CLCN5 - chloride channel 5
Entrez Gene Name: chloride channel 5
Entrez GeneID: Human(1184)
, Mouse(12728), Rat(25749)
, Mouse(12728), Rat(25749) Synonyms: 5430408K11RIK, CLC5, CLCK2, CLCN5, D930009B12Rik, DENTS, DXImx42e, hCIC-K2, hClC-K2, LOC158563, NPHL1, NPHL2, Sfc13, T25545, XLRH, XRN
Gene Summary
- Human (1184): This gene encodes a member of the ClC family of chloride ion channels and ion transporters. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]
- Rat (25749): acts as an outwardly rectifying chloride channel; plays a role in chloride transport [RGD]
Molecular Functions | Biological Process | Cellular Components | Protein Domains | Subcellular Locations | Pathways | Literature References | IPA Extras
Cell Regulation
Cellular Components
cytoplasm, endosome, endosome membrane, Golgi apparatus, Golgi membrane, integral to membrane, integral to plasma membrane, membrane, mitochondrion, nucleolus, nucleus
Literature References
- 11099045Piwon N, Günther W, Schwake M, Bösl MR, Jentsch TJ. ClC-5 Cl- -channel disruption impairs endocytosis in a mouse model for Dent's disease.Nature 2000 Nov 16;408(6810):369-73
- 12815097Christensen EI, Devuyst O, Dom G, Nielsen R, Van Der Smissen P, Verroust P, Leruth M, Guggino WB, Courtoy PJ. Loss of chloride channel ClC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules.Proc Natl Acad Sci U S A 2003 07 8;100(14):8472-7
- 12843258Olsen ML, Schade S, Lyons SA, Amaral MD, Sontheimer H. Expression of Voltage-Gated Chloride Channels in Human Glioma Cells.J Neurosci 2003 Jul 2;23(13):5572-5582 View 132 categorized literature findings and their references in IPA
Molecular Functions
chloride channel activity, chloride ion binding, ion channel activity, voltage-gated chloride channel activity, voltage-gated ion channel activity
Protein Domains
carboxy terminal domain, CBS domain, ion channel, proline tyrosine motif, voltage-gated chloride channel
Subcellular Locations
apical membrane, cellular membrane, cytoplasm, cytoplasmic vesicles, endosomes, Golgi apparatus, lamellipodia, plasma membrane, recycling endosomes, vesicles
