: 2.7 nCPM

Immune cell

  • plasmacytoid DC: 0.1 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM

Brain region

  • cerebral cortex: 23 nTPM
  • hippocampal formation: 21 nTPM
  • amygdala: 19 nTPM
  • hypothalamus: 3.6 nTPM
  • thalamus: 2.4 nTPM
  • basal ganglia: 1.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about P2RX2.

Disease | AllUniProt

Conditions P2RX2 is implicated in, by any mechanism.

  • Deafness, autosomal dominant, 41 (DFNA41) MIM:608224

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 337 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.4
gnomAD pLI
0
gnomAD missense Z
0.23
DepMap mean gene effect
-0.1
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads P2RX2 as an antibody target. Whether an autoantibody or antibody against P2RX2 could matter depends on whether native P2RX2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

P2RX2 is annotated at the cell surface, where native P2RX2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label P2RX2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/P2RX2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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