CLCN2 Gene Summary [Human]
This gene encodes a voltage-gated chloride channel. The encoded protein is a transmembrane protein that maintains chloride ion homeostasis in various cells. Defects in this gene may be a cause of certain epilepsies. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]
Details
| Type | Protein Coding |
| Official Symbol | CLCN2 |
| Official Name | chloride voltage-gated channel 2 [Source:HGNC Symbol;Acc:HGNC:2020] |
| Ensembl ID | ENSG00000114859 |
| Bio databases IDs | |
| Aliases | chloride voltage-gated channel 2 |
| Synonyms | chloride channel, voltage-sensitive 2, chloride voltage-gated channel 2, CIC-2, CLC2, ECA2, ECA3, EGI11, EGI3, EGMA, EJM6, EJM8, FHA2, FHII, HALD2, LKPAT, LOC100912455, LOC108348101, nmf240 |
| 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 CLCN2 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
- volume-sensitive anion channel
- Voltage gated chloride channel
- chloride channel
- voltage-dependent ion-selective channel
- chloride channel regulator
- protein binding
- 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
- susceptibility to idiopathic generalized epilepsy type 11
- leukoencephalopathy with ataxia
- familial hyperaldosteronism type II
- azoospermia
- juvenile myoclonic epilepsy
- irritable bowel syndrome
- chronic idiopathic constipation
- childhood absence epilepsy
- hyperplasia
- leukodystrophy
regulates
- hormone
- renin
- chloride
- aldosterone
role in cell
- cell death
- apoptosis
- proliferation
- formation
- transmembrane potential
- differentiation
- morphology
- abnormal morphology
- function
- degeneration
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
- membrane fraction
- axon component
- perinuclear region
- cellular membrane
- actin cytoskeleton
- basolateral membrane
- dendritic spines
- myelin sheath
- perikaryon
- dendrites
- astrocyte projections
- lamellipodia
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CLCN2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- acinar cell differentiation
- phagocytosis, engulfment
- retina development in camera-type eye
- chloride transport
- lung development
- regulation of aldosterone biosynthetic process
- cell differentiation involved in salivary gland development
- positive regulation of oligodendrocyte differentiation
Cellular Component
Where in the cell the gene product is active
- chloride channel complex
- dendrite
- myelin sheath
- perikaryon
- basolateral plasma membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- voltage-gated chloride channel activity