CLCN5 Gene Summary [Human]
This gene encodes a member of the ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin uptake by the renal proximal tubule. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]
Details
| Type | Protein Coding |
| Official Symbol | CLCN5 |
| Official Name | chloride voltage-gated channel 5 [Source:HGNC Symbol;Acc:HGNC:2023] |
| Ensembl ID | ENSG00000171365 |
| Bio databases IDs | |
| Aliases | chloride voltage-gated channel 5, Dent disease |
| Synonyms | 5430408K11RIK, chloride channel, voltage-sensitive 5, chloride voltage-gated channel 5, Clc4-1, CLC5, CLCK2, Clcn4-1, D930009B12Rik, DENT1, DENTS, DXImx42e, hCIC-K2, LOC100504671, LOC158563, NPHL1, NPHL2, Sfc13, T25545, XLRH, XRN |
| 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 CLCN5 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
- CBS domain
- Voltage gated chloride channel
- chloride channel
- antiporter
- protein binding
- identical protein binding
- voltage-gated chloride channel
- proline tyrosine motif
- 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
- nephrosis
- Dent disease type 1
- hereditary disorder
- renal clear cell adenocarcinoma
- renal clear cell cancer
- Dent disease
- endometriosis
- low molecular weight proteinuria with hypercalciuria and nephrocalcinosis
- X-linked recessive nephrolithiasis with renal failure
- X-linked recessive hypophosphatemic rickets
role in cell
- expression in
- proliferation
- size
- pH
- receptor-mediated endocytosis by
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
- Cytoplasm
- intracellular space
- apical compartment
- cellular membrane
- endosomes
- vesicles
- Golgi Apparatus
- cytosol
- apical membrane
- plasma membrane projections
- endosomal membrane
- recycling endosomes
- cytoplasmic vesicles
- brush border
- lamellipodia
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CLCN5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- ion transmembrane transport
- endocytosis
- chloride transport
- renal system process
Cellular Component
Where in the cell the gene product is active
- early endosome
- apical part of cell
- synaptic vesicle
- membrane
- cytosol
- Golgi membrane
- endosome membrane
- Golgi apparatus
- plasma membrane
- lysosomal membrane
Molecular Function
What the gene product does at the molecular level
- ATP binding
- identical protein binding
- protein binding
- antiporter activity
- voltage-gated chloride channel activity