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 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]

Description

Chloride intracellular channel 2

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Plasma membrane, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

X (155276211 - 155334657)

Ensembl ID

ENSG00000155962  (ver. 103.38)

Orthologs

-

UniProt

O15247

neXtProt

NX_O15247

Human splice variants

Protein structure