CLCN6 cDNA ORF clone, Homo sapiens(human)
| Gene Symbol | CLCN6 |
| Entrez Gene ID | 1185 |
| Full Name | chloride voltage-gated channel 6 |
| Synonyms | CLC-6 |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | 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]. |
| Disorder MIM: |
mRNA and Protein(s)
| mRNA | Protein | Name |
|---|---|---|
| NM_001256959.1 | NP_001243888.1 | chloride transport protein 6 isoform 2 |
| NM_001286.4 | NP_001277.1 | chloride transport protein 6 isoform 1 |
| NM_001286.3 | NP_001277.1 | chloride transport protein 6 isoform 1 |
| Homo sapiens (human) | CLCN6 | NP_001277.1 |
| Pan troglodytes (chimpanzee) | CLCN6 | XP_001140805.1 |
| Mus musculus (house mouse) | Clcn6 | NP_036059.1 |
| Danio rerio (zebrafish) | clcn6 | XP_696527.3 |
| Rattus norvegicus (Norway rat) | Clcn6 | NP_001099949.1 |
| CLCN6 | XP_001104721.1 | |
| Bos taurus (cattle) | CLCN6 | NP_001192799.1 |
| Gallus gallus (chicken) | CLCN6 | XP_417644.2 |
| Xenopus tropicalis (tropical clawed frog) | clcn6 | XP_002937575.2 |
| Canis lupus familiaris (dog) | CLCN6 | XP_005618051.1 |
| Arabidopsis thaliana (thale cress) | CLC-D | NP_197996.1 |
Related articles in PubMed
Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk.
Yu B, Pulit SL, Hwang SJ, Brody JA, Amin N, Auer PL, Bis JC, Boerwinkle E, Burke GL, Chakravarti A, Correa A, Dreisbach AW, Franco OH, Ehret GB, Franceschini N, Hofman A, Lin DY, Metcalf GA, Musani SK, Muzny D, Palmas W, Raffel L, Reiner A, Rice K, Rotter JI, Veeraraghavan N, Fox E, Guo X, North KE, Gibbs RA, van Duijn CM, Psaty BM, Levy D, Newton-Cheh C, Morrison AC,
Circulation. Cardiovascular genetics9(1)64-70(2016 Feb)
Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures.
Yamamoto T, Shimojima K, Sangu N, Komoike Y, Ishii A, Abe S, Yamashita S, Imai K, Kubota T, Fukasawa T, Okanishi T, Enoki H, Tanabe T, Saito A, Furukawa T, Shimizu T, Milligan CJ, Petrou S, Heron SE, Dibbens LM, Hirose S, Okumura A
PloS one10(3)e0118946(2015)
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.
Del Greco M F, Pattaro C, Luchner A, Pichler I, Winkler T, Hicks AA, Fuchsberger C, Franke A, Melville SA, Peters A, Wichmann HE, Schreiber S, Heid IM, Krawczak M, Minelli C, Wiedermann CJ, Pramstaller PP
Human molecular genetics20(8)1660-71(2011 Apr)
The late endosomal ClC-6 mediates proton/chloride countertransport in heterologous plasma membrane expression.
Neagoe I, Stauber T, Fidzinski P, Bergsdorf EY, Jentsch TJ
The Journal of biological chemistry285(28)21689-97(2010 Jul)
Ontogeny of CLCN3 chloride channel gene expression in human pulmonary epithelium.
Lamb FS, Graeff RW, Clayton GH, Smith RL, Schutte BC, McCray PB Jr
American journal of respiratory cell and molecular biology24(4)376-81(2001 Apr)
GeneRIFs: Gene References Into Functions What's a GeneRIF?
These findings implicate the effect of rare coding variants in CLCN6 in Blood Pressure variation and offer new insights into Blood Pressure regulation.
Title: Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk.
A non-synonymous single nucleotide variation (SNV) was identified in the voltage-sensitive chloride channel 6 gene.
Title: Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic architecture of ambulatory blood pressure in the general population: insights from cardiovascular gene-centric array.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
late endosomal ClC-6 mediates proton/chloride countertransport in heterologous plasma membrane expression
Title: The late endosomal ClC-6 mediates proton/chloride countertransport in heterologous plasma membrane expression.
The following CLCN6 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the CLCN6 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.
| CloneID | OHu23036 |
|
| Clone ID Related Accession (Same CDS sequence) | NM_001286.4 , NM_001286.3 | |
| Accession Version | NM_001286.4 Latest version! | Documents for ORF clone product in default vector |
| Sequence Information | ORF Nucleotide Sequence (Length: 2610bp) Protein sequence SNP |
|
| Vector | pcDNA3.1+/C-(K)DYK or customized vector |  User Manual |
| Clone information | Clone Map | MSDS |
| Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
| ORF Insert Method | CloneEZ™ Seamless cloning technology | |
| Insert Structure | linear | |
| Update Date | 2019-08-05 | |
| Organism | Homo sapiens(human) | |
| Product | chloride transport protein 6 isoform 1 | |
| Comment | Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA229615.1, D28475.2, AL021155.1 and R20538.1. On Nov 23, 2018 this sequence version replaced NM_001286.3. Transcript Variant: This variant (1) is the longest transcript and encodes the longer isoform (1). This isoform is also known as CLC-6a. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803612.67387.1, SRR1803613.95142.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## COMPLETENESS: full length. | |
1 | ATGGCGGGGT GCAGGGGGTC TCTGTGCTGC TGCTGCAGGT GGTGCTGCTG CTGCGGTGAG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| RefSeq | NP_001277.1 |
| CDS | 73..2682 |
| Translation |
Target ORF information:
Target ORF information:
|
 NM_001286.4 |
ORF Insert Sequence:
1 | ATGGCGGGGT GCAGGGGGTC TCTGTGCTGC TGCTGCAGGT GGTGCTGCTG CTGCGGTGAG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| CloneID | OHu23036 |
|
| Clone ID Related Accession (Same CDS sequence) | NM_001286.4 , NM_001286.3 | |
| Accession Version | NM_001286.3 | Documents for ORF clone product in default vector |
| Sequence Information | ORF Nucleotide Sequence (Length: 2610bp) Protein sequence SNP |
|
| Vector | pcDNA3.1+/C-(K)DYK or customized vector | User Manual |
| Clone information | Clone Map | MSDS |
| Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
| ORF Insert Method | CloneEZ™ Seamless cloning technology | |
| Insert Structure | linear | |
| Update Date | 2017-10-01 | |
| Organism | Homo sapiens(human) | |
| Product | chloride transport protein 6 isoform 1 | |
| Comment | Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA229615.1, D28475.2, AL021155.1 and R20538.1. This sequence is a reference standard in the RefSeqGene project. On Mar 9, 2012 this sequence version replaced NM_001286.2. Transcript Variant: This variant (1) is the longest transcript and encodes the longer isoform (1). This isoform is also known as CLC-6a. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803614.11076.1, SRR1803611.28111.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. | |
1 | ATGGCGGGGT GCAGGGGGTC TCTGTGCTGC TGCTGCAGGT GGTGCTGCTG CTGCGGTGAG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| RefSeq | NP_001277.1 |
| CDS | 168..2777 |
| Translation |
Target ORF information:
Target ORF information:
|
NM_001286.3 |
ORF Insert Sequence:
1 | ATGGCGGGGT GCAGGGGGTC TCTGTGCTGC TGCTGCAGGT GGTGCTGCTG CTGCGGTGAG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| CloneID | OHu11598 | |
| Clone ID Related Accession (Same CDS sequence) | NM_001256959.1 | |
| Accession Version | NM_001256959.1 Latest version! | Documents for ORF clone product in default vector |
| Sequence Information | ORF Nucleotide Sequence (Length: 2544bp) Protein sequence SNP |
|
| Vector | pcDNA3.1+/C-(K)DYK or customized vector | User Manual |
| Clone information | Clone Map | MSDS |
| Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
| ORF Insert Method | CloneEZ™ Seamless cloning technology | |
| Insert Structure | linear | |
| Update Date | 2019-08-05 | |
| Organism | Homo sapiens(human) | |
| Product | chloride transport protein 6 isoform 2 | |
| Comment | Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA229615.1, AK294764.1, AL021155.1 and R20538.1. Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK294764.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01820687 [ECO:0000348] ##Evidence-Data-END## | |
1 | ATGGCGGGGT GCAGGGGGTC TCTGTGCTGC TGCTGCAGGT GGTGCTGCTG CTGCGGTGAG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| RefSeq | NP_001243888.1 |
| CDS | 168..2711 |
| Translation |
Target ORF information:
Target ORF information:
|
NM_001256959.1 |
ORF Insert Sequence:
1 | ATGGCGGGGT GCAGGGGGTC TCTGTGCTGC TGCTGCAGGT GGTGCTGCTG CTGCGGTGAG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
 |
Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk. |
|
Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures. |
|
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. |
|
The late endosomal ClC-6 mediates proton/chloride countertransport in heterologous plasma membrane expression. |
|
Ontogeny of CLCN3 chloride channel gene expression in human pulmonary epithelium. |