CLCN5 (chloride voltage-gated channel 5)

2014-11-01  

Identity

HGNC
CLCN5
LOCATION
Xp11.23
LOCUSID
1184
ALIAS
CLC5,CLCK2,ClC-5,DENTS,NPHL1,NPHL2,XLRH,XRN,hCIC-K2
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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/deep-insight-explorer/js/welcome