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2019-03-23 03:36:43, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001276327            2902 bp    mRNA    linear   PRI 07-JUL-2013
DEFINITION  Homo sapiens solute carrier family 22 (organic anion/urate
            transporter), member 12 (SLC22A12), transcript variant 4, mRNA.
ACCESSION   NM_001276327
VERSION     NM_001276327.1  GI:444299637
KEYWORDS    RefSeq.
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 2902)
  AUTHORS   Nakanishi,T., Ohya,K., Shimada,S., Anzai,N. and Tamai,I.
  TITLE     Functional cooperation of URAT1 (SLC22A12) and URATv1 (SLC2A9) in
            renal reabsorption of urate
  JOURNAL   Nephrol. Dial. Transplant. 28 (3), 603-611 (2013)
   PUBMED   23291366
REFERENCE   2  (bases 1 to 2902)
  AUTHORS   Hinohara,Y., Naito,M., Okada,R., Yin,G., Higashibata,T., Tamura,T.,
            Kawai,S., Morita,E., Wakai,K., Matsuo,H., Mori,A. and Hamajima,N.
  TITLE     No association between MTHFR C677T and serum uric acid levels among
            Japanese with ABCG2 126QQ and SLC22A12 258WW
  JOURNAL   Nagoya J Med Sci 75 (1-2), 93-100 (2013)
   PUBMED   23544272
  REMARK    GeneRIF: Report no association between serum uric acid and MTHFR
            C677T genotype, after the influences of ABCG2 Q126X and SLC22A12
            W258X were removed.
REFERENCE   3  (bases 1 to 2902)
  AUTHORS   Kottgen A, Albrecht E, Teumer A, Vitart V, Krumsiek J, Hundertmark
            C, Pistis G, Ruggiero D, O'Seaghdha CM, Haller T, Yang Q, Tanaka T,
            Johnson AD, Kutalik Z, Smith AV, Shi J, Struchalin M, Middelberg
            RP, Brown MJ, Gaffo AL, Pirastu N, Li G, Hayward C, Zemunik T,
            Huffman J, Yengo L, Zhao JH, Demirkan A, Feitosa MF, Liu X, Malerba
            G, Lopez LM, van der Harst P, Li X, Kleber ME, Hicks AA, Nolte IM,
            Johansson A, Murgia F, Wild SH, Bakker SJ, Peden JF, Dehghan A,
            Steri M, Tenesa A, Lagou V, Salo P, Mangino M, Rose LM, Lehtimaki
            T, Woodward OM, Okada Y, Tin A, Muller C, Oldmeadow C, Putku M,
            Czamara D, Kraft P, Frogheri L, Thun GA, Grotevendt A, Gislason GK,
            Harris TB, Launer LJ, McArdle P, Shuldiner AR, Boerwinkle E, Coresh
            J, Schmidt H, Schallert M, Martin NG, Montgomery GW, Kubo M,
            Nakamura Y, Tanaka T, Munroe PB, Samani NJ, Jacobs DR Jr, Liu K,
            D'Adamo P, Ulivi S, Rotter JI, Psaty BM, Vollenweider P, Waeber G,
            Campbell S, Devuyst O, Navarro P, Kolcic I, Hastie N, Balkau B,
            Froguel P, Esko T, Salumets A, Khaw KT, Langenberg C, Wareham NJ,
            Isaacs A, Kraja A, Zhang Q, Wild PS, Scott RJ, Holliday EG, Org E,
            Viigimaa M, Bandinelli S, Metter JE, Lupo A, Trabetti E, Sorice R,
            Doring A, Lattka E, Strauch K, Theis F, Waldenberger M, Wichmann
            HE, Davies G, Gow AJ, Bruinenberg M, Stolk RP, Kooner JS, Zhang W,
            Winkelmann BR, Boehm BO, Lucae S, Penninx BW, Smit JH, Curhan G,
            Mudgal P, Plenge RM, Portas L, Persico I, Kirin M, Wilson JF, Mateo
            Leach I, van Gilst WH, Goel A, Ongen H, Hofman A, Rivadeneira F,
            Uitterlinden AG, Imboden M, von Eckardstein A, Cucca F, Nagaraja R,
            Piras MG, Nauck M, Schurmann C, Budde K, Ernst F, Farrington SM,
            Theodoratou E, Prokopenko I, Stumvoll M, Jula A, Perola M, Salomaa
            V, Shin SY, Spector TD, Sala C, Ridker PM, Kahonen M, Viikari J,
            Hengstenberg C, Nelson CP, Meschia JF, Nalls MA, Sharma P,
            Singleton AB, Kamatani N, Zeller T, Burnier M, Attia J, Laan M,
            Klopp N, Hillege HL, Kloiber S, Choi H, Pirastu M, Tore S,
            Probst-Hensch NM, Volzke H, Gudnason V, Parsa A, Schmidt R,
            Whitfield JB, Fornage M, Gasparini P, Siscovick DS, Polasek O,
            Campbell H, Rudan I, Bouatia-Naji N, Metspalu A, Loos RJ, van Duijn
            CM, Borecki IB, Ferrucci L, Gambaro G, Deary IJ, Wolffenbuttel BH,
            Chambers JC, Marz W, Pramstaller PP, Snieder H, Gyllensten U,
            Wright AF, Navis G, Watkins H, Witteman JC, Sanna S, Schipf S,
            Dunlop MG, Tonjes A, Ripatti S, Soranzo N, Toniolo D, Chasman DI,
            Raitakari O, Kao WH, Ciullo M, Fox CS, Caulfield M, Bochud M and
            Gieger C.
  CONSRTM   LifeLines Cohort Study; CARDIoGRAM Consortium; DIAGRAM Consortium;
            ICBP Consortium; MAGIC Consortium
  TITLE     Genome-wide association analyses identify 18 new loci associated
            with serum urate concentrations
  JOURNAL   Nat. Genet. 45 (2), 145-154 (2013)
   PUBMED   23263486
REFERENCE   4  (bases 1 to 2902)
  AUTHORS   Takagi,S., Omae,R., Makanga,J.O., Kawahara,T. and Inazu,T.
  TITLE     Simple and rapid detection method for the mutations in SLC22A12
            that cause hypouricemia by allele-specific real-time polymerase
            chain reaction
  JOURNAL   Clin. Chim. Acta 415, 330-333 (2013)
   PUBMED   23148994
REFERENCE   5  (bases 1 to 2902)
  AUTHORS   Wempe,M.F., Lightner,J.W., Miller,B., Iwen,T.J., Rice,P.J.,
            Wakui,S., Anzai,N., Jutabha,P. and Endou,H.
  TITLE     Potent human uric acid transporter 1 inhibitors: in vitro and in
            vivo metabolism and pharmacokinetic studies
  JOURNAL   Drug Des Devel Ther 6, 323-339 (2012)
   PUBMED   23152669
REFERENCE   6  (bases 1 to 2902)
  AUTHORS   Anzai,N., Miyazaki,H., Noshiro,R., Khamdang,S., Chairoungdua,A.,
            Shin,H.J., Enomoto,A., Sakamoto,S., Hirata,T., Tomita,K., Kanai,Y.
            and Endou,H.
  TITLE     The multivalent PDZ domain-containing protein PDZK1 regulates
            transport activity of renal urate-anion exchanger URAT1 via its C
            terminus
  JOURNAL   J. Biol. Chem. 279 (44), 45942-45950 (2004)
   PUBMED   15304510
  REMARK    GeneRIF: PDZK1 plays a role in regulating the functional activity
            of URAT1-mediated urate transport in the apical membrane of renal
            proximal tubules.
REFERENCE   7  (bases 1 to 2902)
  AUTHORS   Iwai,N., Mino,Y., Hosoyamada,M., Tago,N., Kokubo,Y. and Endou,H.
  TITLE     A high prevalence of renal hypouricemia caused by inactive SLC22A12
            in Japanese
  JOURNAL   Kidney Int. 66 (3), 935-944 (2004)
   PUBMED   15327384
  REMARK    GeneRIF: SLC22A12 is a major gene for hypouricemia but not
            hyperuricemia in Japanese.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 2902)
  AUTHORS   Ichida,K., Hosoyamada,M., Hisatome,I., Enomoto,A., Hikita,M.,
            Endou,H. and Hosoya,T.
  TITLE     Clinical and molecular analysis of patients with renal hypouricemia
            in Japan-influence of URAT1 gene on urinary urate excretion
  JOURNAL   J. Am. Soc. Nephrol. 15 (1), 164-173 (2004)
   PUBMED   14694169
REFERENCE   9  (bases 1 to 2902)
  AUTHORS   Gisler,S.M., Pribanic,S., Bacic,D., Forrer,P., Gantenbein,A.,
            Sabourin,L.A., Tsuji,A., Zhao,Z.S., Manser,E., Biber,J. and
            Murer,H.
  TITLE     PDZK1: I. a major scaffolder in brush borders of proximal tubular
            cells
  JOURNAL   Kidney Int. 64 (5), 1733-1745 (2003)
   PUBMED   14531806
REFERENCE   10 (bases 1 to 2902)
  AUTHORS   Enomoto,A., Kimura,H., Chairoungdua,A., Shigeta,Y., Jutabha,P.,
            Cha,S.H., Hosoyamada,M., Takeda,M., Sekine,T., Igarashi,T.,
            Matsuo,H., Kikuchi,Y., Oda,T., Ichida,K., Hosoya,T., Shimokata,K.,
            Niwa,T., Kanai,Y. and Endou,H.
  TITLE     Molecular identification of a renal urate anion exchanger that
            regulates blood urate levels
  JOURNAL   Nature 417 (6887), 447-452 (2002)
   PUBMED   12024214
  REMARK    GeneRIF: Molecular identification of a renal urate anion exchanger
            that regulates blood urate levels
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB050269.1, AP001092.5,
            DA631511.1, AY358183.1, BC053348.1 and BX104022.1.
            
            Summary: The protein encoded by this gene is a member of the
            organic anion transporter (OAT) family, and it acts as a urate
            transporter to regulate urate levels in blood. This protein is an
            integral membrane protein primarily found in epithelial cells of
            the proximal tubule of the kidney. An elevated level of serum
            urate, hyperuricemia, is associated with increased incidences of
            gout, and mutations in this gene cause renal hypouricemia type 1.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Jan 2013].
            
            Transcript Variant: This variant (4) lacks two alternate exons,
            resulting in the loss of an in-frame segment in the central coding
            region, compared to variant 1. The encoded isoform (d) is shorter
            than isoform a.
            
            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 :: AY358183.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025092 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-323               AB050269.1         1-323
            324-324             AP001092.5         34063-34063
            325-998             AB050269.1         325-998
            999-1055            DA631511.1         517-573
            1056-1172           AY358183.1         589-705
            1173-1173           AP001092.5         35732-35732
            1174-1670           AY358183.1         707-1203
            1671-1671           AP001092.5         42783-42783
            1672-1774           AY358183.1         1205-1307
            1775-1775           AP001092.5         43363-43363
            1776-2125           AY358183.1         1309-1658
            2126-2878           BC053348.1         1993-2745
            2879-2902           BX104022.1         228-251
FEATURES             Location/Qualifiers
     source          1..2902
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     gene            1..2902
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /note="solute carrier family 22 (organic anion/urate
                     transporter), member 12"
                     /db_xref="GeneID:116085"
                     /db_xref="HGNC:17989"
                     /db_xref="MIM:607096"
     exon            1..1149
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /inference="alignment:Splign:1.39.8"
     variation       30
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:9734313"
     STS             94..350
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /standard_name="REN55630"
                     /db_xref="UniSTS:380430"
     variation       202
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:191101229"
     variation       279
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:71581770"
     variation       282
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:138511904"
     variation       324
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:559946"
     variation       337
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:182715759"
     variation       338
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:79768170"
     variation       339
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:75351039"
     STS             348..588
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /standard_name="REN55631"
                     /db_xref="UniSTS:380431"
     STS             392..575
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /standard_name="stSG635523"
                     /db_xref="UniSTS:460781"
     variation       394
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:191077837"
     variation       438
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:372424252"
     variation       514
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:72922827"
     variation       528
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3825018"
     STS             568..819
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /standard_name="REN55632"
                     /db_xref="UniSTS:380432"
     variation       624
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:369334634"
     variation       642
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:71581771"
     variation       673
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:369153816"
     variation       703
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:201365068"
     misc_feature    736..738
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /note="upstream in-frame stop codon"
     STS             743..972
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /standard_name="REN55633"
                     /db_xref="UniSTS:380433"
     CDS             748..2085
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /note="isoform d is encoded by transcript variant 4;
                     solute carrier family 22 (organic anion/cation
                     transporter), member 12; urate transporter 1; urate anion
                     exchanger 1; renal-specific transporter; organic anion
                     transporter 4-like protein"
                     /codon_start=1
                     /product="solute carrier family 22 member 12 isoform d"
                     /protein_id="NP_001263256.1"
                     /db_xref="GI:444299638"
                     /db_xref="GeneID:116085"
                     /db_xref="HGNC:17989"
                     /db_xref="MIM:607096"
                     /translation="
MAFSELLDLVGGLGRFQVLQTMALMVSIMWLCTQSMLENFSAAVPSHRCWAPLLDNSTAQASILGSLSPEALLAISIPPGPNQRPHQCRRFRQPQWQLLDPNATATSWSEADTEPCVDGWVYDRSIFTSTIVAKWNLVCDSHALKPMAQSIYLAGILVGAAACGPASDRWLAESARWLLTTGRLDWGLQELWRVAAINGKGAVQDTLTPEVLLSAMREELSMGQPPASLGTLLRMPGLRFRTCISTLCWFAFGFTFFGLALDLQALGSNIFLLQMFIGVVDIPAKMGALLLLSHLGRRPTLAASLLLAGLCILANTLVPHEMGALRSALAVLGLGGVGAAFTCITIYSSELFPTVLRMTAVGLGQMAARGGAILGPLVRLLGVHGPWLPLLVYGTVPVLSGLAALLLPETQSLPLPDTIQDVQNQAVKKATHGTLGNSVLKSTQF
"
     misc_feature    772..834
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96S37.1);
                     transmembrane region"
     misc_feature    1183..1245
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96S37.1);
                     transmembrane region"
     misc_feature    <1549..1971
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /note="The Major Facilitator Superfamily (MFS) is a large
                     and diverse group of secondary transporters that includes
                     uniporters, symporters, and antiporters. MFS proteins
                     facilitate the transport across cytoplasmic or internal
                     membranes of a variety of...; Region: MFS; cd06174"
                     /db_xref="CDD:119392"
     variation       759
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:138704367"
     variation       795
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373719760"
     variation       798
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:72559738"
     variation       832
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:149620216"
     variation       857
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:369459384"
     variation       870
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:144313367"
     variation       873
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:148378818"
     variation       876
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3802948"
     variation       890
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200499531"
     variation       940
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:12800450"
     variation       967
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:200961759"
     variation       971
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:141570522"
     variation       981
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377022807"
     variation       993
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3825017"
     variation       1005
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3825016"
     variation       1013
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201567912"
     variation       1016
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:121907896"
     variation       1021
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:144328876"
     variation       1052
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:61737613"
     variation       1074
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:371053482"
     variation       1080
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:146095398"
     variation       1138
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:150428327"
     exon            1150..1253
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /inference="alignment:Splign:1.39.8"
     variation       1159
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:149722479"
     variation       1173
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:11231825"
     variation       1178
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:148915713"
     variation       1223
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374684921"
     variation       1233
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376212424"
     variation       1237
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201181059"
     variation       1241
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370851012"
     exon            1254..1377
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /inference="alignment:Splign:1.39.8"
     variation       1269
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:71581775"
     variation       1284
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140154051"
     variation       1303
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:183246258"
     variation       1317
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:121907894"
     variation       1318
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:199992707"
     variation       1348
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:367678216"
     exon            1378..1493
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /inference="alignment:Splign:1.39.8"
     variation       1396
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:150255373"
     variation       1397
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:375040493"
     variation       1426
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138889743"
     variation       1448
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:140376651"
     variation       1455
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370083633"
     variation       1462
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374858585"
     variation       1484
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:371005496"
     exon            1494..1708
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /inference="alignment:Splign:1.39.8"
     variation       1498
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201322494"
     variation       1505
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:121907897"
     variation       1506
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368451526"
     variation       1523
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:372794965"
     variation       1558
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:372225207"
     variation       1577
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:149438001"
     variation       1585
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:146388519"
     variation       1608
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:138457974"
     variation       1632
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:142769893"
     variation       1640
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372595086"
     variation       1646
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:146048999"
     variation       1647
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201081275"
     variation       1648
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:77159242"
     variation       1654
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370100606"
     variation       1671
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1630320"
     variation       1676
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:121907895"
     variation       1677
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:142344676"
     variation       1694
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:150779326"
     variation       1695
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:183551522"
     variation       1708
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139140123"
     exon            1709..1817
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /inference="alignment:Splign:1.39.8"
     variation       1723
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:145200251"
     variation       1724
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:147647315"
     variation       1732
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:7932775"
     variation       1752
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:61743169"
     variation       1761
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145454847"
     variation       1772
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201423508"
     exon            1818..2021
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /inference="alignment:Splign:1.39.8"
     variation       1818
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200515227"
     variation       1823
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200104135"
     variation       1824
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368443880"
     variation       1836
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199607711"
     variation       1850
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:148862453"
     variation       1851
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:146694365"
     variation       1861
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200599563"
     variation       1883
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:151308640"
     variation       1899
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200072517"
     variation       1914
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:139224371"
     variation       1932
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:140671173"
     variation       1971
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:145764379"
     variation       1995
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:138485972"
     variation       1996
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372091940"
     variation       1998..2000
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace=""
                     /replace="cac"
                     /db_xref="dbSNP:368190173"
     variation       2005
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:375375872"
     exon            2022..2887
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /inference="alignment:Splign:1.39.8"
     variation       2029..2030
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace=""
                     /replace="agaaggcaacacatggca"
                     /replace="agaaggcacacatggta"
                     /db_xref="dbSNP:143874752"
     variation       2035
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199535450"
     variation       2039
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:369797157"
     variation       2049
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143053863"
     variation       2110
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373528077"
     variation       2115
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:376221325"
     STS             2118..2372
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /standard_name="REN55672"
                     /db_xref="UniSTS:380472"
     variation       2131
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:71583717"
     variation       2152
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139851336"
     variation       2155
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:141655625"
     variation       2208
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:375484950"
     variation       2217
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:370769782"
     variation       2237
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:146221674"
     variation       2250..2251
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace=""
                     /replace="tc"
                     /db_xref="dbSNP:139299506"
     variation       2329..2330
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace=""
                     /replace="ccctg"
                     /db_xref="dbSNP:150284736"
     variation       2333..2334
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace=""
                     /replace="gccct"
                     /db_xref="dbSNP:61157735"
     STS             2345..2591
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /standard_name="REN55673"
                     /db_xref="UniSTS:380473"
     variation       2353
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:148845071"
     variation       2356
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:184983393"
     variation       2372
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace=""
                     /replace="c"
                     /db_xref="dbSNP:200439262"
     variation       2376
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace=""
                     /replace="c"
                     /db_xref="dbSNP:3832794"
     variation       2376
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201187954"
     STS             2528..2788
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /standard_name="REN55674"
                     /db_xref="UniSTS:380474"
     variation       2535
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:146963319"
     variation       2602
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:476037"
     STS             2701..2861
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /standard_name="RH98949"
                     /db_xref="UniSTS:90688"
     variation       2732
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:200126462"
     polyA_signal    2861..2866
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
     polyA_site      2887
                     /gene="SLC22A12"
                     /gene_synonym="OAT4L; RST; URAT1"
ORIGIN      
ccacagcaggtgagtggaggcaggagccacgggtggggccaggccacacagcctgggaggcgcaggggctgggcagctgccagtgacccaagcccacacagagacttgcacagctgccccagccccaaattagggggatcccctggcccaccttctcttggctcagccactctgggaggtgggcacacaggggcaccgaagggagcaggcagccctggcatcccacagccgccaggagaaaaacttaggcctccccaagacctggcacagagcaggccggccctggcccccaagcagaggaggctgcacctccctcgcgtctgtgcctgcctcaacgcgggttaaactttgaccaaggaaatgattgctaaactcgattccataagtgtcaccggtcacactttaattccagtctaaaattaaagtcttcagtctccacattccctactttccaaattcagctttcccgggaggtctggagcagctgcctctctggggagatgctggaggtctcggaatcacctcacgcggcctcagggcccagttggagccaccccaagtgacaccagcaggcagatgaccagagagcctgagcctccggccccgagtctgtgaagcctagccgctgggctggagaagccactgtgggcaccaccgtgggggaaacaggcccgttgccctggcctctttgccctgggccagcctttgtgaagtgggcccctcttctgggccccttgagtaggttccatggcattttctgaactcctggacctcgtgggtggcctgggcaggttccaggttctccagacgatggctctgatggtctccatcatgtggctgtgtacccagagcatgctggagaacttctcggccgccgtgcccagccaccgctgctgggcacccctcctggacaacagcacggctcaggccagcatcctagggagcttgagtcctgaggccctcctggctatttccatcccgccgggccccaaccagaggccccaccagtgccgccgcttccgccagccacagtggcagctcttggaccccaatgccacggccaccagctggagcgaggccgacacggagccgtgtgtggatggctgggtctatgaccgcagcatcttcacctccacaatcgtggccaagtggaacctcgtgtgtgactctcatgctctgaagcccatggcccagtccatctacctggctgggattctggtgggagctgctgcgtgcggccctgcctcagacaggtggctggcagagtcggcacgatggctcctcaccacaggcaggctggattggggcctgcaggagctgtggagggtggctgccatcaacggaaagggggcagtgcaggacaccctgacccctgaggtcttgctttcagccatgcgggaggagctgagcatgggccagcctcctgccagcctgggcaccctgctccgcatgcccggactgcgcttccggacctgtatctccacgttgtgctggttcgcctttggcttcaccttcttcggcctggccctggacctgcaggccctgggcagcaacatcttcctgctccaaatgttcattggtgtcgtggacatcccagccaagatgggcgccctgctgctgctgagccacctgggccgccgccccacgctggccgcatccctgttgctggcagggctctgcattctggccaacacgctggtgccccacgaaatgggggctctgcgctcagccttggccgtgctggggctgggcggggtgggggctgccttcacctgcatcaccatctacagcagcgagctcttccccactgtgctcaggatgacggcagtgggcttgggccagatggcagcccgtggaggagccatcctggggcctctggtccggctgctgggtgtccatggcccctggctgcccttgctggtgtatgggacggtgccagtgctgagtggcctggccgcactgcttctgcccgagacccagagcttgccgctgcccgacaccatccaagatgtgcagaaccaggcagtaaagaaggcaacacatggcacgctggggaactctgtcctaaaatccacacagttttagcctcctggggaacctgcgatgggacggtcagaggaagagacttcttctgttctctggagaaggcaggaggaaagcaaagacctccatttccagaggcccagaggctgccctctgaggtccccactctcccccagggctgcccctccaggtgagccctgcccctctcacagtccaaggggcccccttcaatactgaaggggaaaaggacagtttgattggcaggaggtgacccagtgcaccatcaccctgccctgccctcgtggcttcggagagcagaggggtcaggcccaggggaacgagctggccttgccaaccctctgcttgactccgcactgccacttgtccccccacacccgtccacctgcccagagctcagagctaaccaccatccatggtcaagacctctcctagctccacacaagcagtagagtctcagctccacagctttacccagaagccctgtaagcctggcccctggcccctccccatgtccctccaggcctcagccacctgcccgccacatcctctgcctgctgtccccttcccaccctcatccctgaccgactccacttaacccccaaacccagccccccttccaggggtccagggccagcctgagatgcccgtgaaactcctacccacagttacagccacaagcctgcctcctcccaccctgccagcctatgagttcccagagggttggggcagtcccatgaccccatgtcccagctccccacacagcgctgggccagagaggcattggtgcgagggattgaataaagaaacaaatgaatggctgcccaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:116085 -> Molecular function: GO:0015143 [urate transmembrane transporter activity] evidence: IDA
            GeneID:116085 -> Molecular function: GO:0030165 [PDZ domain binding] evidence: IPI
            GeneID:116085 -> Biological process: GO:0015747 [urate transport] evidence: IDA
            GeneID:116085 -> Biological process: GO:0019725 [cellular homeostasis] evidence: NAS
            GeneID:116085 -> Biological process: GO:0042493 [response to drug] evidence: IDA
            GeneID:116085 -> Biological process: GO:0046415 [urate metabolic process] evidence: IMP
            GeneID:116085 -> Biological process: GO:0055085 [transmembrane transport] evidence: TAS
            GeneID:116085 -> Cellular component: GO:0005886 [plasma membrane] evidence: IDA
            GeneID:116085 -> Cellular component: GO:0005886 [plasma membrane] evidence: TAS
            GeneID:116085 -> Cellular component: GO:0016021 [integral to membrane] evidence: IDA
            GeneID:116085 -> Cellular component: GO:0016324 [apical plasma membrane] evidence: IDA
            GeneID:116085 -> Cellular component: GO:0031526 [brush border membrane] evidence: ISS
            GeneID:116085 -> Cellular component: GO:0031526 [brush border membrane] evidence: NAS

by @meso_cacase at DBCLS
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