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Homo sapiens chloride channel, voltage-sensitive 5 (CLCN5), transcript variant 3, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000084 Homo sapiens chloride channel, voltage-sensitive 5 (CLCN5), transcript variant 3, mRNA. GenEZ ORF Cloning In-stock $639.00 $590.00 15

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RefSeq Version NM_000084.4, 531990844
Length 9515 bp
Structure linear
Update Date 05-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens chloride channel, voltage-sensitive 5 (CLCN5), transcript variant 3, mRNA.
Product H(+)/Cl(-) exchange transporter 5 isoform b
Comment

Summary: This gene encodes a member of the ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin uptake by the renal proximal tubule. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013].


Transcript Variant: This variant (3, also known as type 3) lacks several 5' exons but has an alternate 5' exon, and it thus differs in the 5' UTR and uses a downstream start codon, compared to variant 1. The resulting isoform (b) has a shorter N-terminus, compared to isoform a.


Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

RefSeq NP_000075.1
CDS 249..2489
Misc Feature(1)135..137
Misc Feature(2)411..524
Misc Feature(3)411..524
Misc Feature(4)462..1958
Misc Feature(5)660..731
Misc Feature(6)order(747..761,873..887,1605..1619,1920..1922)
Misc Feature(7)747..761
Misc Feature(8)804..863
Misc Feature(9)873..887
Misc Feature(10)879..938
Misc Feature(11)879..881
Misc Feature(12)879..881
Misc Feature(13)1050..1052
Misc Feature(14)1050..1052
Misc Feature(15)1080..1136
Misc Feature(16)1203..1283
Misc Feature(17)1302..1364
Misc Feature(18)1530..1592
Misc Feature(19)1605..1664
Misc Feature(20)1605..1619
Misc Feature(21)1851..1904
Misc Feature(22)1995..2435
Misc Feature(23)2031..2441
Exon (1)1..201
Gene:CLCN5
Gene Synonym:ClC-5; CLC5; CLCK2; DENTS; hCIC-K2; NPHL1; NPHL2; XLRH; XRN
Exon (2)202..353
Gene:CLCN5
Gene Synonym:ClC-5; CLC5; CLCK2; DENTS; hCIC-K2; NPHL1; NPHL2; XLRH; XRN
Exon (3)354..453
Gene:CLCN5
Gene Synonym:ClC-5; CLC5; CLCK2; DENTS; hCIC-K2; NPHL1; NPHL2; XLRH; XRN
Exon (4)454..641
Gene:CLCN5
Gene Synonym:ClC-5; CLC5; CLCK2; DENTS; hCIC-K2; NPHL1; NPHL2; XLRH; XRN
Exon (5)642..764
Gene:CLCN5
Gene Synonym:ClC-5; CLC5; CLCK2; DENTS; hCIC-K2; NPHL1; NPHL2; XLRH; XRN
Exon (6)765..971
Gene:CLCN5
Gene Synonym:ClC-5; CLC5; CLCK2; DENTS; hCIC-K2; NPHL1; NPHL2; XLRH; XRN
Exon (7)972..1052
Gene:CLCN5
Gene Synonym:ClC-5; CLC5; CLCK2; DENTS; hCIC-K2; NPHL1; NPHL2; XLRH; XRN
Exon (8)1053..1595
Gene:CLCN5
Gene Synonym:ClC-5; CLC5; CLCK2; DENTS; hCIC-K2; NPHL1; NPHL2; XLRH; XRN
Exon (9)1596..1782
Gene:CLCN5
Gene Synonym:ClC-5; CLC5; CLCK2; DENTS; hCIC-K2; NPHL1; NPHL2; XLRH; XRN
Exon (10)1783..2181
Gene:CLCN5
Gene Synonym:ClC-5; CLC5; CLCK2; DENTS; hCIC-K2; NPHL1; NPHL2; XLRH; XRN
Exon (11)2182..2398
Gene:CLCN5
Gene Synonym:ClC-5; CLC5; CLCK2; DENTS; hCIC-K2; NPHL1; NPHL2; XLRH; XRN
Exon (12)2399..9505
Gene:CLCN5
Gene Synonym:ClC-5; CLC5; CLCK2; DENTS; hCIC-K2; NPHL1; NPHL2; XLRH; XRN
Translation MDFLEEPIPGVGTYDDFNTIDWVREKSRDRDRHREITNKSKESTWALIHSVSDAFSGWLL MLLIGLLSGSLAGLIDISAHWMTDLKEGICTGGFWFNHEHCCWNSEHVTFEERDKCPEWN SWSQLIISTDEGAFAYIVNYFMYVLWALLFAFLAVSLVKVFAPYACGSGIPEIKTILSGF IIRGYLGKWTLVIKTITLVLAVSSGLSLGKEGPLVHVACCCGNILCHCFNKYRKNEAKRR EVLSAAAAAGVSVAFGAPIGGVLFSLEEVSYYFPLKTLWRSFFAALVAAFTLRSINPFGN SRLVLFYVEFHTPWHLFELVPFILLGIFGGLWGALFIRTNIAWCRKRKTTQLGKYPVIEV LVVTAITAILAFPNEYTRMSTSELISELFNDCGLLDSSKLCDYENRFNTSKGGELPDRPA GVGVYSAMWQLALTLILKIVITIFTFGMKIPSGLFIPSMAVGAIAGRLLGVGMEQLAYYH QEWTVFNSWCSQGADCITPGLYAMVGAAACLGGVTRMTVSLVVIMFELTGGLEYIVPLMA AAMTSKWVADALGREGIYDAHIRLNGYPFLEAKEEFAHKTLAMDVMKPRRNDPLLTVLTQ DSMTVEDVETIISETTYSGFPVVVSRESQRLVGFVLRRDLIISIENARKKQDGVVSTSII YFTEHSPPLPPYTPPTLKLRNILDLSPFTVTDLTPMEIVVDIFRKLGLRQCLVTHNGRLL GIITKKDVLKHIAQMANQDPDSILFN
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Position Chain Variation Link
23+dbSNP:
23+a, gdbSNP:150494273
223+dbSNP:
223+a, gdbSNP:368887625
331+a, gdbSNP:372219090
336+c, tdbSNP:200225080
369+dbSNP:
369+a, cdbSNP:376833330
418+g, tdbSNP:151340629
455+dbSNP:
455+c, tdbSNP:113780806
458+a, gdbSNP:376292808
524+c, gdbSNP:144384766
552+c, tdbSNP:369495199
592+a, gdbSNP:55676763
655+dbSNP:
655+a, gdbSNP:376001902
672+a, tdbSNP:142498911
674+c, tdbSNP:34800648
711+a, gdbSNP:200390605
727+c, tdbSNP:368674238
734+a, gdbSNP:140312372
834+dbSNP:
834+a, gdbSNP:200953235
847+g, tdbSNP:151340622
857+c, tdbSNP:34464675
905+c, tdbSNP:387907402
922+c, tdbSNP:273585645
964+a, gdbSNP:147798092
979+dbSNP:
979+c, tdbSNP:151340626
1027+g, tdbSNP:151340630
1063+dbSNP:
1063+a, gdbSNP:273585644
1067..1068+, tdbSNP:34804348
1082+c, gdbSNP:273585648
1085+a, gdbSNP:151340620
1087+c, gdbSNP:151340628
1137+c, gdbSNP:140252466
1163+a, gdbSNP:185647748
1179+c, tdbSNP:149944303
1241+c, gdbSNP:34122840
1268+a, cdbSNP:273585646
1276+a, gdbSNP:151340627
1282+a, gdbSNP:190451218
1295+c, tdbSNP:144901347
1300+a, gdbSNP:375493316
1334+c, tdbSNP:138798837
1335+a, gdbSNP:140514551
1460+a, gdbSNP:199594074
1511+c, tdbSNP:145670120
1512+a, gdbSNP:368039993
1626+dbSNP:
1626+a, gdbSNP:61748844
1673+g, tdbSNP:148124447
1700+c, tdbSNP:201928091
1701+a, gdbSNP:141943808
1765+a, gdbSNP:151340625
1785+dbSNP:
1785+a, gdbSNP:273585647
1806+c, tdbSNP:151340623
1853+c, tdbSNP:150674219
1866+a, gdbSNP:387907403
1885+a, gdbSNP:273585649
1887+g, tdbSNP:273585650
1890+a, gdbSNP:375399850
1946+a, gdbSNP:143279729
1952+a, gdbSNP:34173954
1988+a, cdbSNP:181954380
2014+a, gdbSNP:140246004
2022+a, gdbSNP:387907404
2190+dbSNP:
2190+c, tdbSNP:151340621
2218+c, gdbSNP:144207967
2239+a, cdbSNP:147378499
2259+c, tdbSNP:369687094
2263+a, gdbSNP:367829266
2308+a, cdbSNP:188134357
2343+a, gdbSNP:201962580
2358+c, tdbSNP:151340624
2389+c, tdbSNP:200006437
2401+dbSNP:
2401+a, gdbSNP:61739326
2456+a, gdbSNP:370200814
2482+a, tdbSNP:201387004
2514+c, tdbSNP:373008304
2533+a, cdbSNP:377734255
2639+a, gdbSNP:372916883
2838+a, gdbSNP:111438914
3048+a, gdbSNP:375542213
3358+a, gdbSNP:139746970
3491+a, cdbSNP:186567619
3561+a, tdbSNP:189786783
3637+g, tdbSNP:369857401
3677+a, gdbSNP:182398750
3939+c, tdbSNP:12835125
3959+c, tdbSNP:186889927
4007+c, tdbSNP:191668683
4028..4029+, adbSNP:201840291
4089+a, gdbSNP:12859644
4362+c, tdbSNP:183310810
4558+c, tdbSNP:188181306
4571+a, cdbSNP:193198907
4787+a, cdbSNP:185508520
4940+a, cdbSNP:12687955
4949+a, gdbSNP:111452206
5001+a, gdbSNP:189447604
5038+c, tdbSNP:111369735
5048+a, gdbSNP:191193181
5349+c, tdbSNP:140913229
5469+a, gdbSNP:56147923
5744+c, tdbSNP:112868450
5898+a, gdbSNP:59126550
5984+a, gdbSNP:183523710
6012+c, tdbSNP:141664495
6093+a, cdbSNP:145926268
6141+c, tdbSNP:56657044
6159+a, gdbSNP:188212225
6394+c, tdbSNP:370025077
6418..6419+, gdbSNP:34422320
6681+c, tdbSNP:148902882
7024+a, gdbSNP:181122193
7035+a, gdbSNP:186758197
7068+a, gdbSNP:189953178
complement(7181)-t, cdbSNP:143625654
7320+g, tdbSNP:12845771
7322+a, gdbSNP:12837391
7628+c, tdbSNP:375667201
7629+a, gdbSNP:182121138
7633+c, tdbSNP:111560086
7750+c, tdbSNP:141613465
7882+g, tdbSNP:150091305
8445+c, tdbSNP:932286
complement(8632)-t, cdbSNP:141665472
8652+c, tdbSNP:41312128
8680+a, cdbSNP:1045344
8976+g, tdbSNP:3177293
9130+c, tdbSNP:146363868
9444+c, gdbSNP:186369163
9452+a, cdbSNP:190935783
Gene SymbolCLCN5
Gene SynonymClC-5; CLC5; CLCK2; DENTS; hCIC-K2; NPHL1; NPHL2; XLRH; XRN
ChromosomeX
Locus MapXp11.23-p11.22
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001272102 Homo sapiens chloride channel, voltage-sensitive 5 (CLCN5), transcript variant 5, mRNA. On-demand $299.00 14
NM_001282163 Homo sapiens chloride channel, voltage-sensitive 5 (CLCN5), transcript variant 4, mRNA. On-demand $899.00 20
NM_000084 Homo sapiens chloride channel, voltage-sensitive 5 (CLCN5), transcript variant 3, mRNA. In-stock $639.00 $590.00 15
NM_001127898 Homo sapiens chloride channel, voltage-sensitive 5 (CLCN5), transcript variant 2, mRNA. On-demand $899.00 20
NM_001127899 Homo sapiens chloride channel, voltage-sensitive 5 (CLCN5), transcript variant 1, mRNA. On-demand $899.00 20
Title Conformational defects underlie proteasomal degradation of Dent's disease-causing mutants of ClC-5 .
Author D'Antonio C, Molinski S, Ahmadi S, Huan LJ, Wellhauser L and Bear CE.
Journal Biochem. J. 452 (3), 391-400 (2013)
Title Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients .
Author Gorvin CM, Wilmer MJ, Piret SE, Harding B, van den Heuvel LP, Wrong O, Jat PS, Lippiat JD, Levtchenko EN and Thakker RV.
Journal Proc. Natl. Acad. Sci. U.S.A. 110 (17), 7014-7019 (2013)
Title The CLC-5 2Cl(-)/H(+) exchange transporter in endosomal function and Dent's disease .
Author Lippiat JD and Smith AJ.
Journal Front Physiol 3, 449 (2012)
Title Four additional CLCN5 exons encode a widely expressed novel long CLC-5 isoform but fail to explain Dent's phenotype in patients without mutations in the short variant .
Author Ludwig M, Waldegger S, Nuutinen M, Bokenkamp A, Reissinger A, Steckelbroeck S and Utsch B.
Journal Kidney Blood Press. Res. 26 (3), 176-184 (2003)
Title Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis) .
Author Fisher SE, van Bakel I, Lloyd SE, Pearce SH, Thakker RV and Craig IW.
Journal Genomics 29 (3), 598-606 (1995)
Title Hypercalciuria and nephrocalcinosis in patients with idiopathic low-molecular-weight proteinuria in Japan: is the disease identical to Dent's disease in United Kingdom? .
Author Igarashi T, Hayakawa H, Shiraga H, Kawato H, Yan K, Kawaguchi H, Yamanaka T, Tsuchida S and Akagi K.
Journal Nephron 69 (3), 242-247 (1995)
Title Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis) .
Author Fisher SE, Black GC, Lloyd SE, Hatchwell E, Wrong O, Thakker RV and Craig IW.
Journal Hum. Mol. Genet. 3 (11), 2053-2059 (1994)
Title Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22 .
Author Pook MA, Wrong O, Wooding C, Norden AG, Feest TG and Thakker RV.
Journal Hum. Mol. Genet. 2 (12), 2129-2134 (1993)
Title Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies .
Author Scheinman SJ, Pook MA, Wooding C, Pang JT, Frymoyer PA and Thakker RV.
Journal J. Clin. Invest. 91 (6), 2351-2357 (1993)
Title Dent Disease .
Author Lieske,J.C., Milliner,D.S., Beara-Lasic,L. and Rossetti,S.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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