LOCUS       NM_001286123            2498 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens solute carrier family 17 member 2 (SLC17A2),
            transcript variant 1, mRNA.
ACCESSION   NM_001286123 XM_005248783 XM_005248784
VERSION     NM_001286123.3
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 2498)
  AUTHORS   Dong,Z., Zhou,J., Xu,X., Jiang,S., Li,Y., Zhao,D., Yang,C., Ma,Y.,
            Wang,Y., He,H., Ji,H., Zhang,J., Yuan,Z., Yang,Y., Wang,X.,
            Pang,Y., Jin,L., Zou,H. and Wang,J.
  TITLE     Genetic variants in two pathways influence serum urate levels and
            gout risk: a systematic pathway analysis
  JOURNAL   Sci Rep 8 (1), 3848 (2018)
   PUBMED   29497127
  REMARK    GeneRIF: a novel gout-associated gene, SLC17A2, was identified (OR
            = 0.83, PFDR = 0.017).The common variant rs2071299 is an expression
            associated SNP and SLC17A2 mRNA expression is modified by different
            genotypes of this variant. the mRNA expression and protein levels
            of SLC17A2 between healthy individuals and hyperuricemia patients
            were significantly different
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2498)
  AUTHORS   Koller,D.L., Imel,E.A., Lai,D., Padgett,L.R., Acton,D., Gray,A.,
            Peacock,M., Econs,M.J. and Foroud,T.
  TITLE     Genome-wide association study of serum iron phenotypes in
            premenopausal women of European descent
  JOURNAL   Blood Cells Mol Dis 57, 50-53 (2016)
   PUBMED   26852655
  REMARK    GeneRIF: Association was detected in premenopausal women of
            European descent between percent iron saturation and variants in
            the chromosome 6 region containing both HFE and SLC17A2 genes.
REFERENCE   3  (bases 1 to 2498)
  AUTHORS   He,M., Xu,M., Zhang,B., Liang,J., Chen,P., Lee,J.Y., Johnson,T.A.,
            Li,H., Yang,X., Dai,J., Liang,L., Gui,L., Qi,Q., Huang,J., Li,Y.,
            Adair,L.S., Aung,T., Cai,Q., Cheng,C.Y., Cho,M.C., Cho,Y.S.,
            Chu,M., Cui,B., Gao,Y.T., Go,M.J., Gu,D., Gu,W., Guo,H., Hao,Y.,
            Hong,J., Hu,Z., Hu,Y., Huang,J., Hwang,J.Y., Ikram,M.K., Jin,G.,
            Kang,D.H., Khor,C.C., Kim,B.J., Kim,H.T., Kubo,M., Lee,J., Lee,J.,
            Lee,N.R., Li,R., Li,J., Liu,J., Longe,J., Lu,W., Lu,X., Miao,X.,
            Okada,Y., Ong,R.T., Qiu,G., Seielstad,M., Sim,X., Song,H.,
            Takeuchi,F., Tanaka,T., Taylor,P.R., Wang,L., Wang,W., Wang,Y.,
            Wu,C., Wu,Y., Xiang,Y.B., Yamamoto,K., Yang,H., Liao,M., Yokota,M.,
            Young,T., Zhang,X., Kato,N., Wang,Q.K., Zheng,W., Hu,F.B., Lin,D.,
            Shen,H., Teo,Y.Y., Mo,Z., Wong,T.Y., Lin,X., Mohlke,K.L., Ning,G.,
            Tsunoda,T., Han,B.G., Shu,X.O., Tai,E.S., Wu,T. and Qi,L.
  TITLE     Meta-analysis of genome-wide association studies of adult height in
            East Asians identifies 17 novel loci
  JOURNAL   Hum Mol Genet 24 (6), 1791-1800 (2015)
   PUBMED   25429064
REFERENCE   4  (bases 1 to 2498)
  AUTHORS   Simino,J., Shi,G., Bis,J.C., Chasman,D.I., Ehret,G.B., Gu,X.,
            Guo,X., Hwang,S.J., Sijbrands,E., Smith,A.V., Verwoert,G.C.,
            Bragg-Gresham,J.L., Cadby,G., Chen,P., Cheng,C.Y., Corre,T., de
            Boer,R.A., Goel,A., Johnson,T., Khor,C.C., Lluis-Ganella,C.,
            Luan,J., Lyytikainen,L.P., Nolte,I.M., Sim,X., Sober,S., van der
            Most,P.J., Verweij,N., Zhao,J.H., Amin,N., Boerwinkle,E.,
            Bouchard,C., Dehghan,A., Eiriksdottir,G., Elosua,R., Franco,O.H.,
            Gieger,C., Harris,T.B., Hercberg,S., Hofman,A., James,A.L.,
            Johnson,A.D., Kahonen,M., Khaw,K.T., Kutalik,Z., Larson,M.G.,
            Launer,L.J., Li,G., Liu,J., Liu,K., Morrison,A.C., Navis,G.,
            Ong,R.T., Papanicolau,G.J., Penninx,B.W., Psaty,B.M., Raffel,L.J.,
            Raitakari,O.T., Rice,K., Rivadeneira,F., Rose,L.M., Sanna,S.,
            Scott,R.A., Siscovick,D.S., Stolk,R.P., Uitterlinden,A.G.,
            Vaidya,D., van der Klauw,M.M., Vasan,R.S., Vithana,E.N., Volker,U.,
            Volzke,H., Watkins,H., Young,T.L., Aung,T., Bochud,M., Farrall,M.,
            Hartman,C.A., Laan,M., Lakatta,E.G., Lehtimaki,T., Loos,R.J.,
            Lucas,G., Meneton,P., Palmer,L.J., Rettig,R., Snieder,H., Tai,E.S.,
            Teo,Y.Y., van der Harst,P., Wareham,N.J., Wijmenga,C., Wong,T.Y.,
            Fornage,M., Gudnason,V., Levy,D., Palmas,W., Ridker,P.M.,
            Rotter,J.I., van Duijn,C.M., Witteman,J.C., Chakravarti,A. and
            Rao,D.C.
  CONSRTM   LifeLines Cohort Study
  TITLE     Gene-age interactions in blood pressure regulation: a large-scale
            investigation with the CHARGE, Global BPgen, and ICBP Consortia
  JOURNAL   Am J Hum Genet 95 (1), 24-38 (2014)
   PUBMED   24954895
REFERENCE   5  (bases 1 to 2498)
  AUTHORS   Stark,K., Reinhard,W., Grassl,M., Erdmann,J., Schunkert,H.,
            Illig,T. and Hengstenberg,C.
  TITLE     Common polymorphisms influencing serum uric acid levels contribute
            to susceptibility to gout, but not to coronary artery disease
  JOURNAL   PLoS One 4 (11), e7729 (2009)
   PUBMED   19890391
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2498)
  AUTHORS   Ruddy,D.A., Kronmal,G.S., Lee,V.K., Mintier,G.A., Quintana,L.,
            Domingo,R. Jr., Meyer,N.C., Irrinki,A., McClelland,E.E., Fullan,A.,
            Mapa,F.A., Moore,T., Thomas,W., Loeb,D.B., Harmon,C.,
            Tsuchihashi,Z., Wolff,R.K., Schatzman,R.C. and Feder,J.N.
  TITLE     A 1.1-Mb transcript map of the hereditary hemochromatosis locus
  JOURNAL   Genome Res 7 (5), 441-456 (1997)
   PUBMED   9149941
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            U91328.1 and AL138726.12.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 27, 2019 this sequence version replaced NM_001286123.2.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.869639.1,
                                           SRR14038191.4538367.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN04284274 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000377850.8/ ENSP00000367081.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-415               U91328.1           210368-210782
            416-526             AL138726.12        1624-1734
            527-738             AL138726.12        3597-3808
            739-972             AL138726.12        6091-6324
            973-1060            AL138726.12        6410-6497
            1061-1147           AL138726.12        8930-9016
            1148-1266           AL138726.12        10416-10534
            1267-1428           AL138726.12        10657-10818
            1429-1561           AL138726.12        11635-11767
            1562-1709           AL138726.12        11857-12004
            1710-1800           AL138726.12        12833-12923
            1801-2498           AL138726.12        14052-14749
FEATURES             Location/Qualifiers
     source          1..2498
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.2"
     gene            1..2498
                     /gene="SLC17A2"
                     /gene_synonym="NPT3"
                     /note="solute carrier family 17 member 2"
                     /db_xref="GeneID:10246"
                     /db_xref="HGNC:HGNC:10930"
                     /db_xref="MIM:611049"
     exon            1..415
                     /gene="SLC17A2"
                     /gene_synonym="NPT3"
                     /inference="alignment:Splign:2.1.0"
     exon            416..526
                     /gene="SLC17A2"
                     /gene_synonym="NPT3"
                     /inference="alignment:Splign:2.1.0"
     CDS             499..1935
                     /gene="SLC17A2"
                     /gene_synonym="NPT3"
                     /note="isoform a is encoded by transcript variant 1;
                     sodium phosphate transporter 3; solute carrier family 17
                     (vesicular glutamate transporter), member 2; Na(+)/PI
                     cotransporter 3; sodium-dependent phosphate transport
                     protein 3; sodium/phosphate cotransporter 3"
                     /codon_start=1
                     /product="sodium-dependent phosphate transport protein 3
                     isoform a"
                     /protein_id="NP_001273052.1"
                     /db_xref="CCDS:CCDS69060.1"
                     /db_xref="GeneID:10246"
                     /db_xref="HGNC:HGNC:10930"
                     /db_xref="MIM:611049"
                     /translation="MDGKPATRKGPDFCSLRYGLALIMHFSNFTMITQRVSLSIAIIA
                     MVNTTQQQGLSNASTEGPVADAFNNSSISIKEFDTKASVYQWSPETQGIIFSSINYGI
                     ILTLIPSGYLAGIFGAKKMLGAGLLISSLLTLFTPLAADFGVILVIMVRTVQGMAQGM
                     AWTGQFTIWAKWAPPLERSKLTTIAGSGSAFGSFIILCVGGLISQALSWPFIFYIFGS
                     TGCVCCLLWFTVIYDDPMHHPCISVREKEHILSSLAQQPSSPGRAVPIKAMVTCLPLW
                     AIFLGFFSHFWLCTIILTYLPTYISTLLHVNIRDSGVLSSLPFIAAASCTILGGQLAD
                     FLLSRNLLRLITVRKLFSSLGLLLPSICAVALPFVASSYVITIILLILIPGTSNLCDS
                     GFIINTLDIAPRYASFLMGISRGFGLIAGIISSTATGFLISQDFESGWRNVFFLSAAV
                     NMFGLVFYLTFGQAELQDWAKERTLTRL"
     exon            527..738
                     /gene="SLC17A2"
                     /gene_synonym="NPT3"
                     /inference="alignment:Splign:2.1.0"
     exon            739..972
                     /gene="SLC17A2"
                     /gene_synonym="NPT3"
                     /inference="alignment:Splign:2.1.0"
     exon            973..1060
                     /gene="SLC17A2"
                     /gene_synonym="NPT3"
                     /inference="alignment:Splign:2.1.0"
     exon            1061..1147
                     /gene="SLC17A2"
                     /gene_synonym="NPT3"
                     /inference="alignment:Splign:2.1.0"
     exon            1148..1266
                     /gene="SLC17A2"
                     /gene_synonym="NPT3"
                     /inference="alignment:Splign:2.1.0"
     exon            1267..1428
                     /gene="SLC17A2"
                     /gene_synonym="NPT3"
                     /inference="alignment:Splign:2.1.0"
     exon            1429..1561
                     /gene="SLC17A2"
                     /gene_synonym="NPT3"
                     /inference="alignment:Splign:2.1.0"
     exon            1562..1709
                     /gene="SLC17A2"
                     /gene_synonym="NPT3"
                     /inference="alignment:Splign:2.1.0"
     exon            1710..1800
                     /gene="SLC17A2"
                     /gene_synonym="NPT3"
                     /inference="alignment:Splign:2.1.0"
     exon            1801..2498
                     /gene="SLC17A2"
                     /gene_synonym="NPT3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2264..2269
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC17A2"
                     /gene_synonym="NPT3"
                     /note="hexamer: AATAAA"
     polyA_site      2286
                     /gene="SLC17A2"
                     /gene_synonym="NPT3"
                     /note="major polyA site"
     regulatory      2473..2478
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC17A2"
                     /gene_synonym="NPT3"
                     /note="hexamer: ATTAAA"
     polyA_site      2498
                     /gene="SLC17A2"
                     /gene_synonym="NPT3"
                     /note="major polyA site"
ORIGIN      
        1 aaacctgttg ccgtctgact gccacgtggc tcactattta tccctgtaaa aatctgcaaa
       61 agtatttgaa agggaagaag ggacagaaaa ctccctcctt ttccaagtta gccttatagt
      121 ctagggctta aaatactggt ttaatggtga aggtaagtgc ttttcttctt tttgggtaga
      181 aggattatta ctaacttacc aaaggtccat taaggggagg gaacagtttt aggagaagtc
      241 agagaaaaga cattaacagc aacataagga tctccatctg gtaatattgc ctaattccaa
      301 aatgaagaga ctctctgaaa aagataactg attcaatgaa gaccctaggg caaggcttga
      361 gaagccactg gtaccaatgg acactgtgga caatggtcat ttctccaagg acgctataaa
      421 agactgtcgt agtaaaagag attcagggca cagggaaact ccaccacaaa gcgtggtacc
      481 atttcccaca gaagctaaat ggacgggaag cctgccacca ggaaaggtcc agatttctgt
      541 tcattacgct atgggctggc tcttatcatg cacttctcaa acttcaccat gataacgcag
      601 cgtgtgagtc tgagcattgc gatcatcgcc atggtgaaca ccactcagca gcaaggtcta
      661 tctaatgcct ccactgaggg gcctgttgca gatgccttca ataactccag catatccatc
      721 aaggaatttg atacaaaggc ctctgtgtat caatggagcc cagaaactca gggtatcatc
      781 tttagctcca tcaactatgg gataatactg actctgatcc caagtggata tttagcaggg
      841 atatttggag caaaaaaaat gcttggtgct ggtttgctga tctcttccct tctcaccctc
      901 tttacaccac tggctgctga cttcggagtg attttggtca tcatggttcg gacagtccag
      961 ggcatggccc agggaatggc atggacaggt cagtttacta tttgggcaaa gtgggctcct
     1021 ccacttgaac gaagcaagct caccaccatt gcaggatcag ggtcagcatt tggatccttc
     1081 atcatcctct gtgtgggggg actaatctca caggccttga gctggccttt tatcttctac
     1141 atctttggta gcactggctg tgtctgctgt ctcctatggt tcacagtgat ttatgatgac
     1201 cccatgcatc acccgtgcat aagtgttagg gaaaaggagc acatcctgtc ctcactggct
     1261 caacagccca gttctcctgg acgagctgtc cccataaagg cgatggtcac atgcctacca
     1321 ctttgggcca ttttcctggg ttttttcagc catttctggt tgtgcaccat catcctaaca
     1381 tacctaccaa cgtatatcag tactctgctc catgttaaca tcagagatag tggagttctg
     1441 tcctccctgc cttttattgc tgctgcaagc tgtacaattt taggaggtca gctggcagat
     1501 ttccttttgt ccaggaatct tctcagattg atcactgtgc gaaagctctt ttcatctctt
     1561 gggctcctcc ttccatcaat atgtgctgtg gccctgccct ttgtggcctc cagttacgtg
     1621 ataaccatta ttttgctgat acttattcct gggaccagta acctatgtga ctcagggttt
     1681 atcatcaaca ccttagatat cgcccccaga tatgcaagtt tcctcatggg aatctcaagg
     1741 ggatttgggc tcatcgcagg aatcatctct tccactgcca ctggattcct catcagtcag
     1801 gattttgagt ctggttggag gaatgtcttt ttcctgtctg ctgcagtcaa catgtttggc
     1861 ctggtctttt acctcacgtt tggacaagca gaacttcaag actgggccaa agagaggacc
     1921 cttacccgcc tctgaggaca taaagttaca aacttaaatg tggtactgag catgaacttt
     1981 ttaaacattt tttacttctc tccatattcc tgaccataga ctcagcagtt cttaactctg
     2041 gctgtgtgtt agtcttccct ggggagcctt tataagacac tgatacttgg gacccactcc
     2101 agagattctg aatgaattgg tctggggtgg aacccagata ctactaattt ttagatactc
     2161 cttagaggtt tctagcatgc gcccggggtt gacaacagct ggacaaactt gaaaagtcaa
     2221 ttcatgtggc ctttgaattt tcctcattgg aaagtactaa ataaataaaa attcatgtga
     2281 aaatgatcac tgataaatat cttcatggtg gggcaggtta ttggatgcag agaagatctg
     2341 ctcggaattg tagccatatg ttacagatct cagcaccgat cggaactgta aagctataat
     2401 ccccagaatt aaagttttta ttatttttta tacattgtaa aacatagacg tttatttatg
     2461 tgattaaatt ctattaaaat ttacatgcta aaataaaa
//
