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
160344212005Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5.170
171958472007Nucleotide recognition by the cytoplasmic domain of the human chloride transporter ClC-5.65
191319662009Conversion of the 2 Cl(-)/1 H+ antiporter ClC-5 in a NO3(-)/H+ antiporter by a single point mutation.46
150868992004Evidence for genetic heterogeneity in Dent's disease.23
197139622009Intracellular regulation of human ClC-5 by adenine nucleotides.23
198063682009Dent's disease manifesting as focal glomerulosclerosis: Is it the tip of the iceberg?22
205017962010Voltage-dependent charge movement associated with activation of the CLC-5 2Cl-/1H+ exchanger.22
199400362010CLC-5 and KIF3B interact to facilitate CLC-5 plasma membrane expression, endocytosis, and microtubular transport: relevance to pathophysiology of Dent's disease.21
129042892003Cofilin interacts with ClC-5 and regulates albumin uptake in proximal tubule cell lines.19
204212842010Direct endosomal acidification by the outwardly rectifying CLC-5 Cl(-)/H(+) exchanger.19

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)