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; OMA:CLCN5 - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xp11.23 Start 49,922,596 bp[1] End 50,099,235 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X A1.1|X 3.21 cM Start 7,020,049 bp[2] End 7,185,597 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in renal medulla secondary oocyte corpus epididymis human kidney gonad cartilage tissue retinal pigment epithelium jejunal mucosa liver testicle Top expressed in internal carotid artery facial motor nucleus migratory enteric neural crest cell external carotid artery zygote yolk sac secondary oocyte cumulus cell primitive streak mandibular prominence More reference expression data BioGPS 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 Species Human Mouse Entrez 1184 12728 Ensembl ENSG00000171365 ENSMUSG00000004317 UniProt P51795 Q9WVD4 RefSeq (mRNA) NM_000084 NM_001127898 NM_001127899 NM_001272102 NM_001282163 NM_001243762 NM_016691 RefSeq (protein) NP_000075 NP_001121370 NP_001121371 NP_001259031 NP_001269092 NP_001230691 NP_057900 Location (UCSC) Chr X: 49.92 – 50.1 Mb Chr X: 7.02 – 7.19 Mb PubMed search [3] [4]
Wikidata
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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).