CLCN5 (chloride voltage-gated channel 5)

2014-11-01  

Identity

HGNC
LOCATION
Xp11.23
LOCUSID
ALIAS
CLC5,CLCK2,ClC-5,DENTS,NPHL1,NPHL2,XLRH,XRN,hCIC-K2
FUSION GENES

Other Information

Locus ID:

NCBI: 1184
MIM: 300008
HGNC: 2023
Ensembl: ENSG00000171365

Variants:

dbSNP: 1184
ClinVar: 1184
TCGA: ENSG00000171365
COSMIC: CLCN5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000171365ENST00000307367P51795
ENSG00000171365ENST00000376088P51795
ENSG00000171365ENST00000376091P51795
ENSG00000171365ENST00000376108P51795
ENSG00000171365ENST00000482218V9GYG7
ENSG00000171365ENST00000642383A0A2R8YGW0
ENSG00000171365ENST00000642885P51795
ENSG00000171365ENST00000643129A0A2R8YF14
ENSG00000171365ENST00000646398A0A2R8Y6C4

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
380615272024Dent disease 1-linked novel CLCN5 mutations result in aberrant location and reduced ion currents.1
380615272024Dent disease 1-linked novel CLCN5 mutations result in aberrant location and reduced ion currents.1
366460562023A Study on the CLCN5 Gene in Iranian Patients: A Report of Novel and Recurrent Mutations.0
366748292023Emerging Perspectives on the Rare Tubulopathy Dent Disease: Is Glomerular Damage a Direct Consequence of ClC-5 Dysfunction?3
375946712023Human parietal epithelial cells (PECs) and proteinuria in lupus nephritis: a role for ClC-5, megalin, and cubilin?0
366460562023A Study on the CLCN5 Gene in Iranian Patients: A Report of Novel and Recurrent Mutations.0
366748292023Emerging Perspectives on the Rare Tubulopathy Dent Disease: Is Glomerular Damage a Direct Consequence of ClC-5 Dysfunction?3
375946712023Human parietal epithelial cells (PECs) and proteinuria in lupus nephritis: a role for ClC-5, megalin, and cubilin?0
308526632020Prevalence of low molecular weight proteinuria and Dent disease 1 CLCN5 mutations in proteinuric cohorts.8
316740162020Multicenter study of the clinical features and mutation gene spectrum of Chinese children with Dent disease.11
318527382020Cl(-) and H(+) coupling properties and subcellular localizations of wildtype and disease-associated variants of the voltage-gated Cl(-)/H(+) exchanger ClC-5.6
320197672020CLCN5 5'UTR isoforms in human kidneys: differential expression analysis between controls and patients with glomerulonephritis.1
322019162020Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1.7
324954842020Phenotypic spectrum and antialbuminuric response to angiotensin converting enzyme inhibitor and angiotensin receptor blocker therapy in pediatric Dent disease.5
308526632020Prevalence 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/favicon/cancer-prone-explorer/css/card-gene.css