LOCUS       NM_005446               2727 bp    mRNA    linear   PRI 12-JUN-2024
DEFINITION  Homo sapiens purinergic receptor P2X 6 (P2RX6), transcript variant
            1, mRNA.
ACCESSION   NM_005446
VERSION     NM_005446.5
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 2727)
  AUTHORS   Kottyan,L.C., Davis,B.P., Sherrill,J.D., Liu,K., Rochman,M.,
            Kaufman,K., Weirauch,M.T., Vaughn,S., Lazaro,S., Rupert,A.M.,
            Kohram,M., Stucke,E.M., Kemme,K.A., Magnusen,A., He,H.,
            Dexheimer,P., Chehade,M., Wood,R.A., Pesek,R.D., Vickery,B.P.,
            Fleischer,D.M., Lindbad,R., Sampson,H.A., Mukkada,V.A.,
            Putnam,P.E., Abonia,J.P., Martin,L.J., Harley,J.B. and
            Rothenberg,M.E.
  TITLE     Genome-wide association analysis of eosinophilic esophagitis
            provides insight into the tissue specificity of this allergic
            disease
  JOURNAL   Nat Genet 46 (8), 895-900 (2014)
   PUBMED   25017104
REFERENCE   2  (bases 1 to 2727)
  AUTHORS   Hausmann,R., Bodnar,M., Woltersdorf,R., Wang,H., Fuchs,M.,
            Messemer,N., Qin,Y., Gunther,J., Riedel,T., Grohmann,M., Nieber,K.,
            Schmalzing,G., Rubini,P. and Illes,P.
  TITLE     ATP binding site mutagenesis reveals different subunit
            stoichiometry of functional P2X2/3 and P2X2/6 receptors
  JOURNAL   J Biol Chem 287 (17), 13930-13943 (2012)
   PUBMED   22378790
  REMARK    GeneRIF: one subunit of P2X2 and two subunits of P2X3 form P2X2/3
            heteromeric receptors, whereas two subunits of P2X2 and one subunit
            of P2X6 constitute P2X2/6 receptors
REFERENCE   3  (bases 1 to 2727)
  AUTHORS   Trynka,G., Zhernakova,A., Romanos,J., Franke,L., Hunt,K.A.,
            Turner,G., Bruinenberg,M., Heap,G.A., Platteel,M., Ryan,A.W., de
            Kovel,C., Holmes,G.K., Howdle,P.D., Walters,J.R., Sanders,D.S.,
            Mulder,C.J., Mearin,M.L., Verbeek,W.H., Trimble,V., Stevens,F.M.,
            Kelleher,D., Barisani,D., Bardella,M.T., McManus,R., van Heel,D.A.
            and Wijmenga,C.
  TITLE     Coeliac disease-associated risk variants in TNFAIP3 and REL
            implicate altered NF-kappaB signalling
  JOURNAL   Gut 58 (8), 1078-1083 (2009)
   PUBMED   19240061
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 2727)
  AUTHORS   Luke,M.M., O'Meara,E.S., Rowland,C.M., Shiffman,D., Bare,L.A.,
            Arellano,A.R., Longstreth,W.T. Jr., Lumley,T., Rice,K., Tracy,R.P.,
            Devlin,J.J. and Psaty,B.M.
  TITLE     Gene variants associated with ischemic stroke: the cardiovascular
            health study
  JOURNAL   Stroke 40 (2), 363-368 (2009)
   PUBMED   19023099
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 2727)
  AUTHORS   Palomino-Doza,J., Rahman,T.J., Avery,P.J., Mayosi,B.M., Farrall,M.,
            Watkins,H., Edwards,C.R. and Keavney,B.
  TITLE     Ambulatory blood pressure is associated with polymorphic variation
            in P2X receptor genes
  JOURNAL   Hypertension 52 (5), 980-985 (2008)
   PUBMED   18852390
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 2727)
  AUTHORS   Barrera,N.P., Ormond,S.J., Henderson,R.M., Murrell-Lagnado,R.D. and
            Edwardson,J.M.
  TITLE     Atomic force microscopy imaging demonstrates that P2X2 receptors
            are trimers but that P2X6 receptor subunits do not oligomerize
  JOURNAL   J Biol Chem 280 (11), 10759-10765 (2005)
   PUBMED   15657042
  REMARK    GeneRIF: P2X(2) receptors are trimers, whereas the P2X(6) receptor
            subunits do not form stable oligomers
REFERENCE   7  (bases 1 to 2727)
  AUTHORS   Aschrafi,A., Sadtler,S., Niculescu,C., Rettinger,J. and
            Schmalzing,G.
  TITLE     Trimeric architecture of homomeric P2X2 and heteromeric P2X1+2
            receptor subtypes
  JOURNAL   J Mol Biol 342 (1), 333-343 (2004)
   PUBMED   15313628
REFERENCE   8  (bases 1 to 2727)
  AUTHORS   Glass,R., Loesch,A., Bodin,P. and Burnstock,G.
  TITLE     P2X4 and P2X6 receptors associate with VE-cadherin in human
            endothelial cells
  JOURNAL   Cell Mol Life Sci 59 (5), 870-881 (2002)
   PUBMED   12088286
  REMARK    GeneRIF: Results show that P2X4 and P2X6 receptors are associated
            with VE-cadherin at HUVEC adherens junctions.
REFERENCE   9  (bases 1 to 2727)
  AUTHORS   Khakh,B.S., Burnstock,G., Kennedy,C., King,B.F., North,R.A.,
            Seguela,P., Voigt,M. and Humphrey,P.P.
  TITLE     International union of pharmacology. XXIV. Current status of the
            nomenclature and properties of P2X receptors and their subunits
  JOURNAL   Pharmacol Rev 53 (1), 107-118 (2001)
   PUBMED   11171941
  REMARK    Review article
REFERENCE   10 (bases 1 to 2727)
  AUTHORS   Urano,T., Nishimori,H., Han,H., Furuhata,T., Kimura,Y., Nakamura,Y.
            and Tokino,T.
  TITLE     Cloning of P2XM, a novel human P2X receptor gene regulated by p53
  JOURNAL   Cancer Res 57 (15), 3281-3287 (1997)
   PUBMED   9242461
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC002472.8.
            
            On May 1, 2021 this sequence version replaced NM_005446.4.
            
            Summary: The protein encoded by this gene belongs to the family of
            P2X receptors, which are ATP-gated ion channels and mediate rapid
            and selective permeability to cations. This gene is predominantly
            expressed in skeletal muscle, and regulated by p53. The encoded
            protein is associated with VE-cadherin at the adherens junctions of
            human umbilical vein endothelial cells. Alternative splicing
            results in multiple transcript variants. A related pseudogene,
            which is also located on chromosome 22, has been identified.
            [provided by RefSeq, Apr 2009].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes isoform (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 :: BC033488.1, AB002058.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000413302.7/ ENSP00000416193.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-174               AC002472.8         59314-59487
            175-325             AC002472.8         60091-60241
            326-397             AC002472.8         62138-62209
            398-473             AC002472.8         66825-66900
            474-567             AC002472.8         67091-67184
            568-648             AC002472.8         67267-67347
            649-790             AC002472.8         67424-67565
            791-900             AC002472.8         67658-67767
            901-994             AC002472.8         69954-70047
            995-1060            AC002472.8         70160-70225
            1061-1138           AC002472.8         70401-70478
            1139-2727           AC002472.8         70569-72157
FEATURES             Location/Qualifiers
     source          1..2727
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     gene            1..2727
                     /gene="P2RX6"
                     /gene_synonym="P2RXL1; P2X6; P2XM"
                     /note="purinergic receptor P2X 6"
                     /db_xref="GeneID:9127"
                     /db_xref="HGNC:HGNC:8538"
                     /db_xref="MIM:608077"
     exon            1..174
                     /gene="P2RX6"
                     /gene_synonym="P2RXL1; P2X6; P2XM"
                     /inference="alignment:Splign:2.1.0"
     CDS             11..1336
                     /gene="P2RX6"
                     /gene_synonym="P2RXL1; P2X6; P2XM"
                     /note="isoform 1 is encoded by transcript variant 1;
                     purinergic receptor P2X-like 1, orphan receptor; skeletal
                     muscle-expressed P2X; ATP receptor; purinoceptor P2X6; P2X
                     purinoceptor 6; purinoreceptor P2X6; purinergic receptor
                     P2X, ligand gated ion channel, 6"
                     /codon_start=1
                     /product="P2X purinoceptor 6 isoform 1"
                     /protein_id="NP_005437.2"
                     /db_xref="CCDS:CCDS13788.2"
                     /db_xref="GeneID:9127"
                     /db_xref="HGNC:HGNC:8538"
                     /db_xref="MIM:608077"
                     /translation="MCPQLAGAGSMGSPGATTGWGLLDYKTEKYVMTRNWRVGALQRL
                     LQFGIVVYVVGWALLAKKGYQERDLEPQFSIITKLKGVSVTQIKELGNRLWDVADFVK
                     PPQGENVFFLVTNFLVTPAQVQGRCPEHPSVPLANCWVDEDCPEGEGGTHSHGVKTGQ
                     CVVFNGTHRTCEIWSWCPVESGVVPSRPLLAQAQNFTLFIKNTVTFSKFNFSKSNALE
                     TWDPTYFKHCRYEPQFSPYCPVFRIGDLVAKAGGTFEDLALLGGSVGIRVHWDCDLDT
                     GDSGCWPHYSFQLQEKSYNFRTATHWWEQPGVEARTLLKLYGIRFDILVTGQAGKFGL
                     IPTAVTLGTGAAWLGVVTFFCDLLLLYVDREAHFYWRTKYEEAKAPKATANSVWRELA
                     LASQARLAECLRRSSAPAPTATAAGSQTQTPGWPCPSSDTHLPTHSGSL"
     exon            175..325
                     /gene="P2RX6"
                     /gene_synonym="P2RXL1; P2X6; P2XM"
                     /inference="alignment:Splign:2.1.0"
     exon            326..397
                     /gene="P2RX6"
                     /gene_synonym="P2RXL1; P2X6; P2XM"
                     /inference="alignment:Splign:2.1.0"
     exon            398..473
                     /gene="P2RX6"
                     /gene_synonym="P2RXL1; P2X6; P2XM"
                     /inference="alignment:Splign:2.1.0"
     exon            474..567
                     /gene="P2RX6"
                     /gene_synonym="P2RXL1; P2X6; P2XM"
                     /inference="alignment:Splign:2.1.0"
     exon            568..648
                     /gene="P2RX6"
                     /gene_synonym="P2RXL1; P2X6; P2XM"
                     /inference="alignment:Splign:2.1.0"
     exon            649..790
                     /gene="P2RX6"
                     /gene_synonym="P2RXL1; P2X6; P2XM"
                     /inference="alignment:Splign:2.1.0"
     exon            791..900
                     /gene="P2RX6"
                     /gene_synonym="P2RXL1; P2X6; P2XM"
                     /inference="alignment:Splign:2.1.0"
     exon            901..994
                     /gene="P2RX6"
                     /gene_synonym="P2RXL1; P2X6; P2XM"
                     /inference="alignment:Splign:2.1.0"
     exon            995..1060
                     /gene="P2RX6"
                     /gene_synonym="P2RXL1; P2X6; P2XM"
                     /inference="alignment:Splign:2.1.0"
     exon            1061..1138
                     /gene="P2RX6"
                     /gene_synonym="P2RXL1; P2X6; P2XM"
                     /inference="alignment:Splign:2.1.0"
     exon            1139..2727
                     /gene="P2RX6"
                     /gene_synonym="P2RXL1; P2X6; P2XM"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2709..2714
                     /regulatory_class="polyA_signal_sequence"
                     /gene="P2RX6"
                     /gene_synonym="P2RXL1; P2X6; P2XM"
                     /note="hexamer: AGTAAA"
     polyA_site      2727
                     /gene="P2RX6"
                     /gene_synonym="P2RXL1; P2X6; P2XM"
                     /note="major polyA site"
ORIGIN      
        1 atgctgactc atgtgcccgc agctagcagg agctggcagc atgggctccc caggggctac
       61 gacaggctgg gggcttctgg attataagac ggagaagtat gtgatgacca ggaactggcg
      121 ggtgggcgcc ctgcagaggc tgctgcagtt tgggatcgtg gtctatgtgg tagggtgggc
      181 tctcctcgcc aaaaaaggct accaggagcg ggacctggaa ccccagtttt ccatcatcac
      241 caaactcaaa ggggtttccg tcactcagat caaggagctt ggaaaccggc tgtgggatgt
      301 ggccgacttc gtgaagccac ctcagggaga gaacgtgttc ttcttggtga ccaacttcct
      361 tgtgacgcca gcccaagttc agggcagatg cccagagcac ccgtccgtcc cactggctaa
      421 ctgctgggtc gacgaggact gccccgaagg ggagggaggc acacacagcc acggtgtaaa
      481 aacaggccag tgtgtggtgt tcaatgggac ccacaggacc tgtgagatct ggagttggtg
      541 ccccgtggag agtggcgttg tgccctcgag gcccctgctg gcccaggccc agaacttcac
      601 actgttcatc aaaaacacag tcaccttcag caagttcaac ttctctaagt ccaatgcctt
      661 ggagacctgg gaccccacct attttaagca ctgccgctat gaaccacaat tcagccccta
      721 ctgtcccgtg ttccgcattg gggacctcgt ggccaaggct ggagggacct tcgaggacct
      781 ggcgttgctg ggtggctctg taggcatcag agttcactgg gattgtgacc tggacaccgg
      841 ggactctggc tgctggcctc actactcctt ccagctgcag gagaagagct acaacttcag
      901 gacagccact cactggtggg agcaaccggg tgtggaggcc cgcaccctgc tcaagctcta
      961 tggaatccgc ttcgacatcc tcgtcaccgg gcaggcaggg aagttcgggc tcatccccac
     1021 ggccgtcaca ctgggcaccg gggcagcttg gctgggcgtg gtcacctttt tctgtgacct
     1081 gctactgctg tatgtggata gagaagccca tttctactgg aggacaaagt atgaggaggc
     1141 caaggccccg aaagcaaccg ccaactctgt gtggagggag ctggcccttg catcccaagc
     1201 ccgactggcc gagtgcctca gacggagctc agcacctgca cccacggcca ctgctgctgg
     1261 gagtcagaca cagacaccag gatggccctg tccaagttct gacacccact tgccaaccca
     1321 ttccgggagc ctgtagccgt tccctgctgg ttgagagttg ggggctggga agggcggggc
     1381 cctgcctggg gatctcaagg atgaggcccc agcatggagg attgggggta gaattccacc
     1441 cttgaacccc agcagacagt ccctcccctg actcccacct tggtagggtg ctgcctcagg
     1501 gagccataga agtcggctgt gttttgagac ggcgacagaa cctgacccgt ggagactggg
     1561 agagcccagc aggcacctgt attgcagggc tccgactgca tgtggcaggg gctcctgctg
     1621 cgtctgggcc tggaggtctc tctcccagtg ctctgtcccc agtgttccta gcagaggtat
     1681 gcttaccagc tgtcagcaca gaccctcctg ctgcctgggt cctggccctc ctcccccatc
     1741 tgcaccccca tcataggtag agaccccacc ctcccatcgg tcctacatgg ggctgtgcag
     1801 ctggagccaa aaaggcaagg tagaaagagg agtgatgggg gagggggatt gtttcagctt
     1861 ctctggtgct gtgatgcccc aggagagtcc taatctaggg aatggggtgg agtaggcaga
     1921 taatccacct ccctatcccc caggcaaggg cggagcatgt gtcttgggcc cacacctgct
     1981 tagtttatga ggaccggctg ctttccagtg gtagcccttt tgccatggag gtctgggaga
     2041 gagagcagag ggcggcaggg ctaagttggt gatcattggg ttcttcagga ccttctatat
     2101 ccctcctcgg taacccccca gcccaacccc ttggaatctt tcctccaggc ttcctgagag
     2161 ccctgggggt gggaggctgt gggaggctgt acatctgaaa ttcacttcag tccaagtcat
     2221 acctaggaag ctgtctgggc agctgctcga gggaggccct ggctctgatc ccaggctgga
     2281 tggagtggct ggaaggaatg gttccaaaca acaccaccga gatctccctc aggctggcca
     2341 ggttttgcag ctggaattct cctcttggtc ccagggcggg gcagggaatt ctaagtgtcc
     2401 accccaggga ggcaaggggc tgctttccac tgtgggtacc tggtgatcag ggcaagctgt
     2461 ggagggccag gggtggggct gagactgggc tgacatctag aatcacctgc cacctggagc
     2521 ctcagtaaaa tgcctggggt ccctgctgcc tctcaatctc cagagccatg tccatgggga
     2581 ggtgggctct gaagggcgaa ggtgggagag cagggcccct gaggcctggg tatccaagga
     2641 ggggcacgtg cacctgattc tccttggggc ccagaggaag ctgatgtcat ggctggacaa
     2701 agtcacggag taaagccagc aaagcca
//
