CLIC5 Gene Summary [Human]
This gene encodes a member of the chloride intracellular channel (CLIC) family of chloride ion channels. The encoded protein associates with actin-based cytoskeletal structures and may play a role in multiple processes including hair cell stereocilia formation, myoblast proliferation and glomerular podocyte and endothelial cell maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Details
| Type | Protein Coding |
| Official Symbol | CLIC5 |
| Official Name | chloride intracellular channel 5 [Source:HGNC Symbol;Acc:HGNC:13517] |
| Ensembl ID | ENSG00000112782 |
| Bio databases IDs | |
| Aliases | chloride intracellular channel 5 |
| Synonyms | 5730531E12Rik, B330005L24, chloride intracellular channel 5, CLIC5A, DFNB102, DFNB103, Gm322, jbg, MST130, MSTP130, nmf318 |
| 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 CLIC5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Glutathione S-transferase, N-terminal domain
- C-terminal, alpha helical domain of the Glutathione S-transferase family
- chloride channel
- Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
- protein binding
- intracellular chloride channel protein
- 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
- non-insulin-dependent diabetes mellitus
- age-related macular degeneration
- autosomal recessive deafness type 103
- diabetic nephropathy
- non-small cell lung cancer
- open-angle glaucoma
- X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- idiopathic pulmonary fibrosis
- ischemic stroke
- lung cancer
regulates
- chloride
role in cell
- organization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- apical compartment
- actin cytoskeleton
- Plasma Membrane
- Golgi Apparatus
- stereocilia
- apical membrane
- mitochondrial inner membrane
- microvilli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CLIC5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sensory perception of sound
- female pregnancy
- visual perception
- chloride transport
Cellular Component
Where in the cell the gene product is active
- chloride channel complex
- centrosome
- extracellular vesicular exosome
- cell cortex
- mitochondrion
- actin cytoskeleton
- Golgi apparatus
- apical plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- chloride channel activity