CLCN6

Chloride transport protein 6 is a protein that in humans is encoded by the CLCN6 gene.^[5][6]

AliasesCLCN6, CLC-6, chloride voltage-gated channel 6, CONRIBA

External IDsOMIM: 602726; MGI: 1347049; HomoloGene: 985; GeneCards: CLCN6; OMA:CLCN6 - orthologs

Chr.Chromosome 1 (human)^[1]

End11,848,079 bp^[1]

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CLCN6
Identifiers
Aliases	CLCN6, CLC-6, chloride voltage-gated channel 6, CONRIBA
External IDs	OMIM: 602726; MGI: 1347049; HomoloGene: 985; GeneCards: CLCN6; OMA:CLCN6 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p36.22 Start 11,806,096 bp[1] End 11,848,079 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4 E1|4 78.67 cM Start 148,088,716 bp[2] End 148,123,278 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right testis right auricle of heart left testis anterior pituitary right hemisphere of cerebellum sural nerve middle temporal gyrus prefrontal cortex cingulate gyrus anterior cingulate cortex Top expressed in substantia nigra central gray substance of midbrain retinal pigment epithelium supraoptic nucleus primary visual cortex medial vestibular nucleus superior frontal gyrus neural layer of retina nucleus of stria terminalis anterior horn of spinal cord More reference expression data BioGPS n/a
Gene ontology Molecular function nucleotide binding ion channel activity ATP binding antiporter activity voltage-gated chloride channel activity protein binding chloride transmembrane transporter activity transmembrane transporter activity Cellular component integral component of membrane lysosomal membrane endosome endosome membrane membrane intracellular membrane-bounded organelle Biological process cell volume homeostasis response to mechanical stimulus chloride transport ion transmembrane transport ion transport signal transduction regulation of anion transmembrane transport transmembrane transport chloride transmembrane transport transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1185 26372 Ensembl ENSG00000011021 ENSMUSG00000029016 UniProt P51797 O35454 RefSeq (mRNA) NM_001256959 NM_001286 NM_021735 NM_021736 NM_021737 NM_011929 RefSeq (protein) NP_001243888 NP_001277 NP_036059 Location (UCSC) Chr 1: 11.81 – 11.85 Mb Chr 4: 148.09 – 148.12 Mb PubMed search [3] [4]
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The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. Chloride channel 6 and 7 belong to a subbranch of this family. Chloride channel 6 has four different alternatively spliced transcript variants. This gene is in close vicinity to two other kidney-specific chloride channel genes, CLCNKA and CLCNKB.^[6]