CLCN2

CLCN2
Identifiers
Aliases	CLCN2, CIC-2, CLC2, ECA2, ECA3, EGI11, EGI3, EGMA, EJM6, EJM8, LKPAT, clC-2, chloride voltage-gated channel 2, HALD2
External IDs	OMIM: 600570; MGI: 105061; HomoloGene: 3213; GeneCards: CLCN2; OMA:CLCN2 - orthologs
Gene location (Human)
Chr.	Chromosome 3 (human)
End	184,361,650 bp
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)
End	20,536,496 bp
RNA expression pattern
	Top expressed in
	mucosa of transverse colon; ; tibial nerve; ; sural nerve; ; right testis; ; left testis; ; right hemisphere of cerebellum; ; C1 segment; ; rectum; ; gallbladder; ; right ovary;
	Top expressed in
	intestinal villus; ; visual cortex; ; duodenum; ; primary visual cortex; ; superior frontal gyrus; ; jejunum; ; large intestine; ; colon; ; renal capsule; ; spermatocyte;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	voltage-gated ion channel activity; chloride channel activity; voltage-gated chloride channel activity; protein binding;
Cellular component	integral component of membrane; plasma membrane; membrane; chloride channel complex; integral component of plasma membrane;
Biological process	cell differentiation involved in salivary gland development; ion transmembrane transport; chloride transport; regulation of ion transmembrane transport; ion transport; retina development in camera-type eye; transmembrane transport; chloride transmembrane transport; regulation of aldosterone biosynthetic process;
	Sources:Amigo / QuickGO
Orthologs
	1181
	12724
	ENSG00000114859
	ENSMUSG00000022843
	P51788
	Q9R0A1
	NM_001171087; NM_001171088; NM_001171089; NM_004366
	NM_009900
	NP_001164558; NP_001164559; NP_001164560; NP_004357
	NP_034030
	Wikidata
View/Edit Human	View/Edit Mouse

Chloride channel protein 2 is a protein that in humans is encoded by the CLCN2 gene. Mutations of this gene have been found to cause leukoencephalopathy and Idiopathic generalised epilepsy (OMIM: 600699), although the latter claim has been disputed.

A gain of function mutation in the CLCN2 gene was found to cause primary aldosteronism, a form of arterial hypertension due to excessive production of aldosterone by the neuroendocrine cells of the zona glomerulosa of the adrenal gland. The mutation was found to cause a chloride leak in these cells and increased the expression of aldosterone synthase.

CLCN2 contains a transmembrane region that is involved in chloride ion transport as well two intracellular copies of the CBS domain.