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.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.