CLCN2

Chloride channel protein 2 is a protein that in humans is encoded by the CLCN2 gene.^[5][6] Mutations of this gene have been found to cause leukoencephalopathy^[7] and Idiopathic generalised epilepsy (OMIM: 600699),^[8] although the latter claim has been disputed.^[9]

AliasesCLCN2, CIC-2, CLC2, ECA2, ECA3, EGI11, EGI3, EGMA, EJM6, EJM8, LKPAT, clC-2, chloride voltage-gated channel 2, HALD2

External IDsOMIM: 600570; MGI: 105061; HomoloGene: 3213; GeneCards: CLCN2; OMA:CLCN2 - orthologs

Chr.Chromosome 3 (human)^[1]

End184,361,650 bp^[1]

Quick facts Identifiers, Aliases ...

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)[1] Band 3q27.1 Start 184,346,185 bp[1] End 184,361,650 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band 16 A3- B1|16 12.5 cM Start 20,521,714 bp[2] End 20,536,496 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 1181 12724 Ensembl ENSG00000114859 ENSMUSG00000022843 UniProt P51788 Q9R0A1 RefSeq (mRNA) NM_001171087 NM_001171088 NM_001171089 NM_004366 NM_009900 RefSeq (protein) NP_001164558 NP_001164559 NP_001164560 NP_004357 NP_034030 Location (UCSC) Chr 3: 184.35 – 184.36 Mb Chr 16: 20.52 – 20.54 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Close

A gain of function mutation in the CLCN2 gene was found to cause primary aldosteronism,^[10] 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.^[11]

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