CLIC2 Chromosome X
Chloride intracellular channel 2
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What This Gene Does
This gene encodes a chloride intracellular channel protein. Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. This protein plays a role in inhibiting the function of ryanodine receptor 2. A mutation in this gene is the cause of an X-linked form of cognitive disability. [provided by RefSeq, Jul 2017]
Gene Info
Gene Group
Chloride intracellular channels
Locus Type
gene with protein product
Location
Xq28
Ensembl
ENSG00000155962
Associated Conditions (1)
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1032630286 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS782061657 | Health Risk | Conflicting classifications of pathogenicity | X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome, X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome |