Identity
HGNC
LOCATION
Xp11.23
LOCUSID
ALIAS
CLC5,CLCK2,ClC-5,DENTS,NPHL1,NPHL2,XLRH,XRN,hCIC-K2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1184
MIM: 300008
HGNC: 2023
Ensembl: ENSG00000171365
Variants:
dbSNP: 1184
ClinVar: 1184
TCGA: ENSG00000171365
COSMIC: CLCN5
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Transmembrane transport of small molecules | REACTOME | R-HSA-382551 |
| Ion channel transport | REACTOME | R-HSA-983712 |
| Stimuli-sensing channels | REACTOME | R-HSA-2672351 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38061527 | 2024 | Dent disease 1-linked novel CLCN5 mutations result in aberrant location and reduced ion currents. | 1 |
| 38061527 | 2024 | Dent disease 1-linked novel CLCN5 mutations result in aberrant location and reduced ion currents. | 1 |
| 36646056 | 2023 | A Study on the CLCN5 Gene in Iranian Patients: A Report of Novel and Recurrent Mutations. | 0 |
| 36674829 | 2023 | Emerging Perspectives on the Rare Tubulopathy Dent Disease: Is Glomerular Damage a Direct Consequence of ClC-5 Dysfunction? | 3 |
| 37594671 | 2023 | Human parietal epithelial cells (PECs) and proteinuria in lupus nephritis: a role for ClC-5, megalin, and cubilin? | 0 |
| 36646056 | 2023 | A Study on the CLCN5 Gene in Iranian Patients: A Report of Novel and Recurrent Mutations. | 0 |
| 36674829 | 2023 | Emerging Perspectives on the Rare Tubulopathy Dent Disease: Is Glomerular Damage a Direct Consequence of ClC-5 Dysfunction? | 3 |
| 37594671 | 2023 | Human parietal epithelial cells (PECs) and proteinuria in lupus nephritis: a role for ClC-5, megalin, and cubilin? | 0 |
| 30852663 | 2020 | Prevalence of low molecular weight proteinuria and Dent disease 1 CLCN5 mutations in proteinuric cohorts. | 8 |
| 31674016 | 2020 | Multicenter study of the clinical features and mutation gene spectrum of Chinese children with Dent disease. | 11 |
| 31852738 | 2020 | Cl(-) and H(+) coupling properties and subcellular localizations of wildtype and disease-associated variants of the voltage-gated Cl(-)/H(+) exchanger ClC-5. | 6 |
| 32019767 | 2020 | CLCN5 5'UTR isoforms in human kidneys: differential expression analysis between controls and patients with glomerulonephritis. | 1 |
| 32201916 | 2020 | Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1. | 7 |
| 32495484 | 2020 | Phenotypic spectrum and antialbuminuric response to angiotensin converting enzyme inhibitor and angiotensin receptor blocker therapy in pediatric Dent disease. | 5 |
| 30852663 | 2020 | Prevalence of low molecular weight proteinuria and Dent disease 1 CLCN5 mutations in proteinuric cohorts. | 8 |
Citation
Dessen P
CLCN5 (chloride voltage-gated channel 5)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/61853/clcn5-(chloride-voltage-gated-channel-5)
