CLCN5

CLCN5
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2J9L, 2JA3
Identifiers
Aliases	CLCN5, CLC5, CLCK2, ClC-5, DENTS, NPHL1, NPHL2, XLRH, XRN, hCIC-K2, chloride voltage-gated channel 5, DENT1
External IDs	OMIM: 300008 MGI: 99486 HomoloGene: 73872 GeneCards: CLCN5
Gene location (Human)
Chr.	X chromosome (human)
End	50,099,235 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	7,185,597 bp
RNA expression pattern
	Top expressed in
	renal medulla; ; secondary oocyte; ; corpus epididymis; ; kidney; ; retinal pigment epithelium; ; jejunal mucosa; ; liver; ; germinal epithelium; ; right lobe of liver; ; caput epididymis;
	Top expressed in
	internal carotid artery; ; facial motor nucleus; ; external carotid artery; ; yolk sac; ; secondary oocyte; ; cumulus cell; ; primitive streak; ; kidney; ; sciatic nerve; ; trigeminal ganglion;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	nucleotide binding; ion channel activity; ATP binding; chloride channel activity; antiporter activity; voltage-gated chloride channel activity; identical protein binding; protein binding; solute:proton antiporter activity; chloride ion binding;
Cellular component	integral component of membrane; membrane; Golgi membrane; apical part of cell; integral component of plasma membrane; lysosomal membrane; endosome membrane; endosome; Golgi apparatus; cytosol; plasma membrane; early endosome;
Biological process	excretion; ion transport; ion transmembrane transport; regulation of anion transmembrane transport; chloride transport; chloride transmembrane transport; transmembrane transport; transport; proton transmembrane transport;
	Sources:Amigo / QuickGO
Orthologs
	1184
	12728
	ENSG00000171365
	ENSMUSG00000004317
	P51795
	Q9WVD4
	NM_000084; NM_001127898; NM_001127899; NM_001272102; NM_001282163
	NM_001243762; NM_016691
	NP_000075; NP_001121370; NP_001121371; NP_001259031; NP_001269092
	NP_001230691; NP_057900
	Wikidata
View/Edit Human	View/Edit Mouse

The CLCN5 gene encodes the chloride channel Cl-/H+ exchanger ClC-5. ClC-5 is mainly expressed in the kidney, in particular in proximal tubules where it participates to the uptake of albumin and low-molecular-weight proteins, which is one of the principal physiological role of proximal tubular cells. Mutations in the CLCN5 gene cause an X-linked recessive nephropathy named Dent disease (Dent disease 1 MIM#300009) characterized by excessive urinary loss of low-molecular-weight proteins and of calcium (hypercalciuria), nephrocalcinosis (presence of calcium phosphate aggregates in the tubular lumen and/or interstitium) and nephrolithiasis (kidney stones).

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