CLCN5, Official Symbol CLCN5provided by HGNC Official Full Name chloride voltage-gated channel 5provided by HGNC Primary source HGNC:HGNC:2023 See related Ensembl:ENSG00000171365 MIM:300008; AllianceGenome:HGNC:2023 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as XRN; CLC5; XLRH; CLCK2; ClC-5; DENT1; DENTS; NPHL1; NPHL2; hCIC-K2 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] Expression Biased expression in kidney (RPKM 20.4), liver (RPKM 3.6) and 13 other tissues See more Orthologs mouse all