Rabbit anti-Human CLCN2 Polyclonal Antibody

Uniprot Id

P51788

Target Species

Human

Target Name

CLCN2

Target Full Name

Chloride channel protein 2

Target Function

Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. Involved in the regulation of aldosterone production. The opening of CLCN2 channels at hyperpolarized membrane potentials in the glomerulosa causes cell membrane depolarization, activation of voltage-gated Ca2+ channels and increased expression of aldosterone synthase, the rate-limiting enzyme for aldosterone biosynthesis.

Target Involvement

Epilepsy, idiopathic generalized 11 (EIG11); Juvenile absence epilepsy 2 (JAE2); Juvenile myoclonic epilepsy 8 (EJM8); Leukoencephalopathy with ataxia (LKPAT)

Target Subcellular Location

Cell membrane; Multi-pass membrane protein.

Target Protein Families

Chloride channel (TC 2.A.49) family, ClC-2/CLCN2 subfamily

Target Tissue Specificity

Ubiquitously expressed. Moderately expressed in aortic and coronary vascular smooth muscle cells and expressed at a low level in aortic endothelial cells. Expressed in the adrenal gland, predominantly in the zona glomerulosa.

Target Synonyms

Chloride Channel 2; Chloride channel protein 2; Chloride channel; voltage sensitive 2; CIC 2; CIC2; ClC-2; CLC2; Clcn2; CLCN2_HUMAN; ECA2; ECA3; EG13; EGI11; EGMA; EJM6; EJM8; PKA-activated chloride channel

Target Background

This gene encodes a voltage-gated chloride channel. The encoded protein is a transmembrane protein that maintains chloride ion homeostasis in various cells. Defects in this gene may be a cause of certain epilepsies. Four transcript variants encoding different isoforms have been found for this gene.