LOCUS       NM_002562               5113 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens purinergic receptor P2X 7 (P2RX7), transcript variant
            1, mRNA.
ACCESSION   NM_002562 NM_177428
VERSION     NM_002562.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5113)
  AUTHORS   Yang,J.K., Kim,J., Ahn,Y.H., Bae,S.H., Baek,M.J., Lee,S.H. and
            Moon,J.S.
  TITLE     Inhibition of P2RX7 contributes to cytotoxicity by suppression of
            glycolysis and AKT activation in human hepatocellular carcinoma
  JOURNAL   BMB Rep 57 (10), 459-464 (2024)
   PUBMED   39219047
  REMARK    GeneRIF: Inhibition of P2RX7 contributes to cytotoxicity by
            suppression of glycolysis and AKT activation in human
            hepatocellular carcinoma.
REFERENCE   2  (bases 1 to 5113)
  AUTHORS   Agliardi,C., Guerini,F.R., Zanzottera,M., Bolognesi,E., Caputo,D.,
            Rovaris,M. and Clerici,M.
  TITLE     Increased concentrations of P2X7R in oligodendrocyte derived
            extracellular vesicles of Multiple sclerosis patients
  JOURNAL   Neurobiol Dis 199, 106601 (2024)
   PUBMED   38996986
  REMARK    GeneRIF: Increased concentrations of P2X7R in oligodendrocyte
            derived extracellular vesicles of Multiple sclerosis patients.
REFERENCE   3  (bases 1 to 5113)
  AUTHORS   Pegoraro,A., Grignolo,M., Ruo,L., Ricci,L. and Adinolfi,E.
  TITLE     P2X7 Variants in Pathophysiology
  JOURNAL   Int J Mol Sci 25 (12), 6673 (2024)
   PUBMED   38928378
  REMARK    GeneRIF: P2X7 Variants in Pathophysiology.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5113)
  AUTHORS   Chen,L., Liu,Y., Yue,S., Wang,H., Chen,J., Ma,W., Xu,W., Xu,M.,
            Chen,Z., Chen,X., Zhang,L. and Liang,C.
  TITLE     P2X7R Modulates NEK7-NLRP3 Interaction to Exacerbate Experimental
            Autoimmune Prostatitis via GSDMD-mediated Prostate Epithelial Cell
            Pyroptosis
  JOURNAL   Int J Biol Sci 20 (9), 3393-3411 (2024)
   PUBMED   38993566
  REMARK    GeneRIF: P2X7R Modulates NEK7-NLRP3 Interaction to Exacerbate
            Experimental Autoimmune Prostatitis via GSDMD-mediated Prostate
            Epithelial Cell Pyroptosis.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5113)
  AUTHORS   Lindo,J., Nogueira,C., Soares,R., Cunha,N., Almeida,M.R.,
            Rodrigues,L., Coelho,P., Rodrigues,F., Cunha,R.A. and Goncalves,T.
  TITLE     Genetic Polymorphisms of P2RX7 but Not of ADORA2A Are Associated
            with the Severity of SARS-CoV-2 Infection
  JOURNAL   Int J Mol Sci 25 (11), 6135 (2024)
   PUBMED   38892324
  REMARK    GeneRIF: Genetic Polymorphisms of P2RX7 but Not of ADORA2A Are
            Associated with the Severity of SARS-CoV-2 Infection.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5113)
  AUTHORS   Kim,M., Jiang,L.H., Wilson,H.L., North,R.A. and Surprenant,A.
  TITLE     Proteomic and functional evidence for a P2X7 receptor signalling
            complex
  JOURNAL   EMBO J 20 (22), 6347-6358 (2001)
   PUBMED   11707406
REFERENCE   7  (bases 1 to 5113)
  AUTHORS   Gartland,A., Hipskind,R.A., Gallagher,J.A. and Bowler,W.B.
  TITLE     Expression of a P2X7 receptor by a subpopulation of human
            osteoblasts
  JOURNAL   J Bone Miner Res 16 (5), 846-856 (2001)
   PUBMED   11341329
  REMARK    GeneRIF: First description of the expression of functional P2X7
            receptors in a subpopulation of osteoblasts, activation of which
            can result in ATP-mediated apoptosis.
REFERENCE   8  (bases 1 to 5113)
  AUTHORS   Gu,B.J., Zhang,W., Worthington,R.A., Sluyter,R., Dao-Ung,P.,
            Petrou,S., Barden,J.A. and Wiley,J.S.
  TITLE     A Glu-496 to Ala polymorphism leads to loss of function of the
            human P2X7 receptor
  JOURNAL   J Biol Chem 276 (14), 11135-11142 (2001)
   PUBMED   11150303
REFERENCE   9  (bases 1 to 5113)
  AUTHORS   Buell,G.N., Talabot,F., Gos,A., Lorenz,J., Lai,E., Morris,M.A. and
            Antonarakis,S.E.
  TITLE     Gene structure and chromosomal localization of the human P2X7
            receptor
  JOURNAL   Recept Channels 5 (6), 347-354 (1998)
   PUBMED   9826911
REFERENCE   10 (bases 1 to 5113)
  AUTHORS   Rassendren,F., Buell,G.N., Virginio,C., Collo,G., North,R.A. and
            Surprenant,A.
  TITLE     The permeabilizing ATP receptor, P2X7. Cloning and expression of a
            human cDNA
  JOURNAL   J Biol Chem 272 (9), 5482-5486 (1997)
   PUBMED   9038151
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA302256.1, AK290405.1,
            AY847300.1, KF459557.1 and AC069209.38.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_002562.5.
            
            Summary: 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].
            
            Transcript Variant: This variant (1) encodes a functional protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.180805.1,
                                           SRR1660809.33577.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000328963.10/ ENSP00000330696.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4                 DA302256.1         58-61
            5-1164              AK290405.1         1-1160
            1165-1883           AY847300.1         973-1691
            1884-1984           KF459557.1         281-381
            1985-5113           AC069209.38        18699-21827
FEATURES             Location/Qualifiers
     source          1..5113
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     gene            1..5113
                     /gene="P2RX7"
                     /gene_synonym="P2X7"
                     /note="purinergic receptor P2X 7"
                     /db_xref="GeneID:5027"
                     /db_xref="HGNC:HGNC:8537"
                     /db_xref="MIM:602566"
     exon            1..220
                     /gene="P2RX7"
                     /gene_synonym="P2X7"
                     /inference="alignment:Splign:2.1.0"
     CDS             96..1883
                     /gene="P2RX7"
                     /gene_synonym="P2X7"
                     /note="ATP receptor; purinergic receptor P2X, ligand gated
                     ion channel, 7; P2Z receptor; P2X7 receptor; purnergic
                     receptor P2X 7"
                     /codon_start=1
                     /product="P2X purinoceptor 7"
                     /protein_id="NP_002553.3"
                     /db_xref="CCDS:CCDS9213.1"
                     /db_xref="GeneID:5027"
                     /db_xref="HGNC:HGNC:8537"
                     /db_xref="MIM:602566"
                     /translation="MPACCSCSDVFQYETNKVTRIQSMNYGTIKWFFHVIIFSYVCFA
                     LVSDKLYQRKEPVISSVHTKVKGIAEVKEEIVENGVKKLVHSVFDTADYTFPLQGNSF
                     FVMTNFLKTEGQEQRLCPEYPTRRTLCSSDRGCKKGWMDPQSKGIQTGRCVVYEGNQK
                     TCEVSAWCPIEAVEEAPRPALLNSAENFTVLIKNNIDFPGHNYTTRNILPGLNITCTF
                     HKTQNPQCPIFRLGDIFRETGDNFSDVAIQGGIMGIEIYWDCNLDRWFHHCRPKYSFR
                     RLDDKTTNVSLYPGYNFRYAKYYKENNVEKRTLIKVFGIRFDILVFGTGGKFDIIQLV
                     VYIGSTLSYFGLAAVFIDFLIDTYSSNCCRSHIYPWCKCCQPCVVNEYYYRKKCESIV
                     EPKPTLKYVSFVDESHIRMVNQQLLGRSLQDVKGQEVPRPAMDFTDLSRLPLALHDTP
                     PIPGQPEEIQLLRKEATPRSRDSPVWCQCGSCLPSQLPESHRCLEELCCRKKPGACIT
                     TSELFRKLVLSRHVLQFLLLYQEPLLALDVDSTNSRLRHCAYRCYATWRFGSQDMADF
                     AILPSCCRWRIRKEFPKSEGQYSGFKSPY"
     exon            221..389
                     /gene="P2RX7"
                     /gene_synonym="P2X7"
                     /inference="alignment:Splign:2.1.0"
     exon            390..458
                     /gene="P2RX7"
                     /gene_synonym="P2X7"
                     /inference="alignment:Splign:2.1.0"
     exon            459..531
                     /gene="P2RX7"
                     /gene_synonym="P2X7"
                     /inference="alignment:Splign:2.1.0"
     exon            532..628
                     /gene="P2RX7"
                     /gene_synonym="P2X7"
                     /inference="alignment:Splign:2.1.0"
     exon            629..709
                     /gene="P2RX7"
                     /gene_synonym="P2X7"
                     /inference="alignment:Splign:2.1.0"
     exon            710..839
                     /gene="P2RX7"
                     /gene_synonym="P2X7"
                     /inference="alignment:Splign:2.1.0"
     exon            840..976
                     /gene="P2RX7"
                     /gene_synonym="P2X7"
                     /inference="alignment:Splign:2.1.0"
     exon            977..1067
                     /gene="P2RX7"
                     /gene_synonym="P2X7"
                     /inference="alignment:Splign:2.1.0"
     exon            1068..1133
                     /gene="P2RX7"
                     /gene_synonym="P2X7"
                     /inference="alignment:Splign:2.1.0"
     exon            1134..1283
                     /gene="P2RX7"
                     /gene_synonym="P2X7"
                     /inference="alignment:Splign:2.1.0"
     exon            1284..1385
                     /gene="P2RX7"
                     /gene_synonym="P2X7"
                     /inference="alignment:Splign:2.1.0"
     exon            1386..5113
                     /gene="P2RX7"
                     /gene_synonym="P2X7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5091..5096
                     /regulatory_class="polyA_signal_sequence"
                     /gene="P2RX7"
                     /gene_synonym="P2X7"
                     /note="hexamer: ATTAAA"
     polyA_site      5113
                     /gene="P2RX7"
                     /gene_synonym="P2X7"
                     /note="major polyA site"
ORIGIN      
        1 tttcattttg cagttactgg gagggggctt gctgtggccc tgtcaggaag agtagagctc
       61 tggtccagct ccgcgcaggg agggaggctg tcaccatgcc ggcctgctgc agctgcagtg
      121 atgttttcca gtatgagacg aacaaagtca ctcggatcca gagcatgaat tatggcacca
      181 ttaagtggtt cttccacgtg atcatctttt cctacgtttg ctttgctctg gtgagtgaca
      241 agctgtacca gcggaaagag cctgtcatca gttctgtgca caccaaggtg aaggggatag
      301 cagaggtgaa agaggagatc gtggagaatg gagtgaagaa gttggtgcac agtgtctttg
      361 acaccgcaga ctacaccttc cctttgcagg ggaactcttt cttcgtgatg acaaactttc
      421 tcaaaacaga aggccaagag cagcggttgt gtcccgagta tcccacccgc aggacgctct
      481 gttcctctga ccgaggttgt aaaaagggat ggatggaccc gcagagcaaa ggaattcaga
      541 ccggaaggtg tgtagtgtat gaagggaacc agaagacctg tgaagtctct gcctggtgcc
      601 ccatcgaggc agtggaagag gccccccggc ctgctctctt gaacagtgcc gaaaacttca
      661 ctgtgctcat caagaacaat atcgacttcc ccggccacaa ctacaccacg agaaacatcc
      721 tgccaggttt aaacatcact tgtaccttcc acaagactca gaatccacag tgtcccattt
      781 tccgactagg agacatcttc cgagaaacag gcgataattt ttcagatgtg gcaattcagg
      841 gcggaataat gggcattgag atctactggg actgcaacct agaccgttgg ttccatcact
      901 gccgtcccaa atacagtttc cgtcgccttg acgacaagac caccaacgtg tccttgtacc
      961 ctggctacaa cttcagatac gccaagtact acaaggaaaa caatgttgag aaacggactc
     1021 tgataaaagt cttcgggatc cgttttgaca tcctggtttt tggcaccgga ggaaaatttg
     1081 acattatcca gctggttgtg tacatcggct caaccctctc ctacttcggt ctggccgctg
     1141 tgttcatcga cttcctcatc gacacttact ccagtaactg ctgtcgctcc catatttatc
     1201 cctggtgcaa gtgctgtcag ccctgtgtgg tcaacgaata ctactacagg aagaagtgcg
     1261 agtccattgt ggagccaaag ccgacattaa agtatgtgtc ctttgtggat gaatcccaca
     1321 ttaggatggt gaaccagcag ctactaggga gaagtctgca agatgtcaag ggccaagaag
     1381 tcccaagacc tgcgatggac ttcacagatt tgtccaggct gcccctggcc ctccatgaca
     1441 cacccccgat tcctggacaa ccagaggaga tacagctgct tagaaaggag gcgactccta
     1501 gatccaggga tagccccgtc tggtgccagt gtggaagctg cctcccatct caactccctg
     1561 agagccacag gtgcctggag gagctgtgct gccggaaaaa gccgggggcc tgcatcacca
     1621 cctcagagct gttcaggaag ctggtcctgt ccagacacgt cctgcagttc ctcctgctct
     1681 accaggagcc cttgctggcg ctggatgtgg attccaccaa cagccggctg cggcactgtg
     1741 cctacaggtg ctacgccacc tggcgcttcg gctcccagga catggctgac tttgccatcc
     1801 tgcccagctg ctgccgctgg aggatccgga aagagtttcc gaagagtgaa gggcagtaca
     1861 gtggcttcaa gagtccttac tgaagccagg caccgtggct cacgtctgta atcccagcgc
     1921 tttgggaggc cgaggcaggc agatcacctg aggtcgggag ttggagaccc gcctggctaa
     1981 caaggcgaaa tcctgtctgt actaaaaata caaaaatcag ccagacatgg tggcatgcac
     2041 ctgcaatccc agctactcgg gaggctgagg cacaagaatc acttgaaccc gggaggcaga
     2101 ggttgtagtg agcccagatt gtgccactgc tctccagcct gggaggcaca gcaaactgtc
     2161 ccccaaaaaa aaaaaagagt ccttaccaat agcaggggct gcagtagcca tgttaacatg
     2221 acatttacca gcaacttgaa cttcacctgc aaagctctgt ggccacattt tcagccaaag
     2281 ggaaatatgc tttcatcttc tgttgctctc tgtgtctgag agcaaagtga cctggttaaa
     2341 caaaccagaa tccctctaca tggactcaga gaaaagagat tgagatgtaa gtctcaactc
     2401 tgtccccagg aagttgtgtg accctaggcc tctcacctct gtgcctctgt ctccttgttg
     2461 cccaactact atctcagaga tattgtgagg acaaattgag acagtgcaca tgaactgtct
     2521 tttaatgtgt aaagatctac atgaatgcaa aacatttcat tatgaggtca gactaggata
     2581 atgtccaact aaaaacaaac ccttttcatc ctggctggag aatgtggaga actaaaggtg
     2641 gccacaaatt ctttgacact caagtccccc aagacctaag ggttttatct cctccccttg
     2701 aatatgggtg gctctgattg ctttatccaa aagtggaagt gacattgtgt cagtttcaga
     2761 tcctgatctt aagaggctga cagcttctac ttgctgtccc ttggaactct tgctatcggg
     2821 gaagccagac gccatttaaa agtctgccta tcctggccag gtgtggtggc tcacacctgt
     2881 aatcccagca ctttgggaga ccaaggcggg cggatcactt aaagtcagga gtccaagacc
     2941 agactcgcca acatggtgaa accgtatctc taataaaaat acaaaaatta gctgggcatg
     3001 gtgcgggcac ctgtagtcct agctatcaag aggctgagac aggagaaaca cttgaacctg
     3061 ggaggtggag gttgcattga gctgagatcg tgccactgca ctccaggctg ggtgacagag
     3121 cgagactcca tctcaaaaaa aaaaaaaaga aaaaaaaaat gtctgcctat cctgagactg
     3181 ccctgctgtg aggaagccca agcagtcacg tggacagtgc ctgaccagcc ccagctttca
     3241 agccatccaa gcccagtcac caaacatgag agagaagaag ccttcaggtg attctggact
     3301 ccactaacat atgactgata ccgcatgata catcccaagt gagaactgcc ccataaatcc
     3361 agaaaaccac attgctatct taagtcccta agtttggggc ttatttgttc cacagcaaca
     3421 ggtaactgga acagagggca agcctgatga atgggcacac agactcagcc cataccttcc
     3481 ctggttctaa tgttctcagg gagcccggac caaccctggg agcctcagga acttaggttt
     3541 ccactggaca gttctagaag ggctatagac caaatcaggt aactcaccag accagccttg
     3601 gaatctatca aatctaactg ctgagctacc caatgcattc cgatcctcat cacaattctt
     3661 tgactgaagg ccgggcgtgg tggctcacgc ctgtaatccc agcactttgg gaggctgagg
     3721 cgggtggatc acctgaggtc aggagttcga gaccagcctg gccaacatgg tgagaccctg
     3781 tctctactaa gaatacaaaa attaggtggg tgtggcggtg ggcgcctgta atcccagcta
     3841 cttgggaggc tgaggcagga gaatctcttg aacctggaag gtggaggttg caataagccg
     3901 agatagtgcc actgcactcc agcctagata acagagcaag actctgtctc aaaaaacaac
     3961 aacaacaaca acaaaacaat tctatgactg aaagtgacta aaaagctggc tttatgccat
     4021 taacactctg tactttgcag ccaatcagaa ctgacgcagt ctgggtgcta gctgcttcaa
     4081 aagcaaccca caccacactt ttaccatttc catacatcaa ctgctgagaa tatgaaaatg
     4141 cacagtgaca ggttttagga tcctgcttca ggatttcctt ttcctggttt ggtcactaga
     4201 gttggctatt tatctgtttc taaacaatag ctattttatc gaatagttta gagaccacta
     4261 ttaaatattg tgactgatga aggatctgtg aattttttta tatatgttct aagagttacc
     4321 attttgatac cttttaaaaa ccagcagctt tctactatat tcatgtaaga cagcatgaat
     4381 aaaaccattt tttgatacag ggttttattt ggctttaaac tcaggaacca agttaattat
     4441 gccagattga actttgattt ttactacctt ttcaaagata ttttaaaaag tggattacta
     4501 catatgattt ctttggagct tacatttctt tacttcacga attctatgtc actgttacaa
     4561 gtttccattc tgatggcttc tgggcctttg tacctttgtt tttggtgcct tattcctagt
     4621 atgtttctat caccttaatg aggccgcaga tggagtcaga atgtgaaatt acaaataatc
     4681 actggatcca tctactgttt tccatcacct tccccactga tgctctgggc gagagagtga
     4741 tgtgtcactt caactgtgtg taatatgtca gacacgtcct acaataacag gcgtcatatt
     4801 tgtattattt ttagtttact gtagaaaata atgtcaccgc caaaggtgat gagagtcacg
     4861 ttttgtagga tctgttttct tatacttaaa gacagacttc tgctacggta attgccagta
     4921 ttcatggctt cctttctgtg tcagaagaga agggatctgc tttctcttgg ctgatttcac
     4981 atagcattgg taatagacat gcatttctct ttctaaaggg gagtaacttt ttaaaccctt
     5041 cctgatttta gcctggcaat gtaagtgtcc ttaatgtgac tgttttgata attaaaaaaa
     5101 ggtatataat tta
//
