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


RefSeq Accession Definition Services Price Order
NM_000084 Homo sapiens chloride channel, voltage-sensitive 5 (CLCN5), transcript variant 3, mRNA. ORF Sequence $649.89
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RefSeq Version NM_000084.3, 441703659
Length 9515 bp
Structure linear
Update Date 17-APR-2013
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)135..137
Misc Feature(3)411..524
Misc Feature(4)411..524
Misc Feature(5)483..1958
Misc Feature(6)660..731
Misc Feature(7)735..1901
Misc Feature(8)order(747..761,873..887,1605..1619,1920..1922)
Misc Feature(9)747..761
Misc Feature(10)804..863
Misc Feature(11)873..887
Misc Feature(12)879..938
Misc Feature(13)879..881
Misc Feature(14)879..881
Misc Feature(15)1050..1052
Misc Feature(16)1050..1052
Misc Feature(17)1080..1136
Misc Feature(18)1203..1283
Misc Feature(19)1302..1364
Misc Feature(20)1530..1592
Misc Feature(21)1605..1664
Misc Feature(22)1605..1619
Misc Feature(23)1851..1904
Misc Feature(24)1995..2435
Misc Feature(25)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
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 Sequence Price Select
NM_000084 Homo sapiens chloride channel, voltage-sensitive 5 (CLCN5), transcript variant 3, mRNA. Full Length Quote
ORF Sequence $649.89
NM_001127898 Homo sapiens chloride channel, voltage-sensitive 5 (CLCN5), transcript variant 2, mRNA. Full Length Quote
ORF Sequence $710.79
NM_001127899 Homo sapiens chloride channel, voltage-sensitive 5 (CLCN5), transcript variant 1, mRNA. Full Length Quote
ORF Sequence $710.79
NM_001272102 Homo sapiens chloride channel, voltage-sensitive 5 (CLCN5), transcript variant 5, mRNA. Full Length $185.60
ORF Sequence $159.00
Title Molecular effect of a novel missense mutation, L266V, on function of ClC-5 protein in a Japanese patient with Dent's disease .
Author Ashida,A., Yamamoto,D., Nakakura,H., Shirasu,A., Matsumura,H., Sekine,T., Igarashi,T. and Tamai,H.
Journal Clin. Nephrol. (2012) In press
Title An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes .
Author Addis,M., Meloni,C., Tosetto,E., Ceol,M., Cristofaro,R., Melis,M.A., Vercelloni,P., Del Prete,D., Marra,G. and Anglani,F.
Journal Eur. J. Hum. Genet. (2012) In press
Title The CLC-5 2Cl(-)/H(+) exchange transporter in endosomal function and Dent's disease .
Author Lippiat,J.D. and Smith,A.J.
Journal Front Physiol 3, 449 (2012)
Title Involvement of the tubular ClC-type exchanger ClC-5 in glomeruli of human proteinuric nephropathies .
Author Ceol,M., Tiralongo,E., Baelde,H.J., Vianello,D., Betto,G., Marangelli,A., Bonfante,L., Valente,M., Della Barbera,M., D'Angelo,A., Anglani,F. and Del Prete,D.
Journal PLoS ONE 7 (9), E45605 (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,S.E., van Bakel,I., Lloyd,S.E., Pearce,S.H., Thakker,R.V. and Craig,I.W.
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,S.E., Black,G.C., Lloyd,S.E., Hatchwell,E., Wrong,O., Thakker,R.V. and Craig,I.W.
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,M.A., Wrong,O., Wooding,C., Norden,A.G., Feest,T.G. and Thakker,R.V.
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,S.J., Pook,M.A., Wooding,C., Pang,J.T., Frymoyer,P.A. and Thakker,R.V.
Journal J. Clin. Invest. 91 (6), 2351-2357 (1993)

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