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CLCN5 chloride channel, voltage-sensitive 5 [Homo sapiens (human)]


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
NM_001127898 Homo sapiens chloride channel, voltage-sensitive 5 (CLCN5), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $899.00 20
NM_001127899 Homo sapiens chloride channel, voltage-sensitive 5 (CLCN5), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $899.00 20
NM_001272102 Homo sapiens chloride channel, voltage-sensitive 5 (CLCN5), transcript variant 5, mRNA. GenEZ ORF Cloning On-demand $299.00 14
NM_001282163 Homo sapiens chloride channel, voltage-sensitive 5 (CLCN5), transcript variant 4, mRNA. GenEZ ORF Cloning On-demand $899.00 20

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Gene Symbol CLCN5
Entrez Gene ID 1184
Full Name chloride channel, voltage-sensitive 5
Synonyms CLC5, CLCK2, ClC-5, DENTS, NPHL1, NPHL2, XLRH, XRN, hCIC-K2
General protein information
Preferred Names
H(+)/Cl(-) exchange transporter 5
Names
H(+)/Cl(-) exchange transporter 5
chloride transporter ClC-5
voltage-gated chloride ion channel CLCN5
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

Xp11.23-p11.22

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].
Disorder

MIM: 300008

Dent disease, 300009 (3); Nephrolithiasis, type I, 310468 (3);

mRNA Protein Product Sequence Price Select
NM_000084, 531990844 NP_000075, 4557473 H(+)/Cl(-) exchange transporter 5 isoform b ORF Sequence $490.00
NM_001127898, 531990843 NP_001121370, 189217921 H(+)/Cl(-) exchange transporter 5 isoform a ORF Sequence $750.00
NM_001127899, 531990842 NP_001121371, 189217923 H(+)/Cl(-) exchange transporter 5 isoform a ORF Sequence $750.00
NM_001272102, 442535513 NP_001259031, 442535514 H(+)/Cl(-) exchange transporter 5 isoform c ORF Sequence $150.00
NM_001282163, 531990845 NP_001269092, 531990846 H(+)/Cl(-) exchange transporter 5 isoform d ORF Sequence $750.00
Reactome
REACT_15518Transmembrane transport of small molecules
REACT_25300Ion channel transport
REACT_160189Stimuli-sensing channels
Homo sapiens (human)CLCN5NP_001121371.1
Pan troglodytes (chimpanzee)CLCN5XP_003317509.2
Macaca mulatta (Rhesus monkey)CLCN5XP_001083186.2
Canis lupus familiaris (dog)CLCN5XP_005641410.1
Bos taurus (cattle)CLCN5XP_005228237.1
Mus musculus (house mouse)Clcn5NP_001230691.1
Rattus norvegicus (Norway rat)Clcn5NP_058802.1
Gallus gallus (chicken)CLCN5XP_004940778.1
Danio rerio (zebrafish)si:dkey-22f5.8XP_001920783.2
Danio rerio (zebrafish)LOC557584XP_685762.2
Xenopus (Silurana) tropicalis (western clawed frog)clcn5NP_001039210.1
Process
IDNameEvidence
GO:0006810transportTAS
GO:0006897endocytosisIEA
GO:0007588excretionTAS
GO:0034220ion transmembrane transportTAS
GO:0044070regulation of anion transportIEA
GO:0055085transmembrane transportTAS
GO:1902476chloride transmembrane transportTAS
Component
IDNameEvidence
GO:0000139Golgi membraneIEA
GO:0005765lysosomal membraneIDA
GO:0005887integral component of plasma membraneTAS
GO:0010008endosome membraneTAS
GO:0016020membraneIDA
GO:0045177apical part of cellIDA
Function
IDNameEvidence
GO:0005247voltage-gated chloride channel activityIEA
GO:0005254chloride channel activityTAS
GO:0005524ATP bindingIEA
GO:0015297antiporter activityIEA
GeneCards CLCN5
UniProt B3KRR2, P51795, V9GYG7, A8K4H5
Vega OTTHUMG00000021514
MIM 300008
Ensembl ENSG00000171365
HGNC 2023
HPRD 02053

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the CLCN5 gene?

The CLCN5 gene provides instructions for making a protein called ClC-5 that transports charged atoms (ions) across cell membranes. Specifically, ClC-5 exchanges negatively charged atoms of chlorine (chloride ions) for positively charged atoms of hydrogen (protons or hydrogen ions). Based on this function, ClC-5 is known as a H+/Cl- exchanger.

ClC-5 is found primarily in the kidneys, particularly in structures called proximal tubules. These structures help to reabsorb nutrients, water, and other materials that have been filtered from the bloodstream. The kidneys reabsorb needed materials into the blood and excrete everything else into the urine.

Within proximal tubule cells, ClC-5 is embedded in specialized compartments called endosomes. Endosomes are formed at the cell surface to carry proteins and other molecules to their destinations within the cell. ClC-5 transports hydrogen ions into endosomes and chloride ions out, which helps these compartments maintain the proper acidity level (pH). Endosomal pH levels must be tightly regulated for proximal tubule cells to function properly.

Interactant

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