CLIC2 gene

chloride intracellular channel 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Aug 2013]

From UniProt:

Can insert into membranes and form chloride ion channels. Channel activity depends on the pH. Membrane insertion seems to be redox-regulated and may occur only under oxydizing conditions. Modulates the activity of RYR2 and inhibits calcium influx.

From NCBI Gene:

  • Mental retardation, X-linked, syndromic 32

From UniProt:

Mental retardation, X-linked, syndromic, 32 (MRXS32): A mental retardation syndrome characterized by profound intellectual deficit, delayed psychomotor development beginning in infancy and little or no speech development. Additional features include seizures, large joint contractures, and abnormal positioning of the thumbs. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. [MIM:300886]

Cytogenetic Location: Xq28, which is the long (q) arm of the X chromosome at position 28

Molecular Location: base pairs 155,276,207 to 155,334,681 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xq28, which is the long (q) arm of the X chromosome at position 28
  • CLIC2b
  • MRXS32
  • XAP121