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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001008389 Homo sapiens uromodulin (UMOD), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $849.00 20

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RefSeq Version NM_001008389.2, 519666792
Length 2427 bp
Structure linear
Update Date 05-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens uromodulin (UMOD), transcript variant 2, mRNA.
Product uromodulin isoform a preproprotein
Comment

Summary: The protein encoded by this gene is the most abundant protein in mammalian urine under physiological conditions. 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. This protein may act as a constitutive inhibitor of calcium crystallization in renal fluids. Excretion of this protein in urine may provide defense against urinary tract infections caused by uropathogenic bacteria. Defects in this gene are associated with the renal disorders medullary cystic kidney disease-2 (MCKD2), glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI), and familial juvenile hyperuricemic nephropathy (FJHN). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2013].


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

RefSeq NP_001008390.1
CDS 230..2152
Misc Feature(1)98..100
Misc Feature(2)332..418
Misc Feature(3)422..529
Misc Feature(4)order(422..424,431..433,482..484)
Misc Feature(5)455..457
Misc Feature(6)467..469
Misc Feature(7)551..676
Misc Feature(8)order(551..553,560..562,611..613)
Misc Feature(9)923..925
Misc Feature(10)1052..1054
Misc Feature(11)1193..1195
Misc Feature(12)1229..1978
Misc Feature(13)1415..1417
Misc Feature(14)1766..1768
Misc Feature(15)1988..1993
Exon (1)1..190
Gene:UMOD
Gene Synonym:ADMCKD2; FJHN; HNFJ; HNFJ1; MCKD2; THGP; THP
Exon (2)191..317
Gene:UMOD
Gene Synonym:ADMCKD2; FJHN; HNFJ; HNFJ1; MCKD2; THGP; THP
Exon (3)318..1094
Gene:UMOD
Gene Synonym:ADMCKD2; FJHN; HNFJ; HNFJ1; MCKD2; THGP; THP
Exon (4)1095..1202
Gene:UMOD
Gene Synonym:ADMCKD2; FJHN; HNFJ; HNFJ1; MCKD2; THGP; THP
Exon (5)1203..1411
Gene:UMOD
Gene Synonym:ADMCKD2; FJHN; HNFJ; HNFJ1; MCKD2; THGP; THP
Exon (6)1412..1560
Gene:UMOD
Gene Synonym:ADMCKD2; FJHN; HNFJ; HNFJ1; MCKD2; THGP; THP
Exon (7)1561..1806
Gene:UMOD
Gene Synonym:ADMCKD2; FJHN; HNFJ; HNFJ1; MCKD2; THGP; THP
Exon (8)1807..1969
Gene:UMOD
Gene Synonym:ADMCKD2; FJHN; HNFJ; HNFJ1; MCKD2; THGP; THP
Exon (9)1970..2051
Gene:UMOD
Gene Synonym:ADMCKD2; FJHN; HNFJ; HNFJ1; MCKD2; THGP; THP
Exon (10)2052..2090
Gene:UMOD
Gene Synonym:ADMCKD2; FJHN; HNFJ; HNFJ1; MCKD2; THGP; THP
Exon (11)2091..2415
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(61)-dbSNP:
complement(61)-g, adbSNP:374097168
complement(74)-t, cdbSNP:192324340
complement(75)-t, adbSNP:116101921
complement(134)-t, cdbSNP:138793302
complement(163)-g, cdbSNP:188887539
complement(212)-dbSNP:
complement(212)-c, adbSNP:200053001
complement(213)-g, adbSNP:375932019
complement(290)-t, cdbSNP:372294954
complement(303)-t, cdbSNP:148980017
complement(355)-dbSNP:
complement(355)-t, cdbSNP:368399167
complement(367)-g, adbSNP:146858440
complement(413)-t, gdbSNP:143248111
complement(448)-t, gdbSNP:373920954
459+a, gdbSNP:121917768
complement(486)-g, cdbSNP:376787639
complement(488)-g, adbSNP:374642516
complement(493)-g, adbSNP:77875418
complement(532)-c, adbSNP:370600033
536+g, tdbSNP:28934584
546+g, tdbSNP:398123697
complement(548)-t, cdbSNP:145974442
complement(562)-t, cdbSNP:143965681
complement(572)-t, gdbSNP:376957420
complement(575)-t, cdbSNP:139042757
605+c, tdbSNP:121917769
612+a, gdbSNP:121917770
complement(621)-t, cdbSNP:368943553
complement(625)-g, adbSNP:112787476
complement(654)-t, cdbSNP:199835347
672+a, gdbSNP:28934582
complement(733)-g, adbSNP:369454700
complement(751)-g, adbSNP:7193058
complement(767)-g, cdbSNP:187555378
796+c, tdbSNP:387907553
878+c, g, tdbSNP:28934583
complement(885)-g, adbSNP:369415417
972+c, gdbSNP:398122388
993+a, gdbSNP:121917771
complement(1021)-t, cdbSNP:13335818
1026+c, tdbSNP:387907551
complement(1045)-t, gdbSNP:141383844
1046+g, tdbSNP:121917774
complement(1050)-t, cdbSNP:375848177
complement(1069)-g, adbSNP:78691203
complement(1104)-dbSNP:
complement(1104)-t, gdbSNP:147199402
complement(1113)-g, cdbSNP:143648949
complement(1114)-t, cdbSNP:28544423
complement(1121)-t, cdbSNP:377428168
1127+g, tdbSNP:121917772
complement(1152)-g, cdbSNP:146566855
1162+c, tdbSNP:387907552
1172+c, tdbSNP:121917773
1173+a, gdbSNP:398123698
complement(1219)-dbSNP:
complement(1219)-t, cdbSNP:200665026
complement(1228)-t, cdbSNP:372276077
1257+c, tdbSNP:387907550
complement(1258)-t, cdbSNP:375846119
complement(1271)-g, adbSNP:199631490
complement(1291)-g, adbSNP:78613713
complement(1310)-g, adbSNP:369481974
complement(1321)-g, adbSNP:199926047
complement(1329)-g, adbSNP:138178893
complement(1352)-g, adbSNP:373609971
complement(1353)-t, cdbSNP:151061376
complement(1360)-g, cdbSNP:201738891
complement(1361)-g, cdbSNP:375223847
complement(1373)-t, cdbSNP:368782191
complement(1375)-g, adbSNP:146885508
complement(1377)-g, adbSNP:181197211
complement(1381)-g, cdbSNP:143764582
complement(1382)-g, adbSNP:200414962
complement(1383)-t, cdbSNP:141355380
complement(1391)-g, adbSNP:201765927
complement(1471)-dbSNP:
complement(1471)-t, gdbSNP:146440803
complement(1494)-t, cdbSNP:200835382
complement(1504)-g, adbSNP:375954910
complement(1512)-g, adbSNP:371364890
complement(1517)-t, cdbSNP:200394184
complement(1520)-t, cdbSNP:201229685
complement(1546)-t, adbSNP:142589683
complement(1549)-c, adbSNP:375844457
complement(1558)-g, adbSNP:150550882
complement(1582)-dbSNP:
complement(1582)-g, cdbSNP:111904030
complement(1583)-t, cdbSNP:138682701
complement(1588)-g, adbSNP:144461487
complement(1601)-c, adbSNP:55772253
complement(1604)-g, adbSNP:139607138
complement(1605)-t, cdbSNP:201761378
complement(1612)-t, cdbSNP:147222401
complement(1619)-g, adbSNP:373412017
complement(1635)-g, adbSNP:143583842
complement(1637)-g, cdbSNP:375442986
complement(1654)-g, adbSNP:200153849
complement(1663)-t, cdbSNP:372991145
complement(1672)-c, adbSNP:138117683
complement(1673)-t, cdbSNP:199755988
complement(1687)-g, adbSNP:141800038
complement(1688)-t, cdbSNP:375158769
complement(1693)-g, adbSNP:141912637
complement(1704)-t, cdbSNP:372216632
complement(1721)-g, adbSNP:368993197
complement(1722)-t, cdbSNP:188397613
complement(1729)-t, cdbSNP:200895986
complement(1774)-t, cdbSNP:375959252
complement(1789)-g, cdbSNP:202057954
complement(1818)-dbSNP:
complement(1818)-g, adbSNP:376233386
complement(1876)-g, adbSNP:148082440
complement(1877)-t, cdbSNP:188709583
complement(1890)-t, cdbSNP:199633513
complement(1909)-g, cdbSNP:200473249
1922+c, gdbSNP:1126652
complement(1935)-t, cdbSNP:202194195
complement(1971)-dbSNP:
complement(1971)-t, gdbSNP:143641292
complement(1980)-c, adbSNP:369483570
complement(1983)-g, adbSNP:111992415
1992+a, gdbSNP:387907549
1993+a, gdbSNP:4508425
complement(2001)-c, adbSNP:138994270
complement(2009)-t, cdbSNP:184339980
complement(2019)-t, cdbSNP:201799787
complement(2046)-t, cdbSNP:200399798
complement(2137)-dbSNP:
complement(2137)-g, cdbSNP:369335930
complement(2145)-g, adbSNP:145165861
complement(2160)-g, adbSNP:199904726
complement(2220)-c, adbSNP:113852396
complement(2256)-g, adbSNP:111699931
complement(2282)-g, adbSNP:113468667
2370+c, gdbSNP:150543656
complement(2396)-t, adbSNP:115984552
Gene SymbolUMOD
Gene SynonymADMCKD2; FJHN; HNFJ; HNFJ1; MCKD2; THGP; THP
Chromosome16
Locus Map16p12.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001278614 Homo sapiens uromodulin (UMOD), transcript variant 3, mRNA. On-demand $849.00 20
NM_001008389 Homo sapiens uromodulin (UMOD), transcript variant 2, mRNA. On-demand $849.00 20
NM_003361 Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA. On-demand $849.00 20
XM_006721085 PREDICTED: Homo sapiens uromodulin (UMOD), transcript variant X1, mRNA. On-demand $849.00 20
XM_006721086 PREDICTED: Homo sapiens uromodulin (UMOD), transcript variant X2, mRNA. On-demand $849.00 20
XM_006721087 PREDICTED: Homo sapiens uromodulin (UMOD), transcript variant X3, mRNA. On-demand $849.00 20
XM_006721088 PREDICTED: Homo sapiens uromodulin (UMOD), transcript variant X4, mRNA. On-demand $849.00 20
XM_006721089 PREDICTED: Homo sapiens uromodulin (UMOD), transcript variant X5, mRNA. On-demand $699.00 18
Title Common noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression .
Author Trudu M, Janas S, Lanzani C, Debaix H, Schaeffer C, Ikehata M, Citterio L, Demaretz S, Trevisani F, Ristagno G, Glaudemans B, Laghmani K, Dell'Antonio G, Loffing J, Rastaldi MP, Manunta P, Devuyst O and Rampoldi L.
Journal Nat. Med. 19 (12), 1655-1660 (2013)
Title [Uromodulin - can it be a new marker of kidney damage?] .
Author Fugiel,A., Kuzniewski,M. and Fedak,D.
Journal Prz. Lek. 70 (11), 976-982 (2013)
Title Urinary uromodulin carries an intact ZP domain generated by a conserved C-terminal proteolytic cleavage .
Author Santambrogio S, Cattaneo A, Bernascone I, Schwend T, Jovine L, Bachi A and Rampoldi L.
Journal Biochem. Biophys. Res. Commun. 370 (3), 410-413 (2008)
Title Familial Juvenile Hyperuricemic Nephropathy Type 2 .
Author Kmoch,S., Zivna,M. and Bleyer,A.J.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title UMOD-Associated Kidney Disease .
Author Bleyer,A.J. and Hart,P.S.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Uromodulin (Tamm-Horsfall glycoprotein/uromucoid) is a phosphatidylinositol-linked membrane protein .
Author Rindler MJ, Naik SS, Li N, Hoops TC and Peraldi MN.
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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