Identity
HGNC
LOCATION
3q27.1
LOCUSID
ALIAS
CIC-2,CLC2,ECA2,ECA3,EGI11,EGI3,EGMA,EJM6,EJM8,HALD2,LKPAT,clC-2
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: 1181
MIM: 600570
HGNC: 2020
Ensembl: ENSG00000114859
Variants:
dbSNP: 1181
ClinVar: 1181
TCGA: ENSG00000114859
COSMIC: CLCN2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36964785 | 2023 | Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function. | 3 |
| 36964785 | 2023 | Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function. | 3 |
| 33565032 | 2021 | Functional Analysis and Clinical Significance of Chloride Channel 2 Expression in Esophageal Squamous Cell Carcinoma. | 4 |
| 34070744 | 2021 | Regulation of ClC-2 Chloride Channel Proteostasis by Molecular Chaperones: Correction of Leukodystrophy-Associated Defect. | 0 |
| 34148308 | 2021 | Can Unlikely Neanderthal Chloride Channel CLC-2 Gene Variants Provide Insights in Modern Human Infertility? | 0 |
| 33565032 | 2021 | Functional Analysis and Clinical Significance of Chloride Channel 2 Expression in Esophageal Squamous Cell Carcinoma. | 4 |
| 34070744 | 2021 | Regulation of ClC-2 Chloride Channel Proteostasis by Molecular Chaperones: Correction of Leukodystrophy-Associated Defect. | 0 |
| 34148308 | 2021 | Can Unlikely Neanderthal Chloride Channel CLC-2 Gene Variants Provide Insights in Modern Human Infertility? | 0 |
| 31996765 | 2020 | A Novel Loss-of-Function Variant in the Chloride Ion Channel Gene Clcn2 Associates with Atrial Fibrillation. | 7 |
| 32466489 | 2020 | CUL4-DDB1-CRBN E3 Ubiquitin Ligase Regulates Proteostasis of ClC-2 Chloride Channels: Implication for Aldosteronism and Leukodystrophy. | 6 |
| 31996765 | 2020 | A Novel Loss-of-Function Variant in the Chloride Ion Channel Gene Clcn2 Associates with Atrial Fibrillation. | 7 |
| 32466489 | 2020 | CUL4-DDB1-CRBN E3 Ubiquitin Ligase Regulates Proteostasis of ClC-2 Chloride Channels: Implication for Aldosteronism and Leukodystrophy. | 6 |
| 31054517 | 2019 | De novo SCN1A, SCN8A, and CLCN2 mutations in childhood absence epilepsy. | 4 |
| 31054517 | 2019 | De novo SCN1A, SCN8A, and CLCN2 mutations in childhood absence epilepsy. | 4 |
| 29403011 | 2018 | CLCN2 chloride channel mutations in familial hyperaldosteronism type II. | 89 |
Citation
Dessen P
CLCN2 (chloride voltage-gated channel 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-06-01
Online version: http://atlasgeneticsoncology.org/gene/53960/clcn2-(chloride-voltage-gated-channel-2)
