NP_000075.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
H(+)/Cl(-) exchange transporter 5 isoform b
NCBI Official Synonym Full Names
chloride channel, voltage-sensitive 5
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
UniProt Synonym Gene Names
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 adulthood. 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 adulthood, 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: Transporter; Membrane protein, multi-pass; Transporter, ion channel; Membrane protein, integral
Chromosomal Location of Human Ortholog: Xp11.23-p11.22
Cellular Component: Golgi membrane; membrane; lysosomal membrane; apical part of cell; integral to plasma membrane; endosome membrane
Molecular Function: chloride channel activity; voltage-gated chloride channel activity; ATP binding; antiporter activity
Biological Process: transport; endocytosis; excretion; transmembrane transport
Disease: Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis; Nephrolithiasis, X-linked Recessive, With Renal Failure; Dent Disease 1; Hypophosphatemic Rickets, X-linked Recessive
Product References and Citations for anti-CLCN5 antibody
Smith, A.J., et al. FASEB J. 24(10):3696-3705(2010) Wellhauser, L., et al. Pflugers Arch. 460(2):543-557(2010) Smith, A.J., et al. J. Physiol. (Lond.) 588 (PT 12), 2033-2045 (2010) : Picollo, A., et al. J. Gen. Physiol. 135(6):653-659(2010) Reed, A.A., et al. Am. J. Physiol. Renal Physiol. 298 (2), F365-F380 (2010) :
Research Articles on CLCN5
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Pathways associated with anti-CLCN5 antibody
Diseases associated with anti-CLCN5 antibody
Organs/Tissues associated with anti-CLCN5 antibody
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