Identity
HGNC
LOCATION
16p13.3
LOCUSID
ALIAS
CLC-7,CLC7,HOD,OPTA2,OPTB4,PPP1R63
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: 1186
MIM: 602727
HGNC: 2025
Ensembl: ENSG00000103249
Variants:
dbSNP: 1186
ClinVar: 1186
TCGA: ENSG00000103249
COSMIC: CLCN7
RNA/Proteins
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 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38838776 | 2024 | Gain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease. | 0 |
| 38838776 | 2024 | Gain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease. | 0 |
| 38136669 | 2023 | Impaired Autophagic Clearance with a Gain-of-Function Variant of the Lysosomal Cl(-)/H(+) Exchanger ClC-7. | 3 |
| 38136669 | 2023 | Impaired Autophagic Clearance with a Gain-of-Function Variant of the Lysosomal Cl(-)/H(+) Exchanger ClC-7. | 3 |
| 35159175 | 2022 | The Role of the Lysosomal Cl(-)/H(+) Antiporter ClC-7 in Osteopetrosis and Neurodegeneration. | 7 |
| 35159175 | 2022 | The Role of the Lysosomal Cl(-)/H(+) Antiporter ClC-7 in Osteopetrosis and Neurodegeneration. | 7 |
| 33125761 | 2021 | Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants. | 12 |
| 33359007 | 2021 | Transcriptomic and bioinformatic analysis of Clcn7-dependent Autosomal Dominant Osteopetrosis type 2. Preclinical and clinical implications. | 2 |
| 33905594 | 2021 | Efficient generation of osteoclasts from human induced pluripotent stem cells and functional investigations of lethal CLCN7-related osteopetrosis. | 17 |
| 34258831 | 2021 | CLCN7-related neuropathic infantile osteopetrosis in siblings. | 2 |
| 33125761 | 2021 | Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants. | 12 |
| 33359007 | 2021 | Transcriptomic and bioinformatic analysis of Clcn7-dependent Autosomal Dominant Osteopetrosis type 2. Preclinical and clinical implications. | 2 |
| 33905594 | 2021 | Efficient generation of osteoclasts from human induced pluripotent stem cells and functional investigations of lethal CLCN7-related osteopetrosis. | 17 |
| 34258831 | 2021 | CLCN7-related neuropathic infantile osteopetrosis in siblings. | 2 |
| 32749217 | 2020 | Cryo-EM structure of the lysosomal chloride-proton exchanger CLC-7 in complex with OSTM1. | 32 |
Citation
Dessen P
CLCN7 (chloride voltage-gated channel 7)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56206/clcn7-(chloride-voltage-gated-channel-7)
