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CLIC2
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For Research Use Only. Not For Clinical Use.
Background
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 may play a role in inhibiting the function of ryanodine receptor 2. A mutation in this gene is the cause of X-linked mental retardation-32.
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Transporters
Predicted location
Intracellular
Single cell type specificity
Cell type enhanced (Langerhans cells, Alveolar cells type 1, Kupffer cells, monocytes, Erythroid cells, Endothelial cells, Alveolar cells type 2, Adipocytes)
Immune cell specificity
Group enriched (myeloid DC, intermediate monocyte, non-classical monocyte)
Cell line specificity
Group enriched (HDLM-2, K-562, Karpas-707, RPMI-8226)
Interaction
Monomer. Interacts with TRAPPC2 and RYR2.
Molecular function
Chloride channel, Ion channel, Voltage-gated channel
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