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CLCN6 chloride voltage-gated channel 6 [ Homo sapiens (human) ]

Gene ID: 1185, updated on 1-Jun-2020

Summary

Official Symbol
CLCN6provided by HGNC
Official Full Name
chloride voltage-gated channel 6provided by HGNC
Primary source
HGNC:HGNC:2024
See related
Ensembl:ENSG00000011021 MIM:602726
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CLC-6
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]
Expression
Ubiquitous expression in brain (RPKM 13.0), testis (RPKM 10.2) and 24 other tissues See more
Orthologs

Genomic context

See CLCN6 in Genome Data Viewer
Location:
1p36.22
Exon count:
23
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (11806096..11843144)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (11866153..11903201)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene atrophin-1-like Neighboring gene chromosome 1 open reading frame 167 Neighboring gene C1orf167 antisense RNA 1 Neighboring gene methylenetetrahydrofolate reductase Neighboring gene NPPA antisense RNA 1 Neighboring gene VISTA enhancer hs2123 Neighboring gene natriuretic peptide A Neighboring gene natriuretic peptide B

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
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.
NHGRI GWA Catalog
Genome-wide association study identifies eight loci associated with blood pressure.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0046

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
antiporter activity IEA
Inferred from Electronic Annotation
more info
 
chloride transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated chloride channel activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cell volume homeostasis NAS
Non-traceable Author Statement
more info
PubMed 
chloride transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
chloride transport NAS
Non-traceable Author Statement
more info
PubMed 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
response to mechanical stimulus IEA
Inferred from Electronic Annotation
more info
 
signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cell IEA
Inferred from Electronic Annotation
more info
 
endosome membrane TAS
Traceable Author Statement
more info
 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosomal membrane HDA PubMed 

General protein information

Preferred Names
chloride transport protein 6
Names
chloride channel, voltage-sensitive 6

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008766.1 RefSeqGene

    Range
    4947..41995
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001256959.2NP_001243888.2  chloride transport protein 6 isoform 2

    Status: REVIEWED

    Description
    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.
    Source sequence(s)
    AL021155, AL953897
    Consensus CDS
    CCDS57972.1
    Related
    ENSP00000308367.7, ENST00000312413.10
  2. NM_001286.5NP_001277.2  chloride transport protein 6 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the longest transcript and encodes the longer isoform (1). This isoform is also known as CLC-6a.
    Source sequence(s)
    AL021155, AL953897
    Consensus CDS
    CCDS138.1
    Related
    ENSP00000234488.9, ENST00000346436.11

RNA

  1. NR_046428.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL021155, BC143844, D28475, DA229615, R20538

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    11806096..11843144
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_021735.2: Suppressed sequence

    Description
    NM_021735.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  2. NM_021736.2: Suppressed sequence

    Description
    NM_021736.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  3. NM_021737.2: Suppressed sequence

    Description
    NM_021737.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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