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    CLIC6 chloride intracellular channel 6 [ Homo sapiens ]

    Gene ID: 54102, updated on 11-May-2012
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    Summary

    Official Symbol
    CLIC6provided by HGNC
    Official Full Name
    chloride intracellular channel 6provided by HGNC
    Primary source
    HGNC:2065
    See related
    Ensembl:ENSG00000159212; Vega:OTTHUMG00000086237
    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
    CLIC1L
    Summary
    This gene encodes a member of the chloride intracellular channel family of proteins. The gene is part of a large triplicated region found on chromosomes 1, 6, and 21. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    21q22.12
    Sequence :
    Chromosome: 21; NC_000021.8 (36041688..36090519)
    See CLIC6 in Epigenomics, MapViewer

    Chromosome 21 - NC_000021.8Genomic Context describing neighboring genes Neighboring gene potassium voltage-gated channel, Isk-related family, member 1 Neighboring gene regulator of calcineurin 1 Neighboring gene uncharacterized LOC100506369 Neighboring gene long intergenic non-protein coding RNA 160 Neighboring gene uncharacterized LOC100506385

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. Wheeler HE, et al. PLoS Genet, 2009 Oct. PMID 19834535.
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334.
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039.
    4. Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12. Friedli M, et al. Gene, 2003 Nov 27. PMID 14597386.
    5. CLIC6, a member of the intracellular chloride channel family, interacts with dopamine D(2)-like receptors. Griffon N, et al. Brain Res Mol Brain Res, 2003 Sep 10. PMID 14499480.

    See all (10) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q96NY7 P14416 DRD2    HPRD  PubMed  
    Q96NY7 P35462 DRD3    HPRD  PubMed  
    BioGRID:119900 BioGRID:108147 DRD2    BioGRID  PubMed Two-hybrid 
    BioGRID:119900 BioGRID:108148 DRD3    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:119900 BioGRID:108149 DRD4    BioGRID  PubMed Two-hybrid 
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    General gene information

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    voltage-gated chloride channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    voltage-gated ion channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    chloride intracellular channel protein 6
    Names
    chloride intracellular channel protein 6
    parchorin
    chloride channel form A
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    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.

    mRNA and Protein(s)

    1. NM_053277.1 → NP_444507.1  chloride intracellular channel protein 6

      Status: REVIEWED

      Source sequence(s)
      AF448438
      Consensus CDS
      CCDS13638.1
      UniProtKB/Swiss-Prot
      Q96NY7
      Related
      ENSP00000290332, OTTHUMP00000108628, ENST00000349499, OTTHUMT00000194157
      Conserved Domains (4) summary
      cd03061
      Location:450 – 538
      Blast Score: 417
      GST_N_CLIC; GST_N family, Chloride Intracellular Channel (CLIC) subfamily; composed of CLIC1-5, p64, parchorin and similar proteins. They are auto-inserting, self-assembling intracellular anion channels involved in a wide variety of functions including regulated ...
      TIGR00862
      Location:453 – 686
      Blast Score: 1112
      O-ClC; intracellular chloride channel protein
      TIGR00927
      Location:112 – 356
      Blast Score: 110
      2A1904; K+-dependent Na+/Ca+ exchanger
      cd10301
      Location:545 – 684
      Blast Score: 751
      GST_C_CLIC6; C-terminal, alpha helical domain of Chloride Intracellular Channel 6

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000021.8 Reference GRCh37.p5 Primary Assembly

      Range
      36041688..36090519
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000153.1 Alternate HuRef

      Range
      21520561..21569502
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AP000330.3 (6924..55755) None
    genomic CH471079.2 EAX09775.1
      EAX09776.1
    mRNA AF308293.1 None
    mRNA AF426169.1 AAL24813.1
    mRNA AF448438.1 AAN76729.1
    mRNA AF448439.1 AAN76730.1
    mRNA AK092733.1 BAC03959.1
    mRNA AK289663.1 BAF82352.1
    mRNA BC040196.2 AAH40196.1
    other-genetic BC169220.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96NY7.3 GenPept UniProtKB/Swiss-Prot:Q96NY7
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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