LOCUS       NM_002560               1760 bp    mRNA    linear   PRI 15-JUL-2024
DEFINITION  Homo sapiens purinergic receptor P2X 4 (P2RX4), transcript variant
            2, mRNA.
ACCESSION   NM_002560
VERSION     NM_002560.3
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 1760)
  AUTHORS   Srisutha,J., Watari,I., Akakura,M., Watanabe,M., Changsiripun,C.
            and Ono,T.
  TITLE     P2X7R and P2X4R expression of mice submandibular gland in high-fat
            diet/streptozotocin-induced type 2 diabetes
  JOURNAL   Sci Rep 14 (1), 10855 (2024)
   PUBMED   38740782
  REMARK    GeneRIF: P2X7R and P2X4R expression of mice submandibular gland in
            high-fat diet/streptozotocin-induced type 2 diabetes.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1760)
  AUTHORS   Gaff,J., Octaviana,F., Jackaman,C., Kamerman,P., Papadimitriou,J.,
            Lee,S., Mountford,J. and Price,P.
  TITLE     Expression in skin biopsies supports genetic evidence linking
            CAMKK2, P2X7R and P2X4R with HIV-associated sensory neuropathy
  JOURNAL   J Neurovirol 29 (3), 241-251 (2023)
   PUBMED   37166584
  REMARK    GeneRIF: Expression in skin biopsies supports genetic evidence
            linking CAMKK2, P2X7R and P2X4R with HIV-associated sensory
            neuropathy.
REFERENCE   3  (bases 1 to 1760)
  AUTHORS   Schmitt,M., Ceteci,F., Gupta,J., Pesic,M., Bottger,T.W.,
            Nicolas,A.M., Kennel,K.B., Engel,E., Schewe,M., Callak Kirisozu,A.,
            Petrocelli,V., Dabiri,Y., Varga,J., Ramakrishnan,M., Karimova,M.,
            Ablasser,A., Sato,T., Arkan,M.C., de Sauvage,F.J. and Greten,F.R.
  TITLE     Colon tumour cell death causes mTOR dependence by paracrine P2X4
            stimulation
  JOURNAL   Nature 612 (7939), 347-353 (2022)
   PUBMED   36385525
  REMARK    GeneRIF: Colon tumour cell death causes mTOR dependence by
            paracrine P2X4 stimulation.
REFERENCE   4  (bases 1 to 1760)
  AUTHORS   Wu,S.T., Han,J.R., Yao,N., Li,Y.L., Zhang,F., Shi,Y., Shi,F.D. and
            Li,Z.G.
  TITLE     Activation of P2X4 receptor exacerbates acute brain injury after
            intracerebral hemorrhage
  JOURNAL   CNS Neurosci Ther 28 (7), 1008-1018 (2022)
   PUBMED   35352488
  REMARK    GeneRIF: Activation of P2X4 receptor exacerbates acute brain injury
            after intracerebral hemorrhage.
REFERENCE   5  (bases 1 to 1760)
  AUTHORS   Schneider,S., Merfort,I., Idzko,M. and Zech,A.
  TITLE     Blocking P2X purinoceptor 4 signalling alleviates cigarette smoke
            induced pulmonary inflammation
  JOURNAL   Respir Res 23 (1), 148 (2022)
   PUBMED   35676684
  REMARK    GeneRIF: Blocking P2X purinoceptor 4 signalling alleviates
            cigarette smoke induced pulmonary inflammation.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1760)
  AUTHORS   Yamamoto,K., Korenaga,R., Kamiya,A. and Ando,J.
  TITLE     Fluid shear stress activates Ca(2+) influx into human endothelial
            cells via P2X4 purinoceptors
  JOURNAL   Circ Res 87 (5), 385-391 (2000)
   PUBMED   10969036
REFERENCE   7  (bases 1 to 1760)
  AUTHORS   Yamamoto,K., Korenaga,R., Kamiya,A., Qi,Z., Sokabe,M. and Ando,J.
  TITLE     P2X(4) receptors mediate ATP-induced calcium influx in human
            vascular endothelial cells
  JOURNAL   Am J Physiol Heart Circ Physiol 279 (1), H285-H292 (2000)
   PUBMED   10899068
REFERENCE   8  (bases 1 to 1760)
  AUTHORS   Carpenter,D., Meadows,H.J., Brough,S., Chapman,G., Clarke,C.,
            Coldwell,M., Davis,R., Harrison,D., Meakin,J., McHale,M.,
            Rice,S.Q., Tomlinson,W.J., Wood,M. and Sanger,G.J.
  TITLE     Site-specific splice variation of the human P2X4 receptor
  JOURNAL   Neurosci Lett 273 (3), 183-186 (1999)
   PUBMED   10515189
REFERENCE   9  (bases 1 to 1760)
  AUTHORS   Garcia-Guzman,M., Stuhmer,W. and Soto,F.
  TITLE     Molecular characterization and pharmacological properties of the
            human P2X3 purinoceptor
  JOURNAL   Brain Res Mol Brain Res 47 (1-2), 59-66 (1997)
   PUBMED   9221902
REFERENCE   10 (bases 1 to 1760)
  AUTHORS   Garcia-Guzman,M., Soto,F., Gomez-Hernandez,J.M., Lund,P.E. and
            Stuhmer,W.
  TITLE     Characterization of recombinant human P2X4 receptor reveals
            pharmacological differences to the rat homologue
  JOURNAL   Mol Pharmacol 51 (1), 109-118 (1997)
   PUBMED   9016352
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC069209.38.
            
            On Jun 2, 2019 this sequence version replaced NM_002560.2.
            
            Summary: The product of this gene belongs to the family of
            purinoceptors for ATP. This receptor functions as a ligand-gated
            ion channel with high calcium permeability. The main
            pharmacological distinction between the members of the purinoceptor
            family is the relative sensitivity to the antagonists suramin and
            PPADS. The product of this gene has the lowest sensitivity for
            these antagonists. Multiple alternatively spliced transcript
            variants, some protein-coding and some not protein-coding, have
            been found for this gene. [provided by RefSeq, Feb 2012].
            
            Transcript Variant: This variant (2) lacks an in-frame exon in the
            5' coding region, compared to variant 1. The resulting isoform (2)
            lacks an internal segment, compared to isoform 1.
            
            Sequence Note: Translation provided for the transcript variants two
            and three is predicted. The start codon is the same as in the
            predominant transcript variant (1).
            
            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 :: SRR3476690.991005.1,
                                           SRR3476690.749348.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000337233.9/ ENSP00000336607.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-170               AC069209.38        43924-44093
            171-318             AC069209.38        50929-51076
            319-390             AC069209.38        55708-55779
            391-463             AC069209.38        55889-55961
            464-560             AC069209.38        56742-56838
            561-641             AC069209.38        62328-62408
            642-783             AC069209.38        62520-62661
            784-920             AC069209.38        62758-62894
            921-1014            AC069209.38        66209-66302
            1015-1080           AC069209.38        66406-66471
            1081-1176           AC069209.38        66792-66887
            1177-1760           AC069209.38        67318-67901
FEATURES             Location/Qualifiers
     source          1..1760
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     gene            1..1760
                     /gene="P2RX4"
                     /gene_synonym="P2X4; P2X4R"
                     /note="purinergic receptor P2X 4"
                     /db_xref="GeneID:5025"
                     /db_xref="HGNC:HGNC:8535"
                     /db_xref="MIM:600846"
     exon            1..170
                     /gene="P2RX4"
                     /gene_synonym="P2X4; P2X4R"
                     /inference="alignment:Splign:2.1.0"
     CDS             37..1203
                     /gene="P2RX4"
                     /gene_synonym="P2X4; P2X4R"
                     /note="isoform 2 is encoded by transcript variant 2;
                     purinoceptor P2X4; P2X receptor, subunit 4; P2X
                     purinoceptor 4; ATP receptor; ATP-gated cation channel
                     protein; purinergic receptor P2X4; purinergic receptor
                     P2X, ligand gated ion channel, 4"
                     /codon_start=1
                     /product="P2X purinoceptor 4 isoform 2"
                     /protein_id="NP_002551.2"
                     /db_xref="CCDS:CCDS9214.1"
                     /db_xref="GeneID:5025"
                     /db_xref="HGNC:HGNC:8535"
                     /db_xref="MIM:600846"
                     /translation="MAGCCAALAAFLFEYDTPRIVLIRSRKVGLMNRAVQLLILAYVI
                     GWVFVWEKGYQETDSVVSSVTTKVKGVAVTNTSKLGFRIWDVADYVIPAQEENSLFVM
                     TNVILTMNQTQGLCPEIPDATTVCKSDASCTAGSAGTHSNGVSTGRCVAFNGSVKTCE
                     VAAWCPVEDDTHVPQPAFLKAAENFTLLVKNNIWYPKFNFSKRNILPNITTTYLKSCI
                     YDAKTDPFCPIFRLGKIVENAGHSFQDMAVEGGIMGIQVNWDCNLDRAASLCLPRYSF
                     RRLDTRDVEHNVSPGYNFRFAKYYRDLAGNEQRTLIKAYGIRFDIIVFGKAGKFDIIP
                     TMINIGSGLALLGMATVLCDIIVLYCMKKRLYYREKKYKYVEDYEQGLASELDQ"
     exon            171..318
                     /gene="P2RX4"
                     /gene_synonym="P2X4; P2X4R"
                     /inference="alignment:Splign:2.1.0"
     exon            319..390
                     /gene="P2RX4"
                     /gene_synonym="P2X4; P2X4R"
                     /inference="alignment:Splign:2.1.0"
     exon            391..463
                     /gene="P2RX4"
                     /gene_synonym="P2X4; P2X4R"
                     /inference="alignment:Splign:2.1.0"
     exon            464..560
                     /gene="P2RX4"
                     /gene_synonym="P2X4; P2X4R"
                     /inference="alignment:Splign:2.1.0"
     exon            561..641
                     /gene="P2RX4"
                     /gene_synonym="P2X4; P2X4R"
                     /inference="alignment:Splign:2.1.0"
     exon            642..783
                     /gene="P2RX4"
                     /gene_synonym="P2X4; P2X4R"
                     /inference="alignment:Splign:2.1.0"
     exon            784..920
                     /gene="P2RX4"
                     /gene_synonym="P2X4; P2X4R"
                     /inference="alignment:Splign:2.1.0"
     exon            921..1014
                     /gene="P2RX4"
                     /gene_synonym="P2X4; P2X4R"
                     /inference="alignment:Splign:2.1.0"
     exon            1015..1080
                     /gene="P2RX4"
                     /gene_synonym="P2X4; P2X4R"
                     /inference="alignment:Splign:2.1.0"
     exon            1081..1176
                     /gene="P2RX4"
                     /gene_synonym="P2X4; P2X4R"
                     /inference="alignment:Splign:2.1.0"
     exon            1177..1760
                     /gene="P2RX4"
                     /gene_synonym="P2X4; P2X4R"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1740..1745
                     /regulatory_class="polyA_signal_sequence"
                     /gene="P2RX4"
                     /gene_synonym="P2X4; P2X4R"
                     /note="hexamer: ATTAAA"
     polyA_site      1760
                     /gene="P2RX4"
                     /gene_synonym="P2X4; P2X4R"
                     /note="major polyA site"
ORIGIN      
        1 agaccgacta ggggactggg agcgggcggc gcggccatgg cgggctgctg cgccgcgctg
       61 gcggccttcc tgttcgagta cgacacgccg cgcatcgtgc tcatccgcag ccgcaaagtg
      121 gggctcatga accgcgccgt gcaactgctc atcctggcct acgtcatcgg gtgggtgttt
      181 gtgtgggaaa agggctacca ggaaactgac tccgtggtca gctccgttac gaccaaggtc
      241 aagggcgtgg ctgtgaccaa cacttctaaa cttggattcc ggatctggga tgtggcggat
      301 tatgtgatac cagctcagga ggaaaactcc ctcttcgtca tgaccaacgt gatcctcacc
      361 atgaaccaga cacagggcct gtgccccgag attccagatg cgaccactgt gtgtaaatca
      421 gatgccagct gtactgccgg ctctgccggc acccacagca acggagtctc aacaggcagg
      481 tgcgtagctt tcaacgggtc tgtcaagacg tgtgaggtgg cggcctggtg cccggtggag
      541 gatgacacac acgtgccaca acctgctttt ttaaaggctg cagaaaactt cactcttttg
      601 gttaagaaca acatctggta tcccaaattt aatttcagca agaggaatat ccttcccaac
      661 atcaccacta cttacctcaa gtcgtgcatt tatgatgcta aaacagatcc cttctgcccc
      721 atattccgtc ttggcaaaat agtggagaac gcaggacaca gtttccagga catggccgtg
      781 gagggaggca tcatgggcat ccaggtcaac tgggactgca acctggacag agccgcctcc
      841 ctctgcttgc ccaggtactc cttccgccgc ctcgatacac gggacgttga gcacaacgta
      901 tctcctggct acaatttcag gtttgccaag tactacagag acctggctgg caacgagcag
      961 cgcacgctca tcaaggccta tggcatccgc ttcgacatca ttgtgtttgg gaaggcaggg
     1021 aaatttgaca tcatccccac tatgatcaac atcggctctg gcctggcact gctaggcatg
     1081 gcgaccgtgc tgtgtgacat catagtcctc tactgcatga agaaaagact ctactatcgg
     1141 gagaagaaat ataaatatgt ggaagattac gagcagggtc ttgctagtga gctggaccag
     1201 tgaggcctac cccacacctg ggctctccac agccccatca aagaacagag aggaggagga
     1261 gggagaaatg gccaccacat caccccagag aaatttctgg aatctgattg agtctccact
     1321 ccacaagcac tcagggttcc ccagcagctc ctgtgtgttg tgtgcaggat ctgtttgccc
     1381 actcggccca ggaggtcagc agtctgttct tggctgggtc aactctgctt ttcccgcaac
     1441 ctggggttgt cgggggagcg ctggcccgac gcagtggcac tgctgtggct ttcagggctg
     1501 gagctggctt tgctcagaag cctcctgtct ccagctctct ccaggacagg cccagtcctc
     1561 tgaggcacgg cggctctgtt caagcacttt atgcggcagg ggaggccgcc tggctgcagt
     1621 cactagactt gtagcaggcc tgggctgcag gcttcccccc gaccattccc tgcagccatg
     1681 cggcagagct ggcatttctc ctcagagaag cgctgtgcta aggtgatcga ggaccagaca
     1741 ttaaagcgtg attttcttaa
//
