Human Gene P2RX2 (ENST00000643471.2_6) from GENCODE V47lift37
  Description: purinergic receptor P2X 2, transcript variant 1 (from RefSeq NM_170682.4)
Gencode Transcript: ENST00000643471.2_6
Gencode Gene: ENSG00000187848.15_14
Transcript (Including UTRs)
   Position: hg19 chr12:133,195,362-133,198,974 Size: 3,613 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg19 chr12:133,195,403-133,198,558 Size: 3,156 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:133,195,362-133,198,974)mRNA (may differ from genome)Protein (471 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: P2RX2_HUMAN
DESCRIPTION: RecName: Full=P2X purinoceptor 2; Short=P2X2; AltName: Full=ATP receptor; AltName: Full=Purinergic receptor;
FUNCTION: Binding of this ligand-gated ion channel to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle.
SUBUNIT: Functional P2XRs are organized as homomeric and heteromeric trimers.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
SIMILARITY: Belongs to the P2X receptor family.
WEB RESOURCE: Name=Wikipedia; Note=P2X receptor entry; URL="http://en.wikipedia.org/wiki/P2X_receptor";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: P2RX2
Diseases sorted by gene-association score: deafness, autosomal dominant 41* (1247), dfna41 nonsyndromic hearing loss and deafness* (500), autosomal dominant non-syndromic sensorineural deafness type dfna* (202), neurogenic bladder (10), low compliance bladder (9), bladder disease (5), pain disorder (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -14.3041-0.349 Picture PostScript Text
3' UTR -157.60416-0.379 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003045 - P2X2_purnocptor
IPR001429 - P2X_purnocptor

Pfam Domains:
PF00864 - ATP P2X receptor

ModBase Predicted Comparative 3D Structure on Q9UBL9
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001614 purinergic nucleotide receptor activity
GO:0004931 extracellular ATP-gated cation channel activity
GO:0005216 ion channel activity
GO:0005524 ATP binding
GO:0015276 ligand-gated ion channel activity
GO:0042802 identical protein binding

Biological Process:
GO:0001666 response to hypoxia
GO:0003029 detection of hypoxic conditions in blood by carotid body chemoreceptor signaling
GO:0006811 ion transport
GO:0007268 chemical synaptic transmission
GO:0007274 neuromuscular synaptic transmission
GO:0007528 neuromuscular junction development
GO:0007596 blood coagulation
GO:0007605 sensory perception of sound
GO:0009743 response to carbohydrate
GO:0010033 response to organic substance
GO:0010524 positive regulation of calcium ion transport into cytosol
GO:0014832 urinary bladder smooth muscle contraction
GO:0030432 peristalsis
GO:0033198 response to ATP
GO:0035590 purinergic nucleotide receptor signaling pathway
GO:0048266 behavioral response to pain
GO:0048741 skeletal muscle fiber development
GO:0050850 positive regulation of calcium-mediated signaling
GO:0050909 sensory perception of taste
GO:0051260 protein homooligomerization
GO:0060079 excitatory postsynaptic potential
GO:0098655 cation transmembrane transport

Cellular Component:
GO:0005622 intracellular
GO:0005639 integral component of nuclear inner membrane
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0043235 receptor complex
GO:0098794 postsynapse


-  Descriptions from all associated GenBank mRNAs
  AF260426 - Homo sapiens purinoceptor P2X2A (P2X2) mRNA, complete cds, alternatively spliced.
KJ902261 - Synthetic construct Homo sapiens clone ccsbBroadEn_11655 P2RX2 gene, encodes complete protein.
AF190823 - Homo sapiens P2X2B receptor (P2X2) mRNA, complete cds.
AF190824 - Homo sapiens P2X2C receptor (P2X2) mRNA, complete cds.
AF190825 - Homo sapiens P2X2D receptor (P2X2) mRNA, complete cds.
AF260427 - Homo sapiens purinoceptor P2X2B (P2X2) mRNA, complete cds, alternatively spliced.
AF260428 - Homo sapiens purinoceptor P2X2H (P2X2) mRNA, complete cds, alternatively spliced.
AF260429 - Homo sapiens purinoceptor P2X2I (P2X2) mRNA, complete cds, alternatively spliced.
AY346374 - Homo sapiens P2X2B receptor (P2X2) mRNA, complete cds; alternatively spliced.
BC109200 - Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 2, mRNA (cDNA clone MGC:129601 IMAGE:40005772), complete cds.
AF190822 - Homo sapiens P2X2A receptor (P2X2) mRNA, complete cds.
AF109387 - Homo sapiens P2X2A receptor mRNA, complete cds.
AF109388 - Homo sapiens P2X2B receptor mRNA, complete cds.
HQ323686 - Homo sapiens purinergic receptor P2X-like mRNA, partial sequence.
JD386166 - Sequence 367190 from Patent EP1572962.
JD352395 - Sequence 333419 from Patent EP1572962.
JD367927 - Sequence 348951 from Patent EP1572962.
JD175392 - Sequence 156416 from Patent EP1572962.
JD144410 - Sequence 125434 from Patent EP1572962.
JD452313 - Sequence 433337 from Patent EP1572962.
JD218334 - Sequence 199358 from Patent EP1572962.
JD122498 - Sequence 103522 from Patent EP1572962.
JD512997 - Sequence 494021 from Patent EP1572962.
JD503750 - Sequence 484774 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9UBL9 (Reactome details) participates in the following event(s):

R-HSA-419490 Binding of ATP to P2X receptors
R-HSA-139855 P2X1-mediated entry of Ca++ from plasma
R-HSA-418346 Platelet homeostasis
R-HSA-109582 Hemostasis
R-HSA-139853 Elevation of cytosolic Ca2+ levels
R-HSA-418360 Platelet calcium homeostasis

-  Other Names for This Gene
  Alternate Gene Symbols: A6NGB4, A6NH93, A6NHC2, A6NHU3, A6NIG9, ENST00000643471.1, NM_170682, P2RX2_HUMAN, P2X2, Q6V9R6, Q9NR37, Q9NR38, Q9UBL9, Q9UHD5, Q9UHD6, Q9UHD7, Q9Y637, Q9Y638, uc328jrv.1, uc328jrv.2
UCSC ID: ENST00000643471.2_6
RefSeq Accession: NM_170682.4
Protein: Q9UBL9 (aka P2RX2_HUMAN or P2X2_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene P2RX2:
deafness-overview (Genetic Hearing Loss Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.