CLIC2: Chloride Intracellular Channel 2
A member of the chloride intracellular channel family implicated in X-linked intellectual disability and cardiac disorders.
Gene Information Card
| Symbol | CLIC2 |
|---|---|
| Full Name | Chloride Intracellular Channel 2 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 1193 ncbi.nlm.nih.gov/gene/1193 |
| Ensembl ID | ENSG00000101974 |
| UniProt ID | O15247 |
| OMIM ID | 300138 |
| HGNC ID | 2063 |
| Aliases | CLIC2b, XAP121 |
Description
CLIC2 encodes a member of the chloride intracellular channel (CLIC) family, which functions as ion channels and in cellular processes such as cell cycle regulation and apoptosis. The protein is predominantly localized in the nucleus and cytoplasm, and is highly expressed in skeletal muscle and heart. Mutations in CLIC2 are associated with X-linked intellectual disability and cardiac conduction abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked intellectual disability | Loss-of-function mutations impair chloride ion homeostasis, affecting neuronal excitability and development. | PMID: 23453667, ClinVar |
| Cardiac arrhythmia | Altered CLIC2 expression disrupts cardiac ion channel regulation, leading to conduction defects. | PMID: 23453667, OMIM #300138 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Brain | 3.1 | Low |
| Liver | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.4 | High expression in transfected cells |
| HeLa | 5.2 | Moderate expression |
| SH-SY5Y | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.236G>A (p.Arg79His) | Missense | Rare | Reduced channel activity; associated with intellectual disability |
| c.424C>T (p.Arg142Cys) | Missense | Rare | Impaired protein stability; linked to cardiac phenotype |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg79His) reduce chloride conductance and protein stability, leading to loss of channel function.
Gain of Function (GOF)
No gain-of-function mutations reported in CLIC2.
Dominant Negative (DN)
No dominant-negative effects documented for CLIC2.
View complete mutation data：
Gene Ontology (GO)
| • chloride channel activity (GO:0005254) | • chloride transport (GO:0006821) |
| • membrane (GO:0016020) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) |
Pathways
• REACT:14797 - Ion channel transport
• WP:WP4754 - Chloride intracellular channel pathway
Protein Summary
CLIC2 is a 247-amino acid protein that exists in both soluble and membrane-associated forms. It functions as a chloride ion channel and is involved in cell cycle regulation, apoptosis, and cardiac excitability. The protein contains a conserved glutathione S-transferase (GST) domain and undergoes redox-dependent conformational changes to integrate into membranes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLIC2 Knockout HEK293 Cell Line | EDJ-KQ4294 | Human | 1193 | Details Get a Quote |
| CLIC2 Knockout HeLa Cell Line | EDJ-KQ26781 | Human | 1193 | Details Get a Quote |
| CLIC2 Knockout A-549 Cell Line | EDJ-KQ61394 | Human | 1193 | Details Get a Quote |
| CLIC2 Knockout HCT 116 Cell Line | EDJ-KQ69889 | Human | 1193 | Details Get a Quote |
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