Protein Details: Chloride channel protein 2

Protein ID

ICDB_Pro_0589

Protein Name

Chloride channel protein 2

Gene Name

CLCN2

Organism

Homo sapiens (Human)

Length

898 amino acids

AlphaFoldDB

AF-P51788-F1-model_v4.pdb

Function

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 .

Sequence

MAAAAAEEGMEPRALQYEQTLMYGRYTQDLGAFAKEEAARIRLGGPEPWKGPPSSRAAPELLEYGRSRCARCRVCSVRCHKFLVSRVGEDWIFLVLLGLLMALVSWVMDYAIAACLQAQQWMSRGLNTSILLQYLAWVTYPVVLITFSAGFTQILAPQAVGSGIPEMKTILRGVVLKEYLTLKTFIAKVIGLTCALGSGMPLGKEGPFVHIASMCAALLSKFLSLFGGIYENESRNTEMLAAACAVGVGCCFAAPIGGVLFSIEVTSTFFAVRNYWRGFFAATFSAFIFRVLAVWNRDEETITALFKTRFRLDFPFDLQELPAFAVIGIASGFGGALFVYLNRKIVQVMRKQKTINRFLMRKRLLFPALVTLLISTLTFPPGFGQFMAGQLSQKETLVTLFDNRTWVRQGLVEELEPPSTSQAWNPPRANVFLTLVIFILMKFWMSALATTIPVPCGAFMPVFVIGAAFGRLVGESMAAWFPDGIHTDSSTYRIVPGGYAVVGAAALAGAVTHTVSTAVIVFELTGQIAHILPVMIAVILANAVAQSLQPSLYDSIIRIKKLPYLPELGWGRHQQYRVRVEDIMVRDVPHVALSCTFRDLRLALHRTKGRMLALVESPESMILLGSIERSQVVALLGAQLSPARRRQHMQERRATQTSPLSDQEGPPTPEASVCFQVNTEDSAFPAARGETHKPLKPALKRGPSVTRNLGESPTGSAESAGIALRSLFCGSPPPEAASEKLESCEKRKLKRVRISLASDADLEGEMSPEEILEWEEQQLDEPVNFSDCKIDPAPFQLVERTSLHKTHTIFSLLGVDHAYVTSIGRLIGIVTLKELRKAIEGSVTAQGVKVRPPLASFRDSATSSSDTETTEVHALWGPHSRHGLPREGSPSDSDDKCQ

PDB Structures

Ligand Binding

1. DICL_CP

2. DICL_Pep

Binding Site

BINDING 162; /ligand="chloride" ; BINDING 459; /ligand="chloride" ; BINDING 553; /ligand="chloride"

Disease

Hyperaldosteronism;Familial;Type Ii and Epilepsy;Idiopathic Generalized 11

Location

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 (PubMed:29403011). Expressed in the adrenal gland; predominantly in the zona glomerulosa (PubMed:29403011). Expressed in the adrenal gland; predominantly in the zona glomerulosa (PubMed:29403011).

DOI ID

10.1093/hmg/4.3.407; 10.1038/ng1285; 10.1038/nature04728; 10.1101/gr.2596504; 10.1006/jmcc.1998.0901; 10.1113/jphysiol.2008.167353; 10.1038/ng1121; 10.1038/ng0909-1043; 10.1073/pnas.1210303109; 10.1021/pr300630k; 10.1038/s41588-018-0048-5; 10.1038/s41588-018-0053-8; 10.1159/000107528; 10.1016/j.brainresbull.2009.01.008; 10.1038/ng0909-954; 10.1002/humu.20876; 10.1016/s1474-4422(13)70053-x; 10.1007/s00439-023-02531-7

RefSeq

NP_001164558.1 [P51788-3]; NP_001164559.1 [P51788-4]; NP_001164560.1 [P51788-5]; NP_004357.3 [P51788-1]

Feature