| Entrez Gene ID | 1184 |
|---|---|
| Official Gene Symbol | CLCN5 (GeneCards) |
| Full name | chloride voltage-gated channel 5 |
| Location | Xp11.23 |
| Other ids | Vega : OTTHUMG00000021514 MIM : 300008 HGNC : HGNC:2023 Ensembl : ENSG00000171365 |
| Other names | XRN, CLC5, XLRH, CLCK2, ClC-5, 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] |
Found 2 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 22342 | 1184 | CLCN5 | X | 49862545 | 49862545 | Xeroderma Pigmentosum | HiSeq X Ten |
| 29943 | 1184 | CLCN5 | X | 49834668 | 49834668 | Autism Spectrum Disorders | HiSeq X Ten NextSeq500 |