LOCUS       NM_170682               1873 bp    mRNA    linear   PRI 12-DEC-2024
DEFINITION  Homo sapiens purinergic receptor P2X 2 (P2RX2), transcript variant
            1, mRNA.
ACCESSION   NM_170682
VERSION     NM_170682.4
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 1873)
  AUTHORS   Li,Q., Wu,B., Daba,M., Gao,X., Chen,B., Song,G., Zeng,K., Miao,J.,
            Yuan,X., Liu,J., Wang,Z. and Liu,B.
  TITLE     Identification of Calcium Channel-Related Gene P2RX2 for Prognosis
            and Immune Infiltration in Prostate Cancer
  JOURNAL   Dis Markers 2022, 8058160 (2022)
   PUBMED   36246559
  REMARK    GeneRIF: Identification of Calcium Channel-Related Gene P2RX2 for
            Prognosis and Immune Infiltration in Prostate Cancer.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1873)
  AUTHORS   Gasparri,F., Sarkar,D., Bielickaite,S., Poulsen,M.H., Hauser,A.S.
            and Pless,S.A.
  TITLE     P2X2 receptor subunit interfaces are missense variant hotspots,
            where mutations tend to increase apparent ATP affinity
  JOURNAL   Br J Pharmacol 179 (14), 3859-3874 (2022)
   PUBMED   35285517
  REMARK    GeneRIF: P2X2 receptor subunit interfaces are missense variant
            hotspots, where mutations tend to increase apparent ATP affinity.
REFERENCE   3  (bases 1 to 1873)
  AUTHORS   Godoy,P.A., Mennickent,D., Cuchillo-Ibanez,I., Ramirez-Molina,O.,
            Silva-Grecchi,T., Panes-Fernandez,J., Castro,P., Saez-Valero,J. and
            Fuentealba,J.
  TITLE     Increased P2x2 receptors induced by amyloid-beta peptide
            participates in the neurotoxicity in alzheimer's disease
  JOURNAL   Biomed Pharmacother 142, 111968 (2021)
   PUBMED   34343896
  REMARK    GeneRIF: Increased P2x2 receptors induced by amyloid-beta peptide
            participates in the neurotoxicity in alzheimer's disease.
REFERENCE   4  (bases 1 to 1873)
  AUTHORS   Azizi Malamiri,R., Mohammadi Asl,J. and Ghanbari,F.
  TITLE     Identification of a Novel Stop Loss Mutation in P2RX2 Gene in an
            Iranian Family with Autosomal Nonsyndromic Hearing Loss
  JOURNAL   Iran Biomed J 25 (5), 368-373 (2021)
   PUBMED   34425661
  REMARK    GeneRIF: Identification of a Novel Stop Loss Mutation in P2RX2 Gene
            in an Iranian Family with Autosomal Nonsyndromic Hearing Loss
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1873)
  AUTHORS   Chen,X., Abad,C., Chen,Z.Y., Young,J.I., Gurumurthy,C.B., Walz,K.
            and Liu,X.Z.
  TITLE     Generation and characterization of a P2rx2 V60L mouse model for
            DFNA41
  JOURNAL   Hum Mol Genet 30 (11), 985-995 (2021)
   PUBMED   33791800
  REMARK    GeneRIF: Generation and characterization of a P2rx2 V60L mouse
            model for DFNA41.
REFERENCE   6  (bases 1 to 1873)
  AUTHORS   Khakh,B.S., Zhou,X., Sydes,J., Galligan,J.J. and Lester,H.A.
  TITLE     State-dependent cross-inhibition between transmitter-gated cation
            channels
  JOURNAL   Nature 406 (6794), 405-410 (2000)
   PUBMED   10935636
REFERENCE   7  (bases 1 to 1873)
  AUTHORS   Lynch,K.J., Touma,E., Niforatos,W., Kage,K.L., Burgard,E.C., van
            Biesen,T., Kowaluk,E.A. and Jarvis,M.F.
  TITLE     Molecular and functional characterization of human P2X(2) receptors
  JOURNAL   Mol Pharmacol 56 (6), 1171-1181 (1999)
   PUBMED   10570044
REFERENCE   8  (bases 1 to 1873)
  AUTHORS   Lewis,C., Neidhart,S., Holy,C., North,R.A., Buell,G. and
            Surprenant,A.
  TITLE     Coexpression of P2X2 and P2X3 receptor subunits can account for
            ATP-gated currents in sensory neurons
  JOURNAL   Nature 377 (6548), 432-435 (1995)
   PUBMED   7566120
REFERENCE   9  (bases 1 to 1873)
  AUTHORS   Brake,A.J., Wagenbach,M.J. and Julius,D.
  TITLE     New structural motif for ligand-gated ion channels defined by an
            ionotropic ATP receptor
  JOURNAL   Nature 371 (6497), 519-523 (1994)
   PUBMED   7523952
REFERENCE   10 (bases 1 to 1873)
  AUTHORS   Shearer,A.E., Hildebrand,M.S., Odell,A.M. and Smith,R.J.H.
  TITLE     Genetic Hearing Loss Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301607
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC131212.6, AF260426.1,
            AF190822.1 and BC109200.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_170682.3.
            
            Summary: 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].
            
            Transcript Variant: This variant (1) lacks an alternate in-frame
            segment in the 3' end compared to variant 4. The resulting isoform
            (A) has the same N- and C-termini but is shorter compared to
            isoform D.
            
            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 :: AF190822.1, AF260426.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000643471.2/ ENSP00000494644.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4                 AC131212.6         102777-102780
            5-41                AF260426.1         1-37
            42-508              AF190822.1         1-467
            509-509             AC131212.6         104011-104011
            510-1342            AF190822.1         469-1301
            1343-1825           BC109200.2         1399-1881
            1826-1871           AF190822.1         1785-1830
            1872-1873           AC131212.6         106388-106389
FEATURES             Location/Qualifiers
     source          1..1873
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.33"
     gene            1..1873
                     /gene="P2RX2"
                     /gene_synonym="DFNA41; P2X2"
                     /note="purinergic receptor P2X 2"
                     /db_xref="GeneID:22953"
                     /db_xref="HGNC:HGNC:15459"
                     /db_xref="MIM:600844"
     exon            1..214
                     /gene="P2RX2"
                     /gene_synonym="DFNA41; P2X2"
                     /inference="alignment:Splign:2.1.0"
     CDS             42..1457
                     /gene="P2RX2"
                     /gene_synonym="DFNA41; P2X2"
                     /note="isoform A is encoded by transcript variant 1; ATP
                     receptor; P2X purinoceptor 2; P2X Receptor, subunit 2;
                     purinergic receptor P2X, ligand gated ion channel, 2"
                     /codon_start=1
                     /product="P2X purinoceptor 2 isoform A"
                     /protein_id="NP_733782.1"
                     /db_xref="CCDS:CCDS31931.1"
                     /db_xref="GeneID:22953"
                     /db_xref="HGNC:HGNC:15459"
                     /db_xref="MIM:600844"
                     /translation="MAAAQPKYPAGATARRLARGCWSALWDYETPKVIVVRNRRLGVL
                     YRAVQLLILLYFVWYVFIVQKSYQESETGPESSIITKVKGITTSEHKVWDVEEYVKPP
                     EGGSVFSIITRVEATHSQTQGTCPESIRVHNATCLSDADCVAGELDMLGNGLRTGRCV
                     PYYQGPSKTCEVFGWCPVEDGASVSQFLGTMAPNFTILIKNSIHYPKFHFSKGNIADR
                     TDGYLKRCTFHEASDLYCPIFKLGFIVEKAGESFTELAHKGGVIGVIINWDCDLDLPA
                     SECNPKYSFRRLDPKHVPASSGYNFRFAKYYKINGTTTRTLIKAYGIRIDVIVHGQAG
                     KFSLIPTIINLATALTSVGVGSFLCDWILLTFMNKNKVYSHKKFDKVCTPSHPSGSWP
                     VTLARVLGQAPPEPGHRSEDQHPSPPSGQEGQQGAECGPAFPPLRPCPISAPSEQMVD
                     TPASEPAQASTPTDPKGLAQL"
     exon            215..350
                     /gene="P2RX2"
                     /gene_synonym="DFNA41; P2X2"
                     /inference="alignment:Splign:2.1.0"
     exon            351..422
                     /gene="P2RX2"
                     /gene_synonym="DFNA41; P2X2"
                     /inference="alignment:Splign:2.1.0"
     exon            423..498
                     /gene="P2RX2"
                     /gene_synonym="DFNA41; P2X2"
                     /inference="alignment:Splign:2.1.0"
     exon            499..595
                     /gene="P2RX2"
                     /gene_synonym="DFNA41; P2X2"
                     /inference="alignment:Splign:2.1.0"
     exon            596..676
                     /gene="P2RX2"
                     /gene_synonym="DFNA41; P2X2"
                     /inference="alignment:Splign:2.1.0"
     exon            677..815
                     /gene="P2RX2"
                     /gene_synonym="DFNA41; P2X2"
                     /inference="alignment:Splign:2.1.0"
     exon            816..946
                     /gene="P2RX2"
                     /gene_synonym="DFNA41; P2X2"
                     /inference="alignment:Splign:2.1.0"
     exon            947..1037
                     /gene="P2RX2"
                     /gene_synonym="DFNA41; P2X2"
                     /inference="alignment:Splign:2.1.0"
     exon            1038..1103
                     /gene="P2RX2"
                     /gene_synonym="DFNA41; P2X2"
                     /inference="alignment:Splign:2.1.0"
     exon            1104..1873
                     /gene="P2RX2"
                     /gene_synonym="DFNA41; P2X2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1855..1860
                     /regulatory_class="polyA_signal_sequence"
                     /gene="P2RX2"
                     /gene_synonym="DFNA41; P2X2"
                     /note="hexamer: AATAAA"
     polyA_site      1870
                     /gene="P2RX2"
                     /gene_synonym="DFNA41; P2X2"
                     /note="major polyA site"
     polyA_site      1873
                     /gene="P2RX2"
                     /gene_synonym="DFNA41; P2X2"
                     /note="major polyA site"
ORIGIN      
        1 agccctgcag cgccttcctg gaggtggggg ccgcccgcgc catggccgcc gcccagccca
       61 agtaccccgc cggggcgacc gcccggcgcc tggcccgggg ctgctggtcc gccctctggg
      121 actacgagac gcccaaggtg atcgtggtga ggaaccggcg cctgggggtc ctgtaccgcg
      181 ccgtgcagct gctcatcctg ctctacttcg tgtggtacgt attcatcgtg cagaaaagct
      241 accaggagag cgagacgggc cccgagagct ccatcatcac caaggtcaag gggatcacca
      301 cgtccgagca caaagtgtgg gacgtggagg agtacgtgaa gccccccgag gggggcagcg
      361 tgttcagcat catcaccagg gtcgaggcca cccactccca gacccaggga acctgccccg
      421 agagcataag ggtccacaac gccacctgcc tctccgacgc cgactgcgtg gctggggagc
      481 tggacatgct gggaaacggc ctgaggactg ggcgctgtgt gccctattac caggggccct
      541 ccaagacctg cgaggtgttc ggctggtgcc cggtggaaga tggggcctct gtcagccaat
      601 ttctgggtac gatggcccca aatttcacca tcctcatcaa gaacagcatc cactacccca
      661 aattccactt ctccaagggc aacatcgccg accgcacaga cgggtacctg aagcgctgca
      721 cgttccacga ggcctccgac ctctactgcc ccatcttcaa gctgggcttt atcgtggaga
      781 aggctgggga gagcttcaca gagctcgcac acaagggtgg tgtcatcggg gtcattatca
      841 actgggactg tgacctggac ctgcctgcat cggagtgcaa ccccaagtac tccttccgga
      901 ggcttgaccc caagcacgtg cctgcctcgt caggctacaa cttcaggttt gccaaatact
      961 acaagatcaa tggcaccacc acccgcacgc tcatcaaggc ctacgggatc cgcattgacg
     1021 tcattgtgca tggacaggcc gggaagttca gcctgattcc caccattatt aatctggcca
     1081 cagctctgac ttccgtcggg gtgggctcct tcctgtgcga ctggatcttg ctaacattca
     1141 tgaacaaaaa caaggtctac agccataaga aatttgacaa ggtgtgtacg ccgagccacc
     1201 cctcaggtag ctggcctgtg acccttgccc gtgtattggg ccaggcccct cccgaacccg
     1261 gccaccgctc cgaggaccag caccccagcc ctccatcagg ccaggagggc caacaagggg
     1321 cagagtgtgg cccagccttc ccgcccctgc ggccttgccc catctctgcc ccttctgagc
     1381 agatggtgga cactcctgcc tccgagcctg cccaagcctc cacacccaca gaccccaaag
     1441 gtttggctca actctgagct cctttccatc tcactggact gcagacccgg cctggtgggg
     1501 ccagagagtc cccagctagg gacctgcacg tggacgtggg cacctcagta gcggagcatc
     1561 tccacgaaac ggggcaccac aggatccctg tgcaagggct gggggcacgc tctggcccca
     1621 ggcttgtgcc ccaccctggc atacagcccc tgacacctcc tccccagctg gtccctacag
     1681 ggctgctcac ttcccatcac ctctcacagc cacctggaac ccaagccagc tgagctctga
     1741 ggggctctgc tcccggtctt gggccctggg aaccccaccc caccccaccc cacaggcgtt
     1801 gtaaccttga atctgcccag actcttccct tagaagtcac aacatactca gtccaataaa
     1861 cctgtgagca gaa
//
