Human Gene P2RX7 (ENST00000328963.10) from GENCODE V44
  Description: Homo sapiens purinergic receptor P2X 7 (P2RX7), transcript variant 9, non-coding RNA. (from RefSeq NR_033955)
RefSeq Summary (NM_002562): The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010].
Gencode Transcript: ENST00000328963.10
Gencode Gene: ENSG00000089041.17
Transcript (Including UTRs)
   Position: hg38 chr12:121,132,876-121,188,032 Size: 55,157 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg38 chr12:121,132,971-121,184,802 Size: 51,832 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:121,132,876-121,188,032)mRNA (may differ from genome)Protein (595 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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HGNCLynxMalacardsMGIneXtProtOMIM
PubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: P2RX7_HUMAN
DESCRIPTION: RecName: Full=P2X purinoceptor 7; Short=P2X7; AltName: Full=ATP receptor; AltName: Full=P2Z receptor; AltName: Full=Purinergic receptor;
FUNCTION: Receptor for ATP that acts as a ligand-gated ion channel. Responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Could function in both fast synaptic transmission and the ATP-mediated lysis of antigen-presenting cells.
SUBUNIT: Functional P2XRs are organized as homomeric and heteromeric trimers. Interacts with LAMA3, ITGB2, ACTB, ACTN4, SVIL, MPP3, HSPA1, HSPCB, HSPA8, PIK230 and PTPRB.
INTERACTION: P00519:ABL1; NbExp=1; IntAct=EBI-1753251, EBI-375543; P62993:GRB2; NbExp=1; IntAct=EBI-1753251, EBI-401755; P16333:NCK1; NbExp=1; IntAct=EBI-1753251, EBI-389883;
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
PTM: Phosphorylation results in its inactivation.
PTM: ADP-ribosylation at Arg-125 is necessary and sufficient to activate P2RX7 and gate the channel (By similarity).
PTM: Palmitoylation of several cysteines in the C-terminal cytoplasmic tail is required for efficient localization to cell surface.
SIMILARITY: Belongs to the P2X receptor family.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org//Genes/P2RX7ID41623ch12q24.html";
WEB RESOURCE: Name=Wikipedia; Note=P2X receptor entry; URL="http://en.wikipedia.org/wiki/P2X_receptor";
WEB RESOURCE: Name=Wikipedia; Note=P2RX7 entry; URL="http://en.wikipedia.org/wiki/P2RX7";

-  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: P2RX7
Diseases sorted by gene-association score: extrapulmonary tuberculosis (13), chronic lymphocytic leukemia* (12), bone cancer (9), tularemia (8), root resorption (8), pulmonary tuberculosis (6), n syndrome (6), arts syndrome (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D000255 Adenosine Triphosphate
  • C033901 3'-O-(4-benzoyl)benzoyladenosine 5'-triphosphate
  • C573616 3-(5-(2,3-dichlorophenyl)-1H-tetrazol-1-yl)methylpyridine
  • D001564 Benzo(a)pyrene
  • C063302 KN 62
  • D013749 Tetrachlorodibenzodioxin
  • C004692 coomassie Brilliant Blue
  • C009090 protoberberine
  • C077792 pyridoxal phosphate-6-azophenyl-2',4'-disulfonic acid
  • C515928 (N-(1-(((cyanoimino)(5-quinolinylamino) methyl) amino)-2,2-dimethylpropyl)-2-(3,4-dimethoxyphenyl)acetamide)
          more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.40 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 117.84 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -31.8095-0.335 Picture PostScript Text
3' UTR -990.603230-0.307 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
IPR003050 - P2X7_purnocptor
IPR001429 - P2X_purnocptor

Pfam Domains:
PF00864 - ATP P2X receptor

ModBase Predicted Comparative 3D Structure on Q99572
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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
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001530 lipopolysaccharide binding
GO:0001614 purinergic nucleotide receptor activity
GO:0004931 extracellular ATP-gated cation channel activity
GO:0005102 receptor binding
GO:0005216 ion channel activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0015267 channel activity
GO:0038023 signaling receptor activity
GO:0042803 protein homodimerization activity

Biological Process:
GO:0000187 activation of MAPK activity
GO:0000902 cell morphogenesis
GO:0001845 phagolysosome assembly
GO:0001916 positive regulation of T cell mediated cytotoxicity
GO:0001934 positive regulation of protein phosphorylation
GO:0002028 regulation of sodium ion transport
GO:0006468 protein phosphorylation
GO:0006509 membrane protein ectodomain proteolysis
GO:0006649 phospholipid transfer to membrane
GO:0006811 ion transport
GO:0006812 cation transport
GO:0006816 calcium ion transport
GO:0006884 cell volume homeostasis
GO:0006900 membrane budding
GO:0006954 inflammatory response
GO:0007005 mitochondrion organization
GO:0007009 plasma membrane organization
GO:0007166 cell surface receptor signaling pathway
GO:0007596 blood coagulation
GO:0009612 response to mechanical stimulus
GO:0009617 response to bacterium
GO:0010033 response to organic substance
GO:0010043 response to zinc ion
GO:0010467 gene expression
GO:0010524 positive regulation of calcium ion transport into cytosol
GO:0010628 positive regulation of gene expression
GO:0012501 programmed cell death
GO:0014049 positive regulation of glutamate secretion
GO:0014054 positive regulation of gamma-aminobutyric acid secretion
GO:0014070 response to organic cyclic compound
GO:0016079 synaptic vesicle exocytosis
GO:0016485 protein processing
GO:0017121 phospholipid scrambling
GO:0019233 sensory perception of pain
GO:0019835 cytolysis
GO:0030163 protein catabolic process
GO:0030501 positive regulation of bone mineralization
GO:0031668 cellular response to extracellular stimulus
GO:0032060 bleb assembly
GO:0032308 positive regulation of prostaglandin secretion
GO:0032496 response to lipopolysaccharide
GO:0032731 positive regulation of interleukin-1 beta production
GO:0032755 positive regulation of interleukin-6 production
GO:0032963 collagen metabolic process
GO:0033198 response to ATP
GO:0034405 response to fluid shear stress
GO:0034767 positive regulation of ion transmembrane transport
GO:0035590 purinergic nucleotide receptor signaling pathway
GO:0042098 T cell proliferation
GO:0042493 response to drug
GO:0043029 T cell homeostasis
GO:0043065 positive regulation of apoptotic process
GO:0043085 positive regulation of catalytic activity
GO:0043132 NAD transport
GO:0043409 negative regulation of MAPK cascade
GO:0043410 positive regulation of MAPK cascade
GO:0045332 phospholipid translocation
GO:0045778 positive regulation of ossification
GO:0045779 negative regulation of bone resorption
GO:0045794 negative regulation of cell volume
GO:0045821 positive regulation of glycolytic process
GO:0045919 positive regulation of cytolysis
GO:0046513 ceramide biosynthetic process
GO:0046931 pore complex assembly
GO:0048705 skeletal system morphogenesis
GO:0048873 homeostasis of number of cells within a tissue
GO:0050714 positive regulation of protein secretion
GO:0050715 positive regulation of cytokine secretion
GO:0050717 positive regulation of interleukin-1 alpha secretion
GO:0050718 positive regulation of interleukin-1 beta secretion
GO:0050830 defense response to Gram-positive bacterium
GO:0051209 release of sequestered calcium ion into cytosol
GO:0051259 protein oligomerization
GO:0051495 positive regulation of cytoskeleton organization
GO:0051592 response to calcium ion
GO:0051602 response to electrical stimulus
GO:0051709 regulation of killing of cells of other organism
GO:0051899 membrane depolarization
GO:0051901 positive regulation of mitochondrial depolarization
GO:0060079 excitatory postsynaptic potential
GO:0070230 positive regulation of lymphocyte apoptotic process
GO:0071359 cellular response to dsRNA
GO:0071407 cellular response to organic cyclic compound
GO:0072593 reactive oxygen species metabolic process
GO:0097190 apoptotic signaling pathway
GO:0097191 extrinsic apoptotic signaling pathway
GO:0098655 cation transmembrane transport
GO:1904172 positive regulation of bleb assembly

Cellular Component:
GO:0005639 integral component of nuclear inner membrane
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005911 cell-cell junction
GO:0009897 external side of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031594 neuromuscular junction
GO:0032059 bleb
GO:0043025 neuronal cell body
GO:0045202 synapse
GO:0098793 presynapse
GO:0098794 postsynapse


-  Descriptions from all associated GenBank mRNAs
  HH837101 - Sequence 28 from Patent EP2231168.
HI214742 - Sequence 28 from Patent EP2076526.
HV601544 - JP 2011500003-A/28: Novel siRNA Structures.
HV856617 - JP 2010507387-A/28: Novel siRNAs and Methods of Use Thereof.
HW061155 - JP 2012529430-A/30: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.
HW165104 - JP 2013102767-A/28: Novel siRNA's and Use Thereof.
HW675612 - JP 2014210789-A/28: Novel siRNA Structures.
HW835300 - JP 2015051004-A/28: Novel siRNA's and Use Thereof.
JA482110 - Sequence 93 from Patent WO2011072091.
JA538143 - Sequence 28 from Patent EP2371958.
JB251963 - Sequence 30 from Patent EP2440214.
JE980402 - Sequence 93 from Patent EP2862929.
LP764862 - Sequence 30 from Patent EP3276004.
AK294126 - Homo sapiens cDNA FLJ57351 complete cds, highly similar to P2X purinoceptor 7.
AK296432 - Homo sapiens cDNA FLJ61303 complete cds, highly similar to P2X purinoceptor 7.
AK290405 - Homo sapiens cDNA FLJ75632 complete cds, highly similar to Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 7 (P2RX7), transcript variant 1, mRNA.
BC121157 - Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 7, mRNA (cDNA clone IMAGE:40121389), partial cds.
BC121158 - Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 7, mRNA (cDNA clone IMAGE:40121392).
BC011913 - Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 7, mRNA (cDNA clone MGC:20089 IMAGE:4298811), complete cds.
AB209709 - Homo sapiens mRNA for P2X purinoceptor 7 variant protein.
BC007679 - Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 7, mRNA (cDNA clone MGC:3683 IMAGE:3628076), complete cds.
AK090866 - Homo sapiens cDNA FLJ33547 fis, clone BRAMY2008977, highly similar to P2X PURINOCEPTOR 7.
AK225163 - Homo sapiens mRNA for P2X purinoceptor 7 variant, clone: CBR02877.
AX746656 - Sequence 181 from Patent EP1308459.
Y09561 - H.sapiens mRNA for P2X7 receptor.
JD445277 - Sequence 426301 from Patent EP1572962.
GQ180122 - Homo sapiens purinergic receptor P2X7 variant A (P2RX7) mRNA, complete cds.
DQ893457 - Synthetic construct clone IMAGE:100006087; FLH193422.01X; RZPDo839G0178D purinergic receptor P2X, ligand-gated ion channel, 7 (P2RX7) gene, encodes complete protein.
DQ896337 - Synthetic construct Homo sapiens clone IMAGE:100010797; FLH193418.01L; RZPDo839G0168D purinergic receptor P2X, ligand-gated ion channel, 7 (P2RX7) gene, encodes complete protein.
AB590390 - Synthetic construct DNA, clone: pFN21AE1090, Homo sapiens P2RX7 gene for purinergic receptor P2X, ligand-gated ion channel, 7, without stop codon, in Flexi system.
CU680114 - Synthetic construct Homo sapiens gateway clone IMAGE:100019924 5' read P2RX7 mRNA.
AY847298 - Homo sapiens P2X7 isoform B (P2RX7) mRNA, complete cds, alternatively spliced.
AY847299 - Homo sapiens P2X7 isoform C (P2RX7) mRNA, complete cds, alternatively spliced.
AY847300 - Homo sapiens P2X7 isoform D (P2RX7) mRNA, complete cds, alternatively spliced.
AY847301 - Homo sapiens P2X7 isoform E (P2RX7) mRNA, complete cds, alternatively spliced.
AY847302 - Homo sapiens P2X7 isoform F (P2RX7) mRNA, complete cds, alternatively spliced.
AY847303 - Homo sapiens P2X7 isoform G (P2RX7) mRNA, complete cds, alternatively spliced.
AY847304 - Homo sapiens P2X7 isoform H (P2RX7) mRNA, complete cds, alternatively spliced.
DQ399293 - Homo sapiens P2 nucleotide receptor 7 splice variant J mRNA, complete cds, alternatively spliced.
JD049529 - Sequence 30553 from Patent EP1572962.
JD493746 - Sequence 474770 from Patent EP1572962.
JD241576 - Sequence 222600 from Patent EP1572962.
JD264945 - Sequence 245969 from Patent EP1572962.
JD056636 - Sequence 37660 from Patent EP1572962.
JD249201 - Sequence 230225 from Patent EP1572962.
JX471562 - Homo sapiens purinergic receptor P2X7 (P2RX7) mRNA, partial cds.
JD283205 - Sequence 264229 from Patent EP1572962.
JD566297 - Sequence 547321 from Patent EP1572962.
JD319125 - Sequence 300149 from Patent EP1572962.
JD343052 - Sequence 324076 from Patent EP1572962.
JD126968 - Sequence 107992 from Patent EP1572962.
JD139532 - Sequence 120556 from Patent EP1572962.
JD038926 - Sequence 19950 from Patent EP1572962.
JD115145 - Sequence 96169 from Patent EP1572962.
JD136444 - Sequence 117468 from Patent EP1572962.
JD542093 - Sequence 523117 from Patent EP1572962.
JD543676 - Sequence 524700 from Patent EP1572962.
JD345218 - Sequence 326242 from Patent EP1572962.
JD051792 - Sequence 32816 from Patent EP1572962.
JD451997 - Sequence 433021 from Patent EP1572962.
JD099296 - Sequence 80320 from Patent EP1572962.
JD212822 - Sequence 193846 from Patent EP1572962.
JD198205 - Sequence 179229 from Patent EP1572962.
JD413534 - Sequence 394558 from Patent EP1572962.
JD247204 - Sequence 228228 from Patent EP1572962.
JD540211 - Sequence 521235 from Patent EP1572962.
JD306325 - Sequence 287349 from Patent EP1572962.
JD055196 - Sequence 36220 from Patent EP1572962.
JD456878 - Sequence 437902 from Patent EP1572962.
JD369718 - Sequence 350742 from Patent EP1572962.
JD066824 - Sequence 47848 from Patent EP1572962.
JD184208 - Sequence 165232 from Patent EP1572962.
JD093091 - Sequence 74115 from Patent EP1572962.
JD561445 - Sequence 542469 from Patent EP1572962.
JD282012 - Sequence 263036 from Patent EP1572962.
JD230127 - Sequence 211151 from Patent EP1572962.
JD269719 - Sequence 250743 from Patent EP1572962.
JD271886 - Sequence 252910 from Patent EP1572962.
JD302117 - Sequence 283141 from Patent EP1572962.
JD349052 - Sequence 330076 from Patent EP1572962.
JD246512 - Sequence 227536 from Patent EP1572962.
JD239251 - Sequence 220275 from Patent EP1572962.
JD324330 - Sequence 305354 from Patent EP1572962.
JD524323 - Sequence 505347 from Patent EP1572962.
JD095664 - Sequence 76688 from Patent EP1572962.
JD241885 - Sequence 222909 from Patent EP1572962.
JD076023 - Sequence 57047 from Patent EP1572962.
JD558222 - Sequence 539246 from Patent EP1572962.
JD297241 - Sequence 278265 from Patent EP1572962.
JD412495 - Sequence 393519 from Patent EP1572962.
JD043228 - Sequence 24252 from Patent EP1572962.
JD236362 - Sequence 217386 from Patent EP1572962.
JD093165 - Sequence 74189 from Patent EP1572962.
JD561711 - Sequence 542735 from Patent EP1572962.
JD551538 - Sequence 532562 from Patent EP1572962.
JD080391 - Sequence 61415 from Patent EP1572962.
JD101830 - Sequence 82854 from Patent EP1572962.
JD362032 - Sequence 343056 from Patent EP1572962.
JD284197 - Sequence 265221 from Patent EP1572962.
JD251010 - Sequence 232034 from Patent EP1572962.
JD380503 - Sequence 361527 from Patent EP1572962.
JD103438 - Sequence 84462 from Patent EP1572962.
JD151756 - Sequence 132780 from Patent EP1572962.
JD405026 - Sequence 386050 from Patent EP1572962.
AF086177 - Homo sapiens full length insert cDNA clone ZB95G12.
JD188037 - Sequence 169061 from Patent EP1572962.
JD225786 - Sequence 206810 from Patent EP1572962.
JD511687 - Sequence 492711 from Patent EP1572962.
JD430522 - Sequence 411546 from Patent EP1572962.
JD091703 - Sequence 72727 from Patent EP1572962.
JD529791 - Sequence 510815 from Patent EP1572962.
JD529792 - Sequence 510816 from Patent EP1572962.
JD435032 - Sequence 416056 from Patent EP1572962.
JD435033 - Sequence 416057 from Patent EP1572962.
JD307190 - Sequence 288214 from Patent EP1572962.
JD307191 - Sequence 288215 from Patent EP1572962.
JD323074 - Sequence 304098 from Patent EP1572962.
JD448475 - Sequence 429499 from Patent EP1572962.
JD352053 - Sequence 333077 from Patent EP1572962.
JD257674 - Sequence 238698 from Patent EP1572962.
JD144012 - Sequence 125036 from Patent EP1572962.
JD230081 - Sequence 211105 from Patent EP1572962.
JD269649 - Sequence 250673 from Patent EP1572962.
JD189792 - Sequence 170816 from Patent EP1572962.
JD067636 - Sequence 48660 from Patent EP1572962.
JD451538 - Sequence 432562 from Patent EP1572962.
JD364610 - Sequence 345634 from Patent EP1572962.
JD318885 - Sequence 299909 from Patent EP1572962.
JD367564 - Sequence 348588 from Patent EP1572962.
JD548178 - Sequence 529202 from Patent EP1572962.
AK123448 - Homo sapiens cDNA FLJ41454 fis, clone BRSTN2011597.
AF086044 - Homo sapiens full length insert cDNA clone YX74D05.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04020 - Calcium signaling pathway
hsa04080 - Neuroactive ligand-receptor interaction

Reactome (by CSHL, EBI, and GO)

Protein Q99572 (Reactome details) participates in the following event(s):

R-HSA-877178 ATP binds to P2X7
R-HSA-877158 P2X7 forms oligomeric non-selective cation channels
R-HSA-419490 Binding of ATP to P2X receptors
R-HSA-877187 P2X7 mediates loss of intracellular K+
R-HSA-139855 P2X1-mediated entry of Ca++ from plasma
R-HSA-844456 The NLRP3 inflammasome
R-HSA-418346 Platelet homeostasis
R-HSA-622312 Inflammasomes
R-HSA-109582 Hemostasis
R-HSA-168643 Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
R-HSA-139853 Elevation of cytosolic Ca2+ levels
R-HSA-168249 Innate Immune System
R-HSA-418360 Platelet calcium homeostasis
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: A8K2Z0, ENST00000328963.1, ENST00000328963.2, ENST00000328963.3, ENST00000328963.4, ENST00000328963.5, ENST00000328963.6, ENST00000328963.7, ENST00000328963.8, ENST00000328963.9, NR_033955, O14991, P2RX7_HUMAN, Q96EV7, Q99572, uc001tzm.1, uc001tzm.2, uc001tzm.3, uc001tzm.4, uc001tzm.5
UCSC ID: ENST00000328963.10
RefSeq Accession: NM_002562
Protein: Q99572 (aka P2RX7_HUMAN or P2X7_HUMAN)
CCDS: CCDS9213.1

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