CLCN6 Gene Summary [Human]
This gene encodes a member of the voltage-dependent chloride channel protein family. Members of this family can function as either chloride channels or antiporters. This protein is primarily localized to late endosomes and functions as a chloride/proton antiporter. Alternate splicing results in both coding and non-coding variants. Additional alternately spliced variants have been described but their full-length structure is unknown. [provided by RefSeq, Mar 2012]
Details
| Type | Protein Coding |
| Official Symbol | CLCN6 |
| Official Name | chloride voltage-gated channel 6 [Source:HGNC Symbol;Acc:HGNC:2024] |
| Ensembl ID | ENSG00000011021 |
| Bio databases IDs | |
| Aliases | chloride voltage-gated channel 6 |
| Synonyms | AI850629, chloride channel, voltage-sensitive 6, chloride voltage-gated channel 6, CLC-6, CONRIBA, LOC680079 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CLCN6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Voltage_gated_ClC
- CBS_pair_SF
- Domain in cystathionine beta-synthase and other proteins
- Voltage gated chloride channel
- CBS domain
- antiporter
- voltage-gated chloride channel
- ion channel
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- obesity
- psoriasis
- preeclampsia
- cardiac hypertrophy
- childhood-onset neurodegeneration with hypotonia, respiratory insufficiency, and brain imaging abnormalities
- hypertension
- cardiovascular disorder
- essential hypertension
- neuronal ceroid lipofuscinosis
- major depression
regulated by
- cisplatin
- Influenza A virus (A/Bangkok/RX73(H3N2))
- HMGA1
regulates
- ion
- chloride
role in cell
- abnormal morphology
- enlargement
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- endosomal fractions
- lysosome fractions
- cellular membrane
- lysosome
- Golgi Apparatus
- endosomal membrane
- late endosomes
- endolysosomes
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CLCN6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- signal transduction
- ion transmembrane transport
- chloride transport
- cell volume homeostasis
- response to mechanical stimulus
Cellular Component
Where in the cell the gene product is active
- late endosome membrane
- intracellular membrane-bounded organelle
- membrane
- endosome membrane
- lysosomal membrane
Molecular Function
What the gene product does at the molecular level
- ATP binding
- antiporter activity
- chloride transmembrane transporter activity
- voltage-gated chloride channel activity