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Homo sapiens uromodulin (UMOD), transcript variant 2, mRNA.


RefSeq Accession Definition Services Price Order
NM_001008389 Homo sapiens uromodulin (UMOD), transcript variant 2, mRNA. ORF Sequence $557.67
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RefSeq Version NM_001008389.1, 56550048
Length 2264 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens uromodulin (UMOD), transcript variant 2, mRNA.
Product uromodulin precursor
Comment

Summary: This gene encodes uromodulin, the most abundant protein in normal urine. Its excretion in urine follows proteolytic cleavage of the ectodomain of its glycosyl phosphatidylinosital-anchored counterpart that is situated on the luminal cell surface of the loop of Henle. Uromodulin may act as a constitutive inhibitor of calcium crystallization in renal fluids. Excretion of uromodulin in urine may provide defense against urinary tract infections caused by uropathogenic bacteria. Defects in this gene are associated with the autosomal dominant renal disorders medullary cystic kidney disease-2 (MCKD2) and familial juvenile hyperuricemic nephropathy (FJHN). These disorders are characterized by juvenile onset of hyperuricemia, gout, and progressive renal failure. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode the same isoform. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform.

RefSeq NP_001008390.1
CDS 67..1989
Misc Feature(1)169..255
Misc Feature(2)259..366
Misc Feature(3)order(259..261,268..270,319..321)
Misc Feature(4)292..294
Misc Feature(5)304..306
Misc Feature(6)388..513
Misc Feature(7)order(388..390,397..399,448..450)
Misc Feature(8)760..762
Misc Feature(9)889..891
Misc Feature(10)1030..1032
Misc Feature(11)1066..1815
Misc Feature(12)1252..1254
Misc Feature(13)1603..1605
Misc Feature(14)1825..1830
Exon (1)1..27
Gene:UMOD
Gene Synonym:ADMCKD2; FJHN; HNFJ; HNFJ1; MCKD2; THGP; THP
Exon (2)28..154
Gene:UMOD
Gene Synonym:ADMCKD2; FJHN; HNFJ; HNFJ1; MCKD2; THGP; THP
Exon (3)155..931
Gene:UMOD
Gene Synonym:ADMCKD2; FJHN; HNFJ; HNFJ1; MCKD2; THGP; THP
Exon (4)932..1039
Gene:UMOD
Gene Synonym:ADMCKD2; FJHN; HNFJ; HNFJ1; MCKD2; THGP; THP
Exon (5)1040..1248
Gene:UMOD
Gene Synonym:ADMCKD2; FJHN; HNFJ; HNFJ1; MCKD2; THGP; THP
Exon (6)1249..1397
Gene:UMOD
Gene Synonym:ADMCKD2; FJHN; HNFJ; HNFJ1; MCKD2; THGP; THP
Exon (7)1398..1643
Gene:UMOD
Gene Synonym:ADMCKD2; FJHN; HNFJ; HNFJ1; MCKD2; THGP; THP
Exon (8)1644..1806
Gene:UMOD
Gene Synonym:ADMCKD2; FJHN; HNFJ; HNFJ1; MCKD2; THGP; THP
Exon (9)1807..1888
Gene:UMOD
Gene Synonym:ADMCKD2; FJHN; HNFJ; HNFJ1; MCKD2; THGP; THP
Exon (10)1889..1927
Gene:UMOD
Gene Synonym:ADMCKD2; FJHN; HNFJ; HNFJ1; MCKD2; THGP; THP
Exon (11)1928..2252
Gene:UMOD
Gene Synonym:ADMCKD2; FJHN; HNFJ; HNFJ1; MCKD2; THGP; THP
Translation MGQPSLTWMLMVVVASWFITTAATDTSEARWCSECHSNATCTEDEAVTTCTCQEGFTGDG LTCVDLDECAIPGAHNCSANSSCVNTPGSFSCVCPEGFRLSPGLGCTDVDECAEPGLSHC HALATCVNVVGSYLCVCPAGYRGDGWHCECSPGSCGPGLDCVPEGDALVCADPCQAHRTL DEYWRSTEYGEGYACDTDLRGWYRFVGQGGARMAETCVPVLRCNTAAPMWLNGTHPSSDE GIVSRKACAHWSGHCCLWDASVQVKACAGGYYVYNLTAPPECHLAYCTDPSSVEGTCEEC SIDEDCKSNNGRWHCQCKQDFNITDISLLEHRLECGANDMKVSLGKCQLKSLGFDKVFMY LSDSRCSGFNDRDNRDWVSVVTPARDGPCGTVLTRNETHATYSNTLYLADEIIIRDLNIK INFACSYPLDMKVSLKTALQPMVSALNIRVGGTGMFTVRMALFQTPSYTQPYQGSSVTLS TEAFLYVGTMLDGGDLSRFALLMTNCYATPSSNATDPLKYFIIQDRCPHTRDSTIQVVEN GESSQGRFSVQMFRFAGNYDLVYLHCEVYLCDTMNEKCKPTCSGTRFRSGSVIDQSRVLN LGPITRKGVQATVSRAFSSLGLLKVWLPLLLSATLTLTFQ
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Position Chain Variation Link
complement(49)-dbSNP:
complement(49)-c, adbSNP:200053001
complement(140)-t, cdbSNP:148980017
complement(204)-dbSNP:
complement(204)-g, adbSNP:146858440
complement(250)-t, gdbSNP:143248111
complement(296)-g, adbSNP:121917768
complement(330)-g, adbSNP:77875418
complement(373)-t, gdbSNP:28934584
complement(385)-t, cdbSNP:145974442
complement(399)-t, cdbSNP:143965681
complement(412)-t, cdbSNP:139042757
complement(442)-t, cdbSNP:121917769
complement(449)-g, adbSNP:121917770
complement(462)-g, adbSNP:112787476
complement(491)-t, cdbSNP:199835347
complement(509)-g, adbSNP:28934582
complement(588)-g, adbSNP:7193058
complement(604)-g, cdbSNP:187555378
complement(715)-t, cdbSNP:28934583
complement(830)-g, adbSNP:121917771
complement(858)-t, cdbSNP:13335818
complement(882)-t, gdbSNP:141383844
complement(883)-t, gdbSNP:121917774
complement(906)-g, adbSNP:78691203
complement(941)-dbSNP:
complement(941)-t, gdbSNP:147199402
complement(950)-g, cdbSNP:143648949
complement(951)-t, cdbSNP:28544423
complement(964)-t, gdbSNP:121917772
complement(989)-g, cdbSNP:146566855
complement(1009)-t, cdbSNP:121917773
complement(1056)-dbSNP:
complement(1056)-t, cdbSNP:200665026
complement(1108)-g, adbSNP:199631490
complement(1128)-g, adbSNP:78613713
complement(1158)-g, adbSNP:199926047
complement(1166)-g, adbSNP:138178893
complement(1190)-t, cdbSNP:151061376
complement(1197)-g, cdbSNP:201738891
complement(1211)-t, gdbSNP:140632899
complement(1212)-g, adbSNP:146885508
complement(1214)-g, adbSNP:181197211
complement(1218)-g, cdbSNP:143764582
complement(1219)-g, adbSNP:200414962
complement(1220)-t, cdbSNP:141355380
complement(1228)-g, adbSNP:201765927
complement(1308)-dbSNP:
complement(1308)-t, gdbSNP:146440803
complement(1331)-t, cdbSNP:200835382
complement(1354)-t, cdbSNP:200394184
complement(1357)-t, cdbSNP:201229685
complement(1383)-t, adbSNP:142589683
complement(1395)-g, adbSNP:150550882
complement(1419)-dbSNP:
complement(1419)-g, cdbSNP:111904030
complement(1420)-t, cdbSNP:138682701
complement(1425)-g, adbSNP:144461487
complement(1438)-c, adbSNP:55772253
complement(1441)-g, adbSNP:139607138
complement(1442)-t, cdbSNP:201761378
complement(1449)-t, cdbSNP:147222401
complement(1472)-g, adbSNP:143583842
complement(1491)-g, adbSNP:200153849
complement(1509)-c, adbSNP:138117683
complement(1510)-t, cdbSNP:199755988
complement(1524)-g, adbSNP:141800038
complement(1530)-g, adbSNP:141912637
complement(1559)-t, cdbSNP:188397613
complement(1566)-t, cdbSNP:200895986
complement(1626)-g, cdbSNP:202057954
complement(1713)-dbSNP:
complement(1713)-g, adbSNP:148082440
complement(1714)-t, cdbSNP:188709583
complement(1727)-t, cdbSNP:199633513
complement(1746)-g, cdbSNP:200473249
complement(1759)-g, cdbSNP:1126652
complement(1772)-t, cdbSNP:202194195
complement(1808)-dbSNP:
complement(1808)-t, gdbSNP:143641292
complement(1820)-g, adbSNP:111992415
complement(1830)-g, adbSNP:4508425
complement(1838)-c, adbSNP:138994270
complement(1846)-t, cdbSNP:184339980
complement(1856)-t, cdbSNP:201799787
complement(1883)-t, cdbSNP:200399798
complement(1982)-dbSNP:
complement(1982)-g, adbSNP:145165861
complement(1997)-g, adbSNP:199904726
complement(2057)-c, adbSNP:113852396
complement(2093)-g, adbSNP:111699931
complement(2119)-g, adbSNP:113468667
complement(2207)-g, cdbSNP:150543656
complement(2233)-t, adbSNP:115984552
Gene SymbolUMOD
Gene SynonymADMCKD2; FJHN; HNFJ; HNFJ1; MCKD2; THGP; THP
Chromosome16
Locus Map16p12.3
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001008389 Homo sapiens uromodulin (UMOD), transcript variant 2, mRNA. Full Length $656.56
ORF Sequence $557.67
NM_003361 Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA. Full Length $674.83
ORF Sequence $557.67
Title Uromodulin triggers IL-1beta-dependent innate immunity via the NLRP3 inflammasome .
Author Darisipudi,M.N., Thomasova,D., Mulay,S.R., Brech,D., Noessner,E., Liapis,H. and Anders,H.J.
Journal J. Am. Soc. Nephrol. 23 (11), 1783-1789 (2012)
Title Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations .
Author Okada,Y., Sim,X., Go,M.J., Wu,J.Y., Gu,D., Takeuchi,F., Takahashi,A., Maeda,S., Tsunoda,T., Chen,P., Lim,S.C., Wong,T.Y., Liu,J., Young,T.L., Aung,T., Seielstad,M., Teo,Y.Y., Kim,Y.J., Lee,J.Y., Han,B.G., Kang,D., Chen,C.H., Tsai,F.J., Chang,L.C., Fann,S.J., Mei,H., Rao,D.C., Hixson,J.E., Chen,S., Katsuya,T., Isono,M., Ogihara,T., Chambers,J.C., Zhang,W., Kooner,J.S., Albrecht,E., Yamamoto,K., Kubo,M., Nakamura,Y., Kamatani,N., Kato,N., He,J., Chen,Y.T., Cho,Y.S., Tai,E.S. and Tanaka,T.
Journal Nat. Genet. 44 (8), 904-909 (2012)
Title UMOD as a susceptibility gene for end-stage renal disease .
Author Reznichenko,A., Boger,C.A., Snieder,H., van den Born,J., de Borst,M.H., Damman,J., van Dijk,M.C., van Goor,H., Hepkema,B.G., Hillebrands,J.L., Leuvenink,H.G., Niesing,J., Bakker,S.J., Seelen,M. and Navis,G.
Journal BMC Med. Genet. 13, 78 (2012)
Title Novel uromodulin mutation in familial juvenile hyperuricemic nephropathy .
Author Wei,X., Xu,R., Yang,Z., Li,Z., Liao,Y., Johnson,R.J., Yu,X. and Chen,W.
Journal Am. J. Nephrol. 36 (2), 114-120 (2012)
Title Association of estimated glomerular filtration rate and urinary uromodulin concentrations with rare variants identified by UMOD gene region sequencing .
Author Kottgen,A., Yang,Q., Shimmin,L.C., Tin,A., Schaeffer,C., Coresh,J., Liu,X., Rampoldi,L., Hwang,S.J., Boerwinkle,E., Hixson,J.E., Kao,W.H. and Fox,C.S.
Journal PLoS ONE 7 (5), E38311 (2012)
Title Uromodulin (Tamm-Horsfall glycoprotein/uromucoid) is a phosphatidylinositol-linked membrane protein .
Author Rindler,M.J., Naik,S.S., Li,N., Hoops,T.C. and Peraldi,M.N.
Journal J. Biol. Chem. 265 (34), 20784-20789 (1990)
Title Uromodulin (Tamm-Horsfall glycoprotein): a renal ligand for lymphokines .
Author Hession,C., Decker,J.M., Sherblom,A.P., Kumar,S., Yue,C.C., Mattaliano,R.J., Tizard,R., Kawashima,E., Schmeissner,U., Heletky,S. et al.
Journal Science 237 (4821), 1479-1484 (1987)
Title Identification of human uromodulin as the Tamm-Horsfall urinary glycoprotein .
Author Pennica,D., Kohr,W.J., Kuang,W.J., Glaister,D., Aggarwal,B.B., Chen,E.Y. and Goeddel,D.V.
Journal Science 236 (4797), 83-88 (1987)
Title Uromodulin: a unique 85-kilodalton immunosuppressive glycoprotein isolated from urine of pregnant women .
Author Muchmore,A.V. and Decker,J.M.
Journal Science 229 (4712), 479-481 (1985)
Title Localization of Tamm-Horsfall glycoprotein in the human kidney using immuno-fluorescence and immuno-electron microscopical techniques .
Author Sikri,K.L., Foster,C.L., MacHugh,N. and Marshall,R.D.
Journal J. Anat. 132 (PT 4), 597-605 (1981)

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