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Chloride intracellular channel 6

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] (from NCBI)
Top mentioned proteins: ACID, HAD, KCNE1, DSCR1, SET
Papers on CLIC6
Proteomic landscape of the human choroid-retinal pigment epithelial complex.
Mahajan et al., Iowa City, United States. In Jama Ophthalmol, 2014
Many proteins had the highest expression in the foveal or macular regions, including inflammation-related proteins HLA-A, HLA-B, and HLA-C antigens; intercellular adhesion molecule 1 (ICAM-1); S100; transcription factor ERG; antioxidant superoxide dismutase 1 (SOD1); chloride intracellular channel 6 ion (CLIC6); activators of the complement cascade C1q, C6, and C8; and complement factor H. Proteins with higher expression in the periphery included bestrophin 1 (BEST1), transcription factor RNA binding motif protein 39 (RBM39), inflammatory mediator macrophage migration inhibitory factor, antioxidant SOD3, ion channel voltage-dependent anion-selective channel protein 3 (VDAC3), and complement inhibitor CD55.
Combined linkage analysis and exome sequencing identifies novel genes for familial goiter.
Koizumi et al., Kyoto, Japan. In J Hum Genet, 2013
In the other two families, we identified two additional rare missense variants segregating with goiter, p.A551T in CLIC6 on 21q22.12 and p.V412A in WFS1 on 4p16.
CpG island methylation profiling in human salivary gland adenoid cystic carcinoma.
El-Naggar et al., Jackson, United States. In Cancer, 2011
Hypermethylation was identified near genes encoding predominantly transcription factors (EN1, FOXE1, GBX2, FOXL1, TBX4, MEIS1, LBX2, NR2F2, POU3F3, IRX3, TFAP2C, NKX2-4, PITX1, NKX2-5), and 13 genes with different functions (MT1H, EPHX3, AQPEP, BCL2L11, SLC35D3, S1PR5, PNLIPRP1, CLIC6, RASAL, XRN2, GSTM5, FNDC1, INSRR).
Detailed molecular and clinical characterization of three patients with 21q deletions.
Blennow et al., Stockholm, Sweden. In Clin Genet, 2010
In addition, a critical region of 0.56 Mb containing four genes, KCNE1, DSCR1, CLIC6 and RUNX1, is associated with severe congenital heart defects, and deletions of the most proximal 15-17 Mb of 21q is associated with mild or no cognitive impairment, but may lead to problems with balance and motor function.
Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q.
Plon et al., Houston, United States. In Blood, 2008
All 3 deletions included the RUNX1, CLIC6, DSCR, and KCNE1 genes.
Helicobacter pylori and antrum erosion-specific gene expression patterns: the discriminative role of CXCL13 and VCAM1 transcripts.
Tulassay et al., Budapest, Hungary. In Helicobacter, 2008
In erosive gastritis, increased proliferation (MET) and transport (UCP2, SCFD1, KPNA4) were found, while genes associated with adhesion (SIGLEC11), transcription regulation (ESRRG), and electron and ion transport (ACADM, CLIC6) were down-regulated.
The gastric H,K ATPase as a drug target: past, present, and future.
Munson et al., Los Angeles, United States. In J Clin Gastroenterol, 2007
As the active H,K ATPase requires efflux of KCl for activity we have, using the transcriptome derived from 99% pure parietal cells and immunocytochemistry, provided evidence that the KCl pathway is mediated by a KCQ1/KCNE2 complex for supplying K and CLIC6 for supplying the accompanying Cl.
A 4 Mb high resolution BAC contig on bovine chromosome 1q12 and comparative analysis with human chromosome 21q22.
Distl et al., Hannover, Germany. In Comp Funct Genomics, 2004
The contig covers the region between the genes KRTAP8P1 and CLIC6.
Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12.
Reymond et al., Genève, Switzerland. In Gene, 2003
Here we report the molecular cloning and initial characterisation of two splice forms of a novel member of this family, CLIC6, mapping to human chromosome 21.
CLIC6, a member of the intracellular chloride channel family, interacts with dopamine D(2)-like receptors.
Sokoloff et al., Paris, France. In Brain Res Mol Brain Res, 2003
We isolated three partial cDNAs encoding, respectively, for the MUPP1 multi-PDZ protein, for the N-terminal region of radixin, for GIPC and for a 160-amino acid open reading frame sharing high homology with the human CLIC6, also identified as parchorin in rabbit.
Segmental paralogy in the human genome: a large-scale triplication on 1p, 6p, and 21q.
Zannotti et al., Bologna, Italy. In Mamm Genome, 2002
We also identified a new member of CLIC (Chloride Intracellular Channel) family on 21q, namely CLIC6.
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