Description: Homo sapiens chloride channel, voltage-sensitive 6 (CLCN6), transcript variant 1, mRNA. RefSeq Summary (NM_001286): This gene encodes a member of the voltage-dependent chloride channel protein family. Members of this family can function as either chloride channels or antiporters. This protein is primarily localized to late endosomes and functions as a chloride/proton antiporter. Alternate splicing results in both coding and non-coding variants. Additional alternately spliced variants have been described but their full-length structure is unknown. [provided by RefSeq, Mar 2012]. Transcript (Including UTRs) Position: hg19 chr1:11,866,153-11,903,201 Size: 37,049 Total Exon Count: 23 Strand: + Coding Region Position: hg19 chr1:11,866,320-11,900,280 Size: 33,961 Coding Exon Count: 23
ID:CLCN6_HUMAN DESCRIPTION: RecName: Full=Chloride transport protein 6; AltName: Full=Chloride channel protein 6; Short=ClC-6; FUNCTION: Chloride transport protein, initially identified as voltage-gated chloride channel. The presence of the conserved gating glutamate residues suggests that is functions as antiporter. SUBCELLULAR LOCATION: Endosome membrane; Multi-pass membrane protein. Note=Detected in detergent-resistant lipid rafts. TISSUE SPECIFICITY: Testis, ovary, small intestine, brain and skeletal muscle. Low level expression in aortic and coronary vascular smooth muscle cells, and aortic endothelial cells. Isoform C is only detected in kidney. PTM: N-glycosylated on several asparagine residues. MISCELLANEOUS: The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The presence of conserved gating glutamate residues is typical for family members that function as antiporters (By similarity). SIMILARITY: Belongs to the chloride channel (TC 2.A.49) family. ClC-6/CLCN6 subfamily. SIMILARITY: Contains 2 CBS domains.
Genetic Association Studies of Complex Diseases and Disorders
Natriuretic Peptide, Brain Fabiola Del Greco M et al. Human molecular genetics 2011, Genome-wide association analysis and fine mapping of NT-proBNP level provide novel insight into the role of the MTHFR-CLCN6-NPPA-NPPB gene cluster., Human molecular genetics.
systolic blood pressure Newton-Cheh ,et al. 2009, Genome-wide association study identifies eight loci associated with blood pressure, Nature genetics 2009 .
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P51797
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.