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: 1180
MIM: 118425
HGNC: 2019
Ensembl: ENSG00000188037
Variants:
dbSNP: 1180
ClinVar: 1180
TCGA: ENSG00000188037
COSMIC: CLCN1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000188037 | ENST00000343257 | P35523 |
| ENSG00000188037 | ENST00000432192 | H7C0N6 |
| ENSG00000188037 | ENST00000455478 | H7C1F4 |
| ENSG00000188037 | ENST00000650516 | A0A3B3IU72 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Transmembrane transport of small molecules | REACTOME | R-HSA-382551 |
| Ion channel transport | REACTOME | R-HSA-983712 |
| Stimuli-sensing channels | REACTOME | R-HSA-2672351 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38644209 | 2024 | [A pedigree of myotonia congenita with a novel mutation p.F343C of the CLCN1 gene]. | 0 |
| 38720415 | 2024 | Clinical and genetic characteristics of myotonia congenita in Chinese population. | 0 |
| 38644209 | 2024 | [A pedigree of myotonia congenita with a novel mutation p.F343C of the CLCN1 gene]. | 0 |
| 38720415 | 2024 | Clinical and genetic characteristics of myotonia congenita in Chinese population. | 0 |
| 36720299 | 2023 | Coexistence of SCN4A and CLCN1 mutations in a family with atypical myotonic features: A clinical and functional study. | 1 |
| 36720299 | 2023 | Coexistence of SCN4A and CLCN1 mutations in a family with atypical myotonic features: A clinical and functional study. | 1 |
| 35866763 | 2022 | Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people. | 1 |
| 35866763 | 2022 | Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people. | 1 |
| 33464536 | 2021 | Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita. | 0 |
| 33507632 | 2021 | Functional analysis of the F337C mutation in the CLCN1 gene associated with dominant myotonia congenita reveals an alteration of the macroscopic conductance and voltage dependence. | 2 |
| 33670307 | 2021 | Functional and Structural Characterization of ClC-1 and Na(v)1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients. | 2 |
| 34545712 | 2021 | Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis. | 5 |
| 33464536 | 2021 | Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita. | 0 |
| 33507632 | 2021 | Functional analysis of the F337C mutation in the CLCN1 gene associated with dominant myotonia congenita reveals an alteration of the macroscopic conductance and voltage dependence. | 2 |
| 33670307 | 2021 | Functional and Structural Characterization of ClC-1 and Na(v)1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients. | 2 |
Citation
Dessen P
CLCN1 (chloride voltage-gated channel 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/61852/meetings/haematological-explorer/
