CLCN6 (chloride voltage-gated channel 6)

2003-05-01  

Identity

HGNC
CLCN6
LOCATION
1p36.22
LOCUSID
1185
ALIAS
CLC-6,CONRIBA
FUSION GENES
Show Gene Fusions

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
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
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
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
urinary bladder
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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447216SchizophreniaDiseaseClinicalAnnotationassociatedPD17976958
PA452233antipsychoticsChemicalClinicalAnnotationassociatedPD17976958

References

Pubmed IDYearTitleCitations
378317622023Molecular basis of ClC-6 function and its impairment in human disease.1
378317622023Molecular basis of ClC-6 function and its impairment in human disease.1
337375862021Exploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea cost of Apulia.6
337375862021Exploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea cost of Apulia.6
332173092020A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl(-)/H(+)-Exchanger, Causes Early-Onset Neurodegeneration.21
332173092020A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl(-)/H(+)-Exchanger, Causes Early-Onset Neurodegeneration.21
266587882016Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk.22
266587882016Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk.22
257941162015Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures.6
257941162015Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures.6
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
204160772010Identification of type 2 diabetes-associated combination of SNPs using support vector machine.31
204667232010The late endosomal ClC-6 mediates proton/chloride countertransport in heterologous plasma membrane expression.53
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
210600062010Genetic architecture of ambulatory blood pressure in the general population: insights from cardiovascular gene-centric array.35

Citation

Dessen P

CLCN6 (chloride voltage-gated channel 6)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40097/deep-insight-explorer/gene-fusions/gene-fusions-explorer/