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2025-05-09 17:36:37, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_153378 2960 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens solute carrier family 22 (organic anion/urate
transporter), member 12 (SLC22A12), transcript variant 2, mRNA.
ACCESSION NM_153378
VERSION NM_153378.2 GI:444299634
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 2960)
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 2960)
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 2960)
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 2960)
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 2960)
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 2960)
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 2960)
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 2960)
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 2960)
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 2960)
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,
AK055737.1, BC053348.1 and BX104022.1.
On Jan 30, 2013 this sequence version replaced gi:24497486.
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 (2) contains alternate 5' exon
structure, lacks a portion of the 5' coding region, and uses a
downstream in-frame start codon, compared to variant 1. The encoded
isoform (b) is shorter at the N-terminus, compared to 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 :: AK055737.1 [ECO:0000332]
##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
325-528 AB050269.1 325-528
529-893 AK055737.1 111-475
894-894 AP001092.5 34744-34744
895-1061 AK055737.1 477-643
1062-1062 AP001092.5 35732-35732
1063-1728 AK055737.1 645-1310
1729-1729 AP001092.5 42783-42783
1730-2936 BC053348.1 1539-2745
2937-2960 BX104022.1 228-251
FEATURES Location/Qualifiers
source 1..2960
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="11"
/map="11q13.1"
gene 1..2960
/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..738
/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"
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"
exon 739..1038
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/inference="alignment:Splign:1.39.8"
variation 746
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:369459384"
variation 759
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:144313367"
variation 762
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:148378818"
variation 765
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:3802948"
variation 779
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200499531"
variation 829
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="g"
/replace="t"
/db_xref="dbSNP:12800450"
variation 856
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="g"
/replace="t"
/db_xref="dbSNP:200961759"
variation 860
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:141570522"
variation 870
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:377022807"
variation 882
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:3825017"
variation 894
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:3825016"
variation 902
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201567912"
variation 905
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:121907896"
variation 910
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:144328876"
variation 941
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:61737613"
variation 963
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:371053482"
variation 969
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:146095398"
variation 1027
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:150428327"
exon 1039..1142
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/inference="alignment:Splign:1.39.8"
variation 1048
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:149722479"
variation 1062
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:11231825"
misc_feature 1067..1069
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/note="upstream in-frame stop codon"
variation 1067
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:148915713"
variation 1112
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374684921"
variation 1122
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376212424"
variation 1126
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201181059"
variation 1130
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:370851012"
exon 1143..1311
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/inference="alignment:Splign:1.39.8"
CDS 1145..2143
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/note="isoform b is encoded by transcript variant 2;
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 b"
/protein_id="NP_700357.1"
/db_xref="GI:24497487"
/db_xref="GeneID:116085"
/db_xref="HGNC:17989"
/db_xref="MIM:607096"
/translation="
MEWTAARARPLVMTLNSLGFSFGHGLTAAVAYGVRDWTLLQLVVSVPFFLCFLYSWWLAESARWLLTTGRLDWGLQELWRVAAINGKGAVQDTLTPEVLLSAMREELSMGQPPASLGTLLRMPGLRFRTCISTLCWFAFGFTFFGLALDLQALGSNIFLLQMFIGVVDIPAKMGALLLLSHLGRRPTLAASLLLAGLCILANTLVPHEMGALRSALAVLGLGGVGAAFTCITIYSSELFPTVLRMTAVGLGQMAARGGAILGPLVRLLGVHGPWLPLLVYGTVPVLSGLAALLLPETQSLPLPDTIQDVQNQAVKKATHGTLGNSVLKSTQF
"
misc_feature <1148..2059
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/note="cation transport protein; Region: 2A0119;
TIGR00898"
/db_xref="CDD:162097"
misc_feature <1607..2029
/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 1158
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:145738825"
variation 1160
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201136391"
variation 1164
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376338940"
variation 1165
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:377128267"
variation 1213
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:371087747"
variation 1234
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="g"
/db_xref="dbSNP:373029817"
variation 1241
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="g"
/replace="t"
/db_xref="dbSNP:376297536"
variation 1255
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:121907892"
variation 1259
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200690486"
variation 1294
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200680754"
variation 1310
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:139316841"
exon 1312..1435
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/inference="alignment:Splign:1.39.8"
variation 1327
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:71581775"
variation 1342
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:140154051"
variation 1361
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="g"
/replace="t"
/db_xref="dbSNP:183246258"
variation 1375
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:121907894"
variation 1376
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:199992707"
variation 1406
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="g"
/replace="t"
/db_xref="dbSNP:367678216"
exon 1436..1551
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/inference="alignment:Splign:1.39.8"
variation 1454
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:150255373"
variation 1455
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:375040493"
variation 1484
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:138889743"
variation 1506
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:140376651"
variation 1513
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:370083633"
variation 1520
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:374858585"
variation 1542
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:371005496"
exon 1552..1766
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/inference="alignment:Splign:1.39.8"
variation 1556
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201322494"
variation 1563
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="g"
/replace="t"
/db_xref="dbSNP:121907897"
variation 1564
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:368451526"
variation 1581
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="t"
/db_xref="dbSNP:372794965"
variation 1616
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:372225207"
variation 1635
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:149438001"
variation 1643
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:146388519"
variation 1666
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:138457974"
variation 1690
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:142769893"
variation 1698
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372595086"
variation 1704
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:146048999"
variation 1705
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201081275"
variation 1706
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:77159242"
variation 1712
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:370100606"
variation 1729
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1630320"
variation 1734
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="g"
/replace="t"
/db_xref="dbSNP:121907895"
variation 1735
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:142344676"
variation 1752
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:150779326"
variation 1753
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:183551522"
variation 1766
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:139140123"
exon 1767..1875
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/inference="alignment:Splign:1.39.8"
variation 1781
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:145200251"
variation 1782
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:147647315"
variation 1790
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:7932775"
variation 1810
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:61743169"
variation 1819
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:145454847"
variation 1830
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201423508"
exon 1876..2079
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/inference="alignment:Splign:1.39.8"
variation 1876
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200515227"
variation 1881
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200104135"
variation 1882
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:368443880"
variation 1894
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:199607711"
variation 1908
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="c"
/db_xref="dbSNP:148862453"
variation 1909
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:146694365"
variation 1919
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200599563"
variation 1941
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:151308640"
variation 1957
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200072517"
variation 1972
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="c"
/db_xref="dbSNP:139224371"
variation 1990
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:140671173"
variation 2029
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:145764379"
variation 2053
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:138485972"
variation 2054
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372091940"
variation 2056..2058
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace=""
/replace="cac"
/db_xref="dbSNP:368190173"
variation 2063
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="c"
/db_xref="dbSNP:375375872"
exon 2080..2945
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/inference="alignment:Splign:1.39.8"
variation 2087..2088
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace=""
/replace="agaaggcaacacatggca"
/replace="agaaggcacacatggta"
/db_xref="dbSNP:143874752"
variation 2093
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:199535450"
variation 2097
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:369797157"
variation 2107
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:143053863"
variation 2168
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:373528077"
variation 2173
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="c"
/db_xref="dbSNP:376221325"
STS 2176..2430
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/standard_name="REN55672"
/db_xref="UniSTS:380472"
variation 2189
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:71583717"
variation 2210
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:139851336"
variation 2213
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:141655625"
variation 2266
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="t"
/db_xref="dbSNP:375484950"
variation 2275
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="c"
/db_xref="dbSNP:370769782"
variation 2295
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:146221674"
variation 2308..2309
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace=""
/replace="tc"
/db_xref="dbSNP:139299506"
variation 2387..2388
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace=""
/replace="ccctg"
/db_xref="dbSNP:150284736"
variation 2391..2392
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace=""
/replace="gccct"
/db_xref="dbSNP:61157735"
STS 2403..2649
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/standard_name="REN55673"
/db_xref="UniSTS:380473"
variation 2411
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:148845071"
variation 2414
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:184983393"
variation 2430
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace=""
/replace="c"
/db_xref="dbSNP:200439262"
variation 2434
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace=""
/replace="c"
/db_xref="dbSNP:3832794"
variation 2434
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201187954"
STS 2586..2846
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/standard_name="REN55674"
/db_xref="UniSTS:380474"
variation 2593
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:146963319"
variation 2660
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:476037"
STS 2759..2919
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/standard_name="RH98949"
/db_xref="UniSTS:90688"
variation 2790
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="g"
/replace="t"
/db_xref="dbSNP:200126462"
polyA_signal 2919..2924
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
polyA_site 2945
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
ORIGIN
ccacagcaggtgagtggaggcaggagccacgggtggggccaggccacacagcctgggaggcgcaggggctgggcagctgccagtgacccaagcccacacagagacttgcacagctgccccagccccaaattagggggatcccctggcccaccttctcttggctcagccactctgggaggtgggcacacaggggcaccgaagggagcaggcagccctggcatcccacagccgccaggagaaaaacttaggcctccccaagacctggcacagagcaggccggccctggcccccaagcagaggaggctgcacctccctcgcgtctgtgcctgcctcaacgcgggttaaactttgaccaaggaaatgattgctaaactcgattccataagtgtcaccggtcacactttaattccagtctaaaattaaagtcttcagtctccacattccctactttccaaattcagctttcccgggaggtctggagcagctgcctctctggggagatgctggaggtctcggaatcacctcacgcggcctcagggcccagttggagccaccccaagtgacaccagcaggcagatgaccagagagcctgagcctccggccccgagtctgtgaagcctagccgctgggctggagaagccactgtgggcaccaccgtgggggaaacaggcccgttgccctggcctctttgccctgggccagcctttgtgaagtgggcccctcttctgggccccttgaagcatgctggagaacttctcggccgccgtgcccagccaccgctgctgggcacccctcctggacaacagcacggctcaggccagcatcctagggagcttgagtcctgaggccctcctggctatttccatcccgccgggccccaaccagaggccccaccagtgccgccgcttccgccagccacagtggcagctcttggaccccaatgccacggccaccagctggagcgaggccgacacggagccgtgtgtggatggctgggtctatgaccgcagcatcttcacctccacaatcgtggccaagtggaacctcgtgtgtgactctcatgctctgaagcccatggcccagtccatctacctggctgggattctggtgggagctgctgcgtgcggccctgcctcagacagtgatggagtggacggcggcacgggcccgacccttggtgatgaccttgaactctctgggcttcagcttcggccatggcctgacagctgcagtggcctacggtgtgcgggactggacactgctgcagctggtggtctcggtccccttcttcctctgctttttgtactcctggtggctggcagagtcggcacgatggctcctcaccacaggcaggctggattggggcctgcaggagctgtggagggtggctgccatcaacggaaagggggcagtgcaggacaccctgacccctgaggtcttgctttcagccatgcgggaggagctgagcatgggccagcctcctgccagcctgggcaccctgctccgcatgcccggactgcgcttccggacctgtatctccacgttgtgctggttcgcctttggcttcaccttcttcggcctggccctggacctgcaggccctgggcagcaacatcttcctgctccaaatgttcattggtgtcgtggacatcccagccaagatgggcgccctgctgctgctgagccacctgggccgccgccccacgctggccgcatccctgttgctggcagggctctgcattctggccaacacgctggtgccccacgaaatgggggctctgcgctcagccttggccgtgctggggctgggcggggtgggggctgccttcacctgcatcaccatctacagcagcgagctcttccccactgtgctcaggatgacggcagtgggcttgggccagatggcagcccgtggaggagccatcctggggcctctggtccggctgctgggtgtccatggcccctggctgcccttgctggtgtatgggacggtgccagtgctgagtggcctggccgcactgcttctgcccgagacccagagcttgccgctgcccgacaccatccaagatgtgcagaaccaggcagtaaagaaggcaacacatggcacgctggggaactctgtcctaaaatccacacagttttagcctcctggggaacctgcgatgggacggtcagaggaagagacttcttctgttctctggagaaggcaggaggaaagcaaagacctccatttccagaggcccagaggctgccctctgaggtccccactctcccccagggctgcccctccaggtgagccctgcccctctcacagtccaaggggcccccttcaatactgaaggggaaaaggacagtttgattggcaggaggtgacccagtgcaccatcaccctgccctgccctcgtggcttcggagagcagaggggtcaggcccaggggaacgagctggccttgccaaccctctgcttgactccgcactgccacttgtccccccacacccgtccacctgcccagagctcagagctaaccaccatccatggtcaagacctctcctagctccacacaagcagtagagtctcagctccacagctttacccagaagccctgtaagcctggcccctggcccctccccatgtccctccaggcctcagccacctgcccgccacatcctctgcctgctgtccccttcccaccctcatccctgaccgactccacttaacccccaaacccagccccccttccaggggtccagggccagcctgagatgcccgtgaaactcctacccacagttacagccacaagcctgcctcctcccaccctgccagcctatgagttcccagagggttggggcagtcccatgaccccatgtcccagctccccacacagcgctgggccagagaggcattggtgcgagggattgaataaagaaacaaatgaatggctgcccaaaaaaaaaaaaaaa
//
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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