Product Name
CLCN5, cDNA Clone
Full Product Name
CLCN5 cDNA Clone
Product Gene Name
CLCN5 cdna clone
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence
atggacttct tggaggagcc aatccctggt gtagggacct atgatgattt caatacaatt gattgggtga gagagaagtc tcgagaccgg gataggcacc gagagattac caataaaagc aaagagtcaa catgggcctt aattcacagt gtgagtgatg ctttttccgg ctggttgttg atgctcctta ttgggctttt atcaggttcg ttagctggtt tgatagacat ctctgctcat tggatgacag acttaaaaga aggtatatgc acagggggat tctggtttaa ccatgaacat tgttgctgga actctgagca tgtcaccttt gaagagagag acaaatgtcc agagtggaat agttggtccc agcttatcat cagcacagat gagggagcct ttgcctacat agtcaattat ttcatgtacg tcctctgggc tctcctattt gccttccttg ccgtatctct tgtcaaggtg tttgcgcctt atgcctgtgg ctctggaatc cctgagataa aaactatctt gagtggtttc attattaggg gctatttggg taagtggact ctggttatca aaaccatcac cttggtgctg gcagtgtcgt ctggcttgag cctgggcaaa gagggccctc tagtgcacgt ggcttgctgc tgtgggaaca tcctgtgcca ctgcttcaac aaatacagga agaatgaagc caagcgcaga gaggtcttgt cggctgcagc agcagctggt gtatctgtag cctttggagc acctataggt ggagtattat tcagccttga agaggtcagc tactattttc ccctcaaaac attgtggcgt tcattctttg ctgccttggt ggcagcattc actctacgct ccatcaatcc atttgggaac agccgcctgg tactatttta tgtggagttt cacaccccat ggcatctctt tgagctcgtg ccattcattc tgctgggcat atttggtggt ctgtggggag cactgtttat ccgcacaaac attgcctggt gtcggaagcg aaagaccacc cagttgggca agtatcctgt tatagaggta ctcgtcgtga cagccatcac tgccatcctg gctttcccca atgaatacac tcggatgagc acaagtgagc tcatttctga gctgtttaat gactgtggcc ttctggactc ctccaagctc tgtgattatg agaaccgttt caacacaagc aaagggggtg aactgcctga cagaccggct ggcgtgggag tctacagtgc aatgtggcag ctggctttaa cactcatact gaaaattgtc attactatat tcacctttgg catgaagatc ccttctggcc tctttatccc tagcatggct gttggtgcta tagcaggtcg acttctagga gtaggaatgg aacagctggc ttattaccac caggaatgga ccgtcttcaa tagctggtgt agtcagggag ctgattgcat cacccccggc ctttatgcaa tggttggggc tgcagcctgc ttaggtgggg tgactcggat gactgtttct cttgttgtca taatgtttga actgactggt ggcttagaat acatcgtgcc tctgatggct gcagccatga caagcaagtg ggtggcagat gctcttgggc gggagggcat ctatgatgcc cacatccgtc tcaatggata cccctttctt gaagccaaag aagagtttgc tcataagacc ctggcaatgg atgtgatgaa accccggaga aatgatcctt tgttgactgt ccttactcag gacagtatga ctgtggaaga tgtagagacc ataatcagtg aaaccactta cagtggcttc ccagtggtgg tatcccggga gtcccaaaga cttgtgggct ttgtcctccg aagagatctc attatttcaa ttgaaaatgc tcgaaagaaa caggatgggg ttgttagcac ttccatcatt tatttcacgg agcattctcc tccattgcca ccatacactc cacccactct aaagcttcgg aacatcctcg atctcagccc cttcactgtg actgacctta cacccatgga gatcgtagtg gatattttcc gaaagctggg actgcggcag tgcctggtta cacacaacgg gcgattgctt ggaatcatta ccaaaaagga tgtgttaaag catatagcac agatggcgaa ccaagatcct gattccattc tcttcaacta g
ISO Certification
Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.
Other Notes
Small volumes of CLCN5 cdna clone vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
NCBI/Uniprot data below describe general gene information for CLCN5. It may not necessarily be applicable to this product.
NCBI Accession #
BC130429
[Other Products]
UniProt Secondary Accession #
Q5JQD5; Q7RTN8; A1L475; B3KPN6[Other Products]
UniProt Related Accession #
P51795[Other Products]
Molecular Weight
90,785 Da
NCBI Official Full Name
Homo sapiens chloride channel 5, mRNA
NCBI Official Synonym Full Names
chloride voltage-gated channel 5
NCBI Official Symbol
CLCN5??[Similar Products]
NCBI Official Synonym Symbols
XRN; CLC5; XLRH; CLCK2; ClC-5; DENTS; NPHL1; NPHL2; hCIC-K2
??[Similar Products]
NCBI Protein Information
H(+)/Cl(-) exchange transporter 5
UniProt Protein Name
H(+)/Cl(-) exchange transporter 5
UniProt Synonym Protein Names
Chloride channel protein 5; ClC-5; Chloride transporter ClC-5
Protein Family
H(+)/Cl(-) exchange transporter
UniProt Gene Name
CLCN5??[Similar Products]
UniProt Synonym Gene Names
CLCK2; ClC-5??[Similar Products]
UniProt Entry Name
CLCN5_HUMAN
NCBI Summary for CLCN5
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]
UniProt Comments for CLCN5
CLCN5 iso2: Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons. Important for normal acidification of the endosome lumen. May play an important role in renal tubular function. Defects in CLCN5 are a cause of hypophosphatemic rickets, X-linked recessive (XLRHR). XLRHR is a renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. XLRH patients present with rickets or osteomalacia, hypophosphatemia due to decreased renal tubular phosphate reabsorption, hypercalciuria, and low molecular weight proteinuria. Patients develop nephrocalcinosis with progressive renal failure in *****hood. Female carriers may have asymptomatic hypercalciuria or hypophosphatemia only. Defects in CLCN5 are the cause of nephrolithiasis type 2 (NPHL2); also known as Dent disease 1. NPHL2 is an X- linked recessive renal disease belonging to the 'Dent disease complex'. NPHL2 patients manifest hypercalciuria, hypophosphatemia, aminoaciduria, nephrocalcinosis and nephrolithiasis, renal insufficiency leading to renal failure in *****hood, rickets (33% of patients) and osteomalacia. Defects in CLCN5 are the cause of nephrolithiasis type 1 (NPHL1); also designated XRN. NPHL1 is an X-linked recessive renal disease belonging to the 'Dent disease complex'. NPHL1 presents with hypercalciuria, nephrocalcinosis, renal stones and renal insufficiency. Patients lack urinary acidification defects, rickets, and osteomalacia. Defects in CLCN5 are the cause of low molecular weight proteinuria with hypercalciuria and nephrocalcinosis (LMWPHN). LMWPHN is an X-linked renal disease belonging to the 'Dent disease complex'. Patients tend to have hypercalciuric nephrocalcinosis without rickets or renal failure. Belongs to the chloride channel (TC 2.A.49) family. ClC-5/CLCN5 subfamily. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, integral; Membrane protein, multi-pass; Transporter; Transporter, ion channel
Chromosomal Location of Human Ortholog: Xp11.23-p11.22
Cellular Component: apical part of cell; endosome; endosome membrane; integral to plasma membrane; lysosomal membrane; membrane
Molecular Function: antiporter activity; chloride channel activity; chloride ion binding; voltage-gated chloride channel activity
Biological Process: excretion; transport
Disease: Dent Disease 1; Hypophosphatemic Rickets, X-linked Recessive; Nephrolithiasis, X-linked Recessive, With Renal Failure; Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Research Articles on CLCN5
1. Previously reported mutations and their associated phenotype in 377 male patients with Dent disease are reviewed and described phenotype and novel and recurrent mutations in a large cohort of 117 Dent disease patients belonging to 90 families.
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Disclaimer
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