CLIC2 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
CLIC2
Official Name
chloride intracellular channel 2 [Source:HGNC Symbol;Acc:HGNC:2063]
Ensembl ID
ENSG00000155962
Bio databases IDs NCBI: 1193 Ensembl: ENSG00000155962
Aliases chloride intracellular channel 2
Synonyms chloride intracellular channel 2, CLCNL2, CLIC2b, MRXS32, XAP121
Species
Human, Homo sapiens
OrthologiesRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CLIC2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Glutathione S-transferase, N-terminal domain
  • C-terminal, alpha helical domain of the Glutathione S-transferase family
  • chloride channel
  • Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
  • enzyme
  • protein binding
  • glutathione peroxidase
  • intracellular chloride channel protein

Pathways

Biological processes and signaling networks where the CLIC2 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • uterine serous papillary cancer
  • X-linked complex neurodevelopmental disorder
  • systemic juvenile idiopathic arthritis
  • androgenic alopecia
regulated by
regulates

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • Nucleus
  • Plasma Membrane
  • cytosol
  • nucleoplasm

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human CLIC2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
  • positive regulation of binding
  • signal transduction
  • chloride transport
  • regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
  • negative regulation of ryanodine-sensitive calcium-release channel activity

Cellular Component

Where in the cell the gene product is active
  • chloride channel complex
  • nucleus
  • cytoplasm
  • membrane
  • cytosol
  • plasma membrane
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • glutathione peroxidase activity
  • glutathione transferase activity
  • chloride channel activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.