InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CLCN2

Summary

InnateDB Protein

IDBP-68085.7

Last Modified

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

Gene Symbol

CLCN2

Protein Name

chloride channel 2

Synonyms

CIC-2; clC-2; CLC2; ECA2; ECA3; EGI11; EGI3; EGMA; EJM6; EJM8; LKPAT;

Species

Homo sapiens

Ensembl Protein

ENSP00000345056

InnateDB Gene

IDBG-68081 (CLCN2)

Protein Structure

UniProt Annotation

Function

Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. {ECO:0000269PubMed:19153159, ECO:0000269PubMed:19191339}.

Subcellular Localization

Membrane; Multi-pass membrane protein.

Disease Associations

Epilepsy, idiopathic generalized 11 (EIG11) [MIM:607628]: A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Juvenile absence epilepsy 2 (JAE2) [MIM:607628]: A subtype of idiopathic generalized epilepsy characterized by onset occurring around puberty, absence seizures, generalized tonic- clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Juvenile myoclonic epilepsy 8 (EJM8) [MIM:607628]: A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Leukoencephalopathy with ataxia (LKPAT) [MIM:615651]: An autosomal recessive neurologic disorder with a characteristic pattern of white matter abnormalities on brain MRI. Affected individuals have prominent signal abnormalities and decreased apparent diffusion coefficient values in the posterior limbs of the internal capsules, middle cerebral peduncles, pyramidal tracts in the pons, and middle cerebellar peduncles, suggesting myelin microvacuolation. Clinical features include ataxia and unstable gait. More variable abnormalities may include visual field defects, headaches, and learning disabilities. {ECO:0000269PubMed:23707145}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitously expressed. Moderately expressed in aortic and coronary vascular smooth muscle cells and expressed at a low level in aortic endothelial cells. {ECO:0000269PubMed:10198195}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.

Experimentally validated
Total	12 [view]
Protein-Protein	10 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005216	ion channel activity
GO:0005247	voltage-gated chloride channel activity
GO:0030554	adenyl nucleotide binding

Biological Process

GO:0006810	transport
GO:0006821	chloride transport
GO:0034220	ion transmembrane transport
GO:0034765	regulation of ion transmembrane transport
GO:0044070	regulation of anion transport
GO:0055085	transmembrane transport
GO:1902476	chloride transmembrane transport