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Aliases for P2RX2 Gene

Aliases for P2RX2 Gene

  • Purinergic Receptor P2X, Ligand Gated Ion Channel, 2 2 3
  • Purinergic Receptor P2X, Ligand-Gated Ion Channel, 2 2 3
  • ATP Receptor 3 4
  • P2X2 3 4
  • Deafness, Autosomal Dominant 41 2
  • P2X Receptor, Subunit 2 3
  • Purinergic Receptor 4
  • DFNA41 3

External Ids for P2RX2 Gene

Previous HGNC Symbols for P2RX2 Gene

  • DFNA41

Previous GeneCards Identifiers for P2RX2 Gene

  • GC00U990510
  • GC12M132628
  • GC12P132820
  • GC12P131434
  • GC12P131805
  • GC12P131705
  • GC12P133195
  • GC12P129975

Summaries for P2RX2 Gene

Entrez Gene Summary for P2RX2 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]

GeneCards Summary for P2RX2 Gene

P2RX2 (Purinergic Receptor P2X, Ligand Gated Ion Channel, 2) is a Protein Coding gene. Diseases associated with P2RX2 include dfna41 nonsyndromic hearing loss and deafness and deafness, autosomal dominant 41. Among its related pathways are CREB Pathway and Calcium signaling pathway. GO annotations related to this gene include identical protein binding and phosphatidylinositol binding. An important paralog of this gene is P2RX1.

UniProtKB/Swiss-Prot for P2RX2 Gene

  • Ion channel gated by extracellular ATP involved in a variety of cellular responses, such as excitatory postsynaptic responses in sensory neurons, neuromuscular junctions (NMJ) formation, hearing, perception of taste and peristalsis. In the inner ear, regulates sound transduction and auditory neurotransmission, outer hair cell electromotility, inner ear gap junctions, and K(+) recycling. Mediates synaptic transmission between neurons and from neurons to smooth muscle.

Tocris Summary for P2RX2 Gene

  • P2X receptors are members of the ligand-gated ion channel family that open in response to extracellular ATP. Each receptor is made up of a trimer of subunits (P2X1-7) all of which share the common structure of two transmembrane domains.

Gene Wiki entry for P2RX2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for P2RX2 Gene

Genomics for P2RX2 Gene

Regulatory Elements for P2RX2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for P2RX2 Gene

Chromosome:
12
Start:
132,618,780 bp from pter
End:
132,622,462 bp from pter
Size:
3,683 bases
Orientation:
Plus strand

Genomic View for P2RX2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for P2RX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for P2RX2 Gene

Proteins for P2RX2 Gene

  • Protein details for P2RX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBL9-P2RX2_HUMAN
    Recommended name:
    P2X purinoceptor 2
    Protein Accession:
    Q9UBL9
    Secondary Accessions:
    • A6NGB4
    • A6NH93
    • A6NHC2
    • A6NHU3
    • A6NIG9
    • Q6V9R6
    • Q9NR37
    • Q9NR38
    • Q9UHD5
    • Q9UHD6
    • Q9UHD7
    • Q9Y637
    • Q9Y638

    Protein attributes for P2RX2 Gene

    Size:
    471 amino acids
    Molecular mass:
    51754 Da
    Quaternary structure:
    • Homotrimer and heterotrimer; functional P2XRs are organized as homomeric and heteromeric trimers

    Alternative splice isoforms for P2RX2 Gene

neXtProt entry for P2RX2 Gene

Proteomics data for P2RX2 Gene at MOPED

Post-translational modifications for P2RX2 Gene

  • Glycosylation at Asn 133, Asn 194, and Asn 310
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for P2RX2 Gene

Domains & Families for P2RX2 Gene

Gene Families for P2RX2 Gene

Protein Domains for P2RX2 Gene

Suggested Antigen Peptide Sequences for P2RX2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UBL9

UniProtKB/Swiss-Prot:

P2RX2_HUMAN :
  • Belongs to the P2X receptor family.
Family:
  • Belongs to the P2X receptor family.
genes like me logo Genes that share domains with P2RX2: view

Function for P2RX2 Gene

Molecular function for P2RX2 Gene

UniProtKB/Swiss-Prot Function:
Ion channel gated by extracellular ATP involved in a variety of cellular responses, such as excitatory postsynaptic responses in sensory neurons, neuromuscular junctions (NMJ) formation, hearing, perception of taste and peristalsis. In the inner ear, regulates sound transduction and auditory neurotransmission, outer hair cell electromotility, inner ear gap junctions, and K(+) recycling. Mediates synaptic transmission between neurons and from neurons to smooth muscle.

Gene Ontology (GO) - Molecular Function for P2RX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001614 purinergic nucleotide receptor activity NAS 17895406
GO:0004931 extracellular ATP-gated cation channel activity NAS 17895406
GO:0005507 copper ion binding IEA --
GO:0005515 protein binding --
GO:0005524 ATP binding NAS 17895406
genes like me logo Genes that share ontologies with P2RX2: view
genes like me logo Genes that share phenotypes with P2RX2: view

Animal Models for P2RX2 Gene

MGI Knock Outs for P2RX2:

Animal Model Products

CRISPR Products

miRNA for P2RX2 Gene

miRTarBase miRNAs that target P2RX2

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for P2RX2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for P2RX2 Gene

Localization for P2RX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for P2RX2 Gene

Cell membrane; Multi-pass membrane protein. Note=Localizes to the apical membranes of hair cells in the organ of Corti.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for P2RX2 Gene COMPARTMENTS Subcellular localization image for P2RX2 gene
Compartment Confidence
plasma membrane 5
nucleus 3
extracellular 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for P2RX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005639 integral component of nuclear inner membrane IBA --
GO:0005886 plasma membrane --
GO:0005887 integral component of plasma membrane IDA 23345450
GO:0009986 cell surface IEA --
genes like me logo Genes that share ontologies with P2RX2: view

Pathways & Interactions for P2RX2 Gene

genes like me logo Genes that share pathways with P2RX2: view

Pathways by source for P2RX2 Gene

1 Qiagen pathway for P2RX2 Gene

Gene Ontology (GO) - Biological Process for P2RX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0003029 detection of hypoxic conditions in blood by carotid body chemoreceptor signaling IEA --
GO:0006812 cation transport IBA --
GO:0007268 synaptic transmission --
GO:0007274 neuromuscular synaptic transmission IEA --
genes like me logo Genes that share ontologies with P2RX2: view

No data available for SIGNOR curated interactions for P2RX2 Gene

Drugs & Compounds for P2RX2 Gene

(8) Drugs for P2RX2 Gene - From: NovoSeek and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ivermectin Approved Pharma NAChR/purinergic P2X4 receptor modulator, Allosteric modulator of alpha7 nicotinic receptors 45
Suramin Approved Pharma Activator 18
Zinc Approved Pharma 1404
ATP Pharma Activator 0
BzATP Pharma Full agonist, Agonist 0

(8) Additional Compounds for P2RX2 Gene - From: NovoSeek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
BzATP triethylammonium salt
112898-15-4
NF 023
104869-31-0
NF 449
627034-85-9
Suramin hexasodium salt
129-46-4
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with P2RX2: view

Transcripts for P2RX2 Gene

Unigene Clusters for P2RX2 Gene

Purinergic receptor P2X, ligand-gated ion channel, 2:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for P2RX2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for P2RX2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b · 12c
SP1: -
SP2: -
SP3: - - -
SP4: -
SP5:
SP6: - -
SP7: - - - -
SP8: - - - -

Relevant External Links for P2RX2 Gene

GeneLoc Exon Structure for
P2RX2
ECgene alternative splicing isoforms for
P2RX2

Expression for P2RX2 Gene

mRNA expression in normal human tissues for P2RX2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for P2RX2 Gene

This gene is overexpressed in Prostate (x6.5), Brain - Hippocampus (x6.0), Esophagus - Gastroesophageal Junction (x5.9), and Esophagus - Muscularis (x5.5).

Protein differential expression in normal tissues from HIPED for P2RX2 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for P2RX2 Gene



SOURCE GeneReport for Unigene cluster for P2RX2 Gene Hs.258580

genes like me logo Genes that share expression patterns with P2RX2: view

Protein tissue co-expression partners for P2RX2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for P2RX2 Gene

Orthologs for P2RX2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for P2RX2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia P2RX2 35
  • 88.45 (n)
  • 87.93 (a)
P2RX2 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia P2RX2 35
  • 87.4 (n)
  • 88.17 (a)
P2X2 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia P2rx2 35
  • 83.09 (n)
  • 81.1 (a)
P2rx2 16
P2rx2 36
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia P2RX2 35
  • 95.26 (n)
  • 93.25 (a)
P2RX2 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia P2rx2 35
  • 82.53 (n)
  • 81.44 (a)
oppossum
(Monodelphis domestica)
Mammalia P2RX2 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia P2RX2 36
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves P2RX2 35
  • 69.49 (n)
  • 64.21 (a)
P2RX2 36
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia P2RX2 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia p2rx2 35
  • 66.29 (n)
  • 68.36 (a)
zebrafish
(Danio rerio)
Actinopterygii p2rx2 35
  • 59.89 (n)
  • 56.59 (a)
p2rx2 36
  • 52 (a)
OneToOne
Species with no ortholog for P2RX2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for P2RX2 Gene

ENSEMBL:
Gene Tree for P2RX2 (if available)
TreeFam:
Gene Tree for P2RX2 (if available)

Paralogs for P2RX2 Gene

Paralogs for P2RX2 Gene

(6) SIMAP similar genes for P2RX2 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with P2RX2: view

Variants for P2RX2 Gene

Sequence variations from dbSNP and Humsavar for P2RX2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs4883632 -- 132,621,435(-) ACGGC(A/G)TCTGA intron-variant
rs5801985 -- 132,618,135(-) TAGTT(-/T)ATTAT upstream-variant-2KB
rs6560889 -- 132,618,549(+) GGCCC(A/C)CACCT upstream-variant-2KB
rs6560890 -- 132,618,725(+) GAGCT(A/C)CCCGC upstream-variant-2KB
rs6560891 -- 132,620,432(+) CTCCT(A/G)CCGCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for P2RX2 Gene

Variant ID Type Subtype PubMed ID
nsv826563 CNV Gain 20364138
dgv1531n71 CNV Loss 21882294
dgv1534n71 CNV Loss 21882294
dgv1536n71 CNV Loss 21882294
dgv1543n71 CNV Loss 21882294
nsv899826 CNV Loss 21882294
esv2422284 CNV Deletion 17116639
esv2747027 CNV Deletion 23290073
esv2747028 CNV Deletion 23290073
esv2176473 CNV Deletion 18987734
nsv52739 CNV Loss 16902084
esv1007069 CNV Deletion 20482838
esv1521676 CNV Deletion 17803354

Variation tolerance for P2RX2 Gene

Residual Variation Intolerance Score: 67.78% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.55; 44.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for P2RX2 Gene

HapMap Linkage Disequilibrium report
P2RX2
Human Gene Mutation Database (HGMD)
P2RX2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for P2RX2 Gene

Disorders for P2RX2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for P2RX2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
dfna41 nonsyndromic hearing loss and deafness
  • deafness, autosomal dominant 41
deafness, autosomal dominant 41
  • deafness, autosomal dominant, 41
autosomal dominant non-syndromic sensorineural deafness type dfna
  • autosomal dominant isolated neurosensory deafness type dfna
neurogenic bladder
  • neurogenic bladder nos
low compliance bladder
  • hyperactivity of bladder
- elite association
Search P2RX2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

P2RX2_HUMAN
  • Deafness, autosomal dominant, 41 (DFNA41) [MIM:608224]: A form of non-syndromic deafness characterized by onset of progressive sensorineural hearing loss usually in the second decade. The hearing loss is severe and ultimately affects all frequencies. Exposure to noise exacerbates the hearing loss, particularly at high frequencies. {ECO:0000269 PubMed:23345450, ECO:0000269 PubMed:24211385}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for P2RX2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
P2RX2
genes like me logo Genes that share disorders with P2RX2: view

No data available for Genatlas for P2RX2 Gene

Publications for P2RX2 Gene

  1. Molecular and functional characterization of human P2X(2) receptors. (PMID: 10570044) Lynch K.J. … Jarvis M.F. (Mol. Pharmacol. 1999) 2 23 67
  2. Mutation of the ATP-gated P2X(2) receptor leads to progressive hearing loss and increased susceptibility to noise. (PMID: 23345450) Yan D. … Liu X.Z. (Proc. Natl. Acad. Sci. U.S.A. 2013) 2 67
  3. Changing P2X receptor localization on maturing sperm in the epididymides of mice, hamsters, rats, and humans: a preliminary study. (PMID: 19338992) Banks F.C. … Burnstock G. (Fertil. Steril. 2010) 23 67
  4. Role of purinergic signaling pathways in V-ATPase recruitment to apical membrane of acidifying epididymal clear cells. (PMID: 20071692) BelleannAce C. … Breton S. (Am. J. Physiol., Cell Physiol. 2010) 23 67
  5. Amitriptyline does not block the action of ATP at human P2X4 receptor. (PMID: 20331601) Sim J.A. … North R.A. (Br. J. Pharmacol. 2010) 23 67

Products for P2RX2 Gene

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