CLCN6

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) Band 1p36.22 Start 11,806,096bp End 11,848,079bp
Gene location (Mouse) Chr. Chromosome 4 (mouse) Band 4 E1|4 78.67 cM Start 148,088,716bp End 148,123,278bp
RNA expressionpattern Bgee Human Mouse(ortholog) Top expressed in right testis right auricle 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 PubMedsearch
Wikidata
View/Edit Human View/Edit Mouse

Chloride transport protein 6is aproteinthat in humans is encoded by theCLCN6gene.

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 significantsequence 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.

See also

• Chloride channel

Further reading

• Nakajima D, Okazaki N, Yamakawa H, et al. (2003)."Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones".DNA Res.9(3): 99–106.doi:10.1093/dnares/9.3.99.PMID12168954.
• Nomura N, Nagase T, Miyajima N, et al. (1995)."Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1".DNA Res.1(5): 223–9.doi:10.1093/dnares/1.5.223.PMID7584044.
• Eggermont J, Buyse G, Voets T, et al. (1997)."Alternative splicing of ClC-6 (a member of the CIC chloride-channel family) transcripts generates three truncated isoforms one of which, ClC-6c, is kidney-specific".Biochem. J.325(Pt 1): 269–76.doi:10.1042/bj3250269.PMC1218554.PMID9224655.
• Eggermont J (1998). "The exon-intron architecture of human chloride channel genes is not conserved".Biochim. Biophys. Acta.1397(2): 156–60.doi:10.1016/s0167-4781(98)00014-1.PMID9565675.
• Lamb FS, Clayton GH, Liu BX, et al. (1999). "Expression of CLCN voltage-gated chloride channel genes in human blood vessels".J. Mol. Cell. Cardiol.31(3): 657–66.doi:10.1006/jmcc.1998.0901.PMID10198195.
• Kornak U, Bösl MR, Kubisch C (1999). "Complete genomic structure of the CLCN6 and CLCN7 putative chloride channel genes(1)".Biochim. Biophys. Acta.1447(1): 100–6.doi:10.1016/s0167-4781(99)00128-1.PMID10500249.
• Lamb FS, Graeff RW, Clayton GH, et al. (2001). "Ontogeny of CLCN3 chloride channel gene expression in human pulmonary epithelium".Am. J. Respir. Cell Mol. Biol.24(4): 376–81.doi:10.1165/ajrcmb.24.4.4114.PMID11306429.
• Tran P, Leclerc D, Chan M, et al. (2003). "Multiple transcription start sites and alternative splicing in the methylenetetrahydrofolate reductase gene result in two enzyme isoforms".Mamm. Genome.13(9): 483–92.doi:10.1007/s00335-002-2167-6.PMID12370778.S2CID19722541.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003)."Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences".Proc. Natl. Acad. Sci. U.S.A.99(26): 16899–903.Bibcode:2002PNAS...9916899M.doi:10.1073/pnas.242603899.PMC139241.PMID12477932.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004)."The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)".Genome Res.14(10B): 2121–7.doi:10.1101/gr.2596504.PMC528928.PMID15489334.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006)."Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes".Genome Res.16(1): 55–65.doi:10.1101/gr.4039406.PMC1356129.PMID16344560.
• Gregory SG, Barlow KF, McLay KE, et al. (2006)."The DNA sequence and biological annotation of human chromosome 1".Nature.441(7091): 315–21.Bibcode:2006Natur.441..315G.doi:10.1038/nature04727.PMID16710414.

External links

• CLCN6+protein,+humanat the U.S. National Library of MedicineMedical Subject Headings(MeSH)
• HumanCLCN6genome location andCLCN6gene details page in theUCSC Genome Browser.

This article incorporates text from theUnited States National Library of Medicine,which is in thepublic domain.