CLCN6 (chloride voltage-gated channel 6)

2003-05-01  

Identity

HGNC
LOCATION
1p36.22
LOCUSID
ALIAS
CLC-6,CONRIBA
FUSION GENES

Other Information

Locus ID:

NCBI: 1185
MIM: 602726
HGNC: 2024
Ensembl: ENSG00000011021

Variants:

dbSNP: 1185
ClinVar: 1185
TCGA: ENSG00000011021
COSMIC: CLCN6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000011021ENST00000312413P51797
ENSG00000011021ENST00000346436P51797
ENSG00000011021ENST00000376496P51797
ENSG00000011021ENST00000400892A0A3B3IRY0

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351
Oncogenic MAPK signalingREACTOMER-HSA-6802957
Signaling by BRAF and RAF fusionsREACTOMER-HSA-6802952

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447216SchizophreniaDiseaseClinicalAnnotationassociatedPD17976958
PA452233antipsychoticsChemicalClinicalAnnotationassociatedPD17976958

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
198984822009Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy.84
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
204667232010The late endosomal ClC-6 mediates proton/chloride countertransport in heterologous plasma membrane expression.34
210600062010Genetic architecture of ambulatory blood pressure in the general population: insights from cardiovascular gene-centric array.30
204160772010Identification of type 2 diabetes-associated combination of SNPs using support vector machine.26
197296012009Candidate gene polymorphisms for ischemic stroke.14
266587882016Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk.14
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
175344242007Human ClC-6 is a late endosomal glycoprotein that associates with detergent-resistant lipid domains.7

Citation

Dessen P

CLCN6 (chloride voltage-gated channel 6)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40097/clcn6