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CLIC2

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

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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