InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CLIC2

Summary

InnateDB Protein

IDBP-92454.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CLIC2

Protein Name

chloride intracellular channel 2

Synonyms

CLIC2b; MRXS32; XAP121;

Species

Homo sapiens

Ensembl Protein

ENSP00000358460

InnateDB Gene

IDBG-92452 (CLIC2)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000269PubMed:15147738, ECO:0000269PubMed:15916532, ECO:0000269PubMed:17945253}.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:15916532}. Membrane {ECO:0000305PubMed:15916532}; Single-pass membrane protein {ECO:0000305PubMed:15916532}. Note=Exists both as soluble cytoplasmic protein and as membrane protein with probably a single transmembrane domain.

Disease Associations

Mental retardation, X-linked, syndromic, 32 (MRXS32) [MIM:300886]: 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. {ECO:0000269PubMed:22814392}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in adult and fetal brain, heart, skeletal muscle, liver, lung, and spleen. Detected in adult stomach and testis. Expressed in fetal thymus and kidney. {ECO:0000269PubMed:15147738, ECO:0000269PubMed:22814392}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.

Experimentally validated
Total	5 [view]
Protein-Protein	5 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004602	glutathione peroxidase activity
GO:0005247	voltage-gated chloride channel activity
GO:0005254	chloride channel activity
GO:0005515	protein binding

Biological Process

GO:0006810	transport
GO:0006821	chloride transport
GO:0007165	signal transduction
GO:0010880	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
GO:0010881	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
GO:0044070	regulation of anion transport
GO:0051099	positive regulation of binding
GO:0055114	oxidation-reduction process
GO:0060315	negative regulation of ryanodine-sensitive calcium-release channel activity
GO:1902476	chloride transmembrane transport