Identity
HGNC
LOCATION
1p36.22
LOCUSID
ALIAS
CLC-6,CONRIBA
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1185
MIM: 602726
HGNC: 2024
Ensembl: ENSG00000011021
Variants:
dbSNP: 1185
ClinVar: 1185
TCGA: ENSG00000011021
COSMIC: CLCN6
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000011021 | ENST00000312413 | P51797 |
| ENSG00000011021 | ENST00000346436 | P51797 |
| ENSG00000011021 | ENST00000376496 | P51797 |
| ENSG00000011021 | ENST00000400892 | A0A3B3IRY0 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA447216 | Schizophrenia | Disease | ClinicalAnnotation | associated | PD | 17976958 | |
| PA452233 | antipsychotics | Chemical | ClinicalAnnotation | associated | PD | 17976958 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37831762 | 2023 | Molecular basis of ClC-6 function and its impairment in human disease. | 1 |
| 37831762 | 2023 | Molecular basis of ClC-6 function and its impairment in human disease. | 1 |
| 33737586 | 2021 | Exploring 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 |
| 33737586 | 2021 | Exploring 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 |
| 33217309 | 2020 | A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl(-)/H(+)-Exchanger, Causes Early-Onset Neurodegeneration. | 21 |
| 33217309 | 2020 | A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl(-)/H(+)-Exchanger, Causes Early-Onset Neurodegeneration. | 21 |
| 26658788 | 2016 | Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk. | 22 |
| 26658788 | 2016 | Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk. | 22 |
| 25794116 | 2015 | Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures. | 6 |
| 25794116 | 2015 | Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures. | 6 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 20416077 | 2010 | Identification of type 2 diabetes-associated combination of SNPs using support vector machine. | 31 |
| 20466723 | 2010 | The late endosomal ClC-6 mediates proton/chloride countertransport in heterologous plasma membrane expression. | 53 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 21060006 | 2010 | Genetic 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/clcn6
