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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CLIC5 Gene

protein-coding   GIFtS: 57
GCID: GC06M045848

Chloride Intracellular Channel 5

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Chloride Intracellular Channel 51 2
MST1302
MSTP1302
Chloride Intracellular Channel Protein 52

External Ids:    HGNC: 135171   Entrez Gene: 534052   Ensembl: ENSG000001127827   OMIM: 6072935   UniProtKB: Q9NZA13   

Export aliases for CLIC5 gene to outside databases

Previous GC identifers: GC06M045871 GC06M045916 GC06M045977 GC06M045589


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CLIC5 Gene:
This gene encodes a member of the chloride intracellular channel (CLIC) family of chloride ion channels. The
encoded protein associates with actin-based cytoskeletal structures and may play a role in multiple processes
including hair cell stereocilia formation, myoblast proliferation and glomerular podocyte and endothelial cell
maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this
gene. (provided by RefSeq, Dec 2011)

GeneCards Summary for CLIC5 Gene: 
CLIC5 (chloride intracellular channel 5) is a protein-coding gene. Diseases associated with CLIC5 include juvenile myoclonic epilepsy, and migraine, and among its related super-pathways are Activation of cAMP-Dependent PKA and MODY (Maturity-Onset Diabetes of Young). GO annotations related to this gene include protein binding and voltage-gated chloride channel activity. An important paralog of this gene is CLIC6.

UniProtKB/Swiss-Prot: CLIC5_HUMAN, Q9NZA1
Function: Can insert into membranes and form poorly selective ion channels that may also transport chloride ions.
May play a role in the regulation of transepithelial ion absorption and secretion. Required for normal formation
of stereocilia in the inner ear and normal development of the organ of Corti (By similarity). Is required for the
development and/or maintenance of the proper glomerular endothelial cell and podocyte architecture

Gene Wiki entry for CLIC5 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.2  NT_007592.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CLIC5 gene promoter:
         C/EBPbeta   AML1a   SREBP-1c   SREBP-1b   SREBP-1a   POU2F1   POU2F1b   FOXO1a   POU2F1c   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCLIC5 promoter sequence
   Search SABiosciences Chromatin IP Primers for CLIC5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CLIC5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p12.3   Ensembl cytogenetic band:  6p21.1   HGNC cytogenetic band: 6p12.3

CLIC5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CLIC5 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M045848:  view genomic region     (about GC identifiers)

Start:
45,866,188 bp from pter      End:
46,048,132 bp from pter
Size:
181,945 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CLIC5_HUMAN, Q9NZA1 (See protein sequence)
Recommended Name: Chloride intracellular channel protein 5  
Size: 410 amino acids; 46503 Da
Subunit: Component of a multimeric complex consisting of several cytoskeletal proteins, including actin, ezrin,
alpha-actinin, gelsolin, and IQGAP1. Interacts with AKAP9
Subcellular location: Isoform 1: Cytoplasm, cell cortex. Cytoplasm, cytoskeleton. Membrane; Single-pass membrane
protein. Note=Associates with the cortical actin cytoskeleton. Exists both as soluble cytoplasmic protein and as
membrane protein with probably a single transmembrane domain (By similarity)
Subcellular location: Isoform 2: Golgi apparatus. Cytoplasm, cytoskeleton, microtubule organizing center,
centrosome. Membrane; Single-pass membrane protein. Note=Colocalized with AKAP9 at the Golgi apparatus as well
as, to a lesser extent, the centrosome. Exists both as soluble cytoplasmic protein and as membrane protein with
probably a single transmembrane domain (By similarity). Colocalized with podocalyxin in renal glomeruli
Secondary accessions: B3KUF1 Q5T4Z0 Q8NBY3 Q96JT5 Q9BWZ0
Alternative splicing: 3 isoforms:  Q9NZA1-1   Q9NZA1-2   Q9NZA1-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CLIC5: NX_Q9NZA1

Explore proteomics data for CLIC5 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NZA1

  • CLIC5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CLIC5 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001107558.1  NP_001242952.1  NP_058625.2  

    ENSEMBL proteins: 
     ENSP00000344165   ENSP00000185206   ENSP00000439195  

    Human Recombinant Protein Products for CLIC5: 
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    Cloud-Clone Corp. Proteins for CLIC5 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus IEA--
    GO:0005815microtubule organizing center IEA--
    GO:0005938cell cortex IEA--
    GO:0015629actin cytoskeleton IDA10793131
    GO:0016020membrane ----

    CLIC5 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CLIC: Ion channels / Chloride channels : Intracellular

    4 InterPro protein domains:
     IPR002946 Int_Cl_channel
     IPR012336 Thioredoxin-like_fold
     IPR017933 Glutathione_S_Trfase/Cl_chnl_C
     IPR010987 Glutathione-S-Trfase_C-like

    Graphical View of Domain Structure for InterPro Entry Q9NZA1

    ProtoNet protein and cluster: Q9NZA1

    1 Blocks protein domain: IPB002946 Intracellular chloride (Cl-) channel signature

    UniProtKB/Swiss-Prot: CLIC5_HUMAN, Q9NZA1
    Domain: Members of this family may change from a globular, soluble state to a state where the N-terminal domain is
    inserted into the membrane and functions as chloride channel. A conformation change of the N-terminal domain is
    thought to expose hydrophobic surfaces that trigger membrane insertion (By similarity)
    Similarity: Belongs to the chloride channel CLIC family
    Similarity: Contains 1 GST C-terminal domain


    CLIC5 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CLIC5_HUMAN, Q9NZA1
    Function: Can insert into membranes and form poorly selective ion channels that may also transport chloride ions.
    May play a role in the regulation of transepithelial ion absorption and secretion. Required for normal formation
    of stereocilia in the inner ear and normal development of the organ of Corti (By similarity). Is required for the
    development and/or maintenance of the proper glomerular endothelial cell and podocyte architecture

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005247voltage-gated chloride channel activity IEA--
    GO:0005254chloride channel activity ----
    GO:0005515protein binding IPI10793131
         
    CLIC5 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CLIC5:
     G0/1 arrest  Increased G1 DNA content 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Clic5):
     behavior/neurological  hearing/vestibular/ear  nervous system  respiratory system 

    CLIC5 for phenotypes           About GeneDecksing

    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CLIC5 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    PKA Signaling0.56
    cAMP Pathway0.77
    2Hepatic ABC Transporters
    Hepatic ABC Transporters0.41
    3Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Cholera Infection0.40

    5 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CLIC5
        Cholera Infection
    Hepatic ABC Transporters
    PKA Signaling
    cAMP Pathway
    Activation of cAMP-Dependent PKA


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CLIC5

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5/8 Interacting proteins for CLIC5 (Q9NZA12, 3 ENSP000001852064) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACTA1P681333, ENSP000003556454I2D: score=2 STRING: ENSP00000355645
    EZRP153113, ENSP000003389344I2D: score=2 STRING: ENSP00000338934
    GSNP063963, ENSP000003629244I2D: score=1 STRING: ENSP00000362924
    IQGAP1P469403, ENSP000002681824I2D: score=1 STRING: ENSP00000268182
    ACTN1ENSP000003779414STRING: ENSP00000377941
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002021response to dietary excess ----
    GO:0002024diet induced thermogenesis IEA--
    GO:0006810transport NAS10793131
    GO:0006821chloride transport IDA10793131
    GO:0007565female pregnancy TAS10793131

    CLIC5 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for CLIC5

    1 HMDB Compound for CLIC5    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--

    Search CenterWatch for drugs/clinical trials and news about CLIC5

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CLIC5 gene (3 alternative transcripts): 
    NM_001114086.1  NM_001256023.1  NM_016929.4  

    Unigene Cluster for CLIC5:

    Chloride intracellular channel 5
    Hs.485489  [show with all ESTs]
    Unigene Representative Sequence: NM_001114086
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000487396 ENST00000339561(uc003oxu.3) ENST00000185206(uc003oxv.3)
    ENST00000484572 ENST00000486570 ENST00000476852 ENST00000464137 ENST00000544153(uc003oxw.3 uc003oxx.3)

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    hsa-miR-579 hsa-miR-4254 hsa-miR-188-5p hsa-miR-200a hsa-miR-138-2* hsa-miR-650 hsa-miR-570 hsa-miR-10b*
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    Additional mRNA sequence: 

    AF086005.1 AF176920.1 AF216941.1 AJ420547.1 AK025350.1 AK075144.1 AK075163.1 AK097048.1 
    AK222544.1 AK223130.1 AK314416.1 AL049313.1 AY032602.1 BC020923.1 BC035968.1 BC039380.1 
    DQ679794.1 NR_045672.1 NR_045673.1 NR_045674.1 

    8 DOTS entries:

    DT.412115  DT.97825233  DT.95074374  DT.91867981  DT.40111179  DT.121317408  DT.100748292  DT.91705033 

    24/140 AceView cDNA sequences (see all 140):

    BC035968 BM998579 BM914594 BX507210 BX398863 AA569128 BG413416 CA407711 
    BF036159 BP369816 BM727454 BQ185826 AI243245 Z40714 AA457718 AW611567 
    BQ184144 BM998735 BE677093 BU753008 NM_016929 AW469382 AI298427 BU740699 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for CLIC5 (see all 8)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c · 10d ^ 11 ^ 12a · 12b · 12c
    SP1:        -     -           -                       -     -     -     -     -                 -     -                     
    SP2:                          -                       -     -     -     -     -                 -     -                     
    SP3:                          -                       -     -     -     -     -                 -                           
    SP4:                                                                                            -                           
    SP5:                                                  -     -     -     -                                                   


    ECgene alternative splicing isoforms for CLIC5

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CLIC5 expression in normal human tissues (normalized intensities)      CLIC5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATCTGAACC
    CLIC5 Expression
    About this image


    CLIC5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/12 selected tissues (see all 12) fully expand
     
     Kidney (Urinary System)    fully expand to see all 7 entries
             Presumptive Podocytes Podocyte Layer
             Metanephros
             Human Renal Proximal Tubular Epithelial Cells (HRPTEpiC)   
             visceral organ/metanephros/calyx   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 3 entries
             visceral organ   
     
     Blood Brain Barrier (Nervous System)    fully expand to see all 2 entries
             Adult Endothelial Cells Blood Brain Barrier
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             Adult Endothelial Cells Blood Brain Barrier
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Thoracic Perivascular Adipose

    See CLIC5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CLIC5

    SOURCE GeneReport for Unigene cluster: Hs.485489

    UniProtKB/Swiss-Prot: CLIC5_HUMAN, Q9NZA1
    Tissue specificity: Isoform 1 is expressed in renal glomeruli endothelial cells and podocytes (at protein level)

        SABiosciences Expression via Pathway-Focused PCR Arrays including CLIC5: 
              Lung Cancer in human mouse rat
              Hypertension in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLIC5

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CLIC5 gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Clic51 , 5 chloride intracellular channel 51, 5 88.89(n)1
    94.65(a)1
      17 (20.53 cM)5
    2247961  NM_172621.21  NP_766209.11 
     441885725 
    chicken
    (Gallus gallus)
    Aves CLIC51 chloride intracellular channel 5 66.67(n)
    64.69(a)
      422054  XM_420060.2  XP_420060.2 
    lizard
    (Anolis carolinensis)
    Reptilia CLIC56
    Uncharacterized protein
    84(a)
    1 ↔ 1
    1(138670155-138715612)
    African clawed frog
    (Xenopus laevis)
    Amphibia clic5-prov2 chloride intracellular channel 5 77.94(n)    BC056036.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003296421 chloride intracellular channel protein 5-like 61.92(n)
    60.62(a)
      100329642  XM_002665755.1  XP_002665801.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Clic1 Chloride intracellular channel 51.24(n)
    38.31(a)
      32349  NM_132700.2  NP_572928.1 
    worm
    (Caenorhabditis elegans)
    Secernentea exl-16
    exc-46
    Chloride intracellular channel exc-4
    28(a)
    18(a)
    many ↔ many
    many ↔ many
    II(14412197-14413465)
    I(14512663-14518719)


    ENSEMBL Gene Tree for CLIC5 (if available)
    TreeFam Gene Tree for CLIC5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CLIC5 gene
    CLIC62  CLIC32  CLIC12  CLIC22  CLIC42  
    6 SIMAP similar genes for CLIC5 using alignment to 4 protein entries:     CLIC5_HUMAN (see all proteins):
    MST130    CLIC6    CLIC4    CLIC1    CLIC3    CLIC2

    CLIC5 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4190 SNPs in CLIC5 are shown (see all 4190)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs353622161,2
    C--45597675(+) TTGACT/-TTTTT 4 -- int11Minor allele frequency- -:0.50NA 2
    rs2016777321,2
    C--45762999(+) AAAAG-/AAAAAA 1 -- int10--------
    rs355174641,2
    C--45776555(+) AAAAA-/ATTGGT 1 -- ds50010--------
    rs64584761,2
    C,F,A,H--45776573(+) ATTGGT/CTTTAG 4 -- ds500120Minor allele frequency- C:0.12NS EA NA CSA WA 2553
    rs1160082081,2
    C,F--45776608(+) CTTTTC/TGTTTT 4 -- ds50011Minor allele frequency- T:0.04WA 118
    rs728701021,2
    C,F--45776618(+) TCTTCT/CTCCTC 4 -- ds50011Minor allele frequency- C:0.02NA 120
    rs1908680231,2
    --45776640(+) CTTTTA/GATTTT 4 -- ds50010--------
    rs1829511081,2
    --45776700(+) ACTCAC/GGCTGG 4 -- ds50010--------
    rs793331561,2
    C--45776737(+) TGCAGC/TCTCCA 4 -- ds50010--------
    rs1875556391,2
    --45776852(+) GACACC/TCCCAT 4 -- ds50010--------

    HapMap Linkage Disequilibrium report for CLIC5 (45866188 - 46048132 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/12 variations for CLIC5 (see all 12):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1008384CNV Deletion20482838
    esv2367588CNV Deletion18987734
    esv2585595CNV Deletion19546169
    esv1256091CNV Deletion17803354
    esv2732026CNV Deletion23290073
    esv4021CNV Deletion18987735
    esv273799CNV Insertion20981092
    nsv349891CNV Loss16902084
    nsv483136CNV Loss15286789
    nsv885867CNV Gain21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607293    OMIM disorders: --

    8 diseases for CLIC5:    About MalaCards
    juvenile myoclonic epilepsy    migraine    endotheliitis    cholera
    hypertension    lung cancer    hepatitis    breast cancer


    CLIC5 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CLIC5
    Human Genome Epidemiology (HuGE) Navigator: CLIC5 (2 documents)

    Export disorders for CLIC5 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CLIC5 gene, integrated from 9 sources (see all 25):
    (articles sorted by number of sources associating them with CLIC5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a novel member of the chloride intracellular channel gene family (CLIC5) that associates with the actin cytoskeleton of placental microvilli. (PubMed id 10793131)1, 2, 3, 9 Berryman M. and Bretscher A. (2000)
    2. AKAP350 at the Golgi apparatus. II. Association of AKAP350 with a novel chloride intracellular channel (CLIC) family member. (PubMed id 12163479)1, 2, 9 Shanks R.A.... Goldenring J.R. (2002)
    3. CLIC5A, a component of the ezrin-podocalyxin complex in glomeruli, is a determinant of podocyte integrity. (PubMed id 20335315)1, 2, 9 Wegner B....Ballermann B.J. (2010)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    5. A high-density association screen of 155 ion transport genes for involvement with common migraine. (PubMed id 18676988)1, 4 Nyholt D.R....Palotie A. (2008)
    6. Functional reconstitution of mammalian 'chloride intracellular channels' CLIC1, CLIC4 and CLIC5 reveals differential regulation by cytoskeletal actin. (PubMed id 18028448)1, 2 Singh H.... Ashley R.H. (2007)
    7. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (2005)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. CLIC-5A functions as a chloride channel in vitro and associates with the cortical actin cytoskeleton in vitro and in vivo. (PubMed id 15184393)1, 2 Berryman M.... Edwards J.C. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 53405 HGNC: 13517 AceView: CLIC5 Ensembl:ENSG00000112782 euGenes: HUgn53405
    ECgene: CLIC5 H-InvDB: CLIC5

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CLIC5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CLIC5 gene:
    Search GeneIP for patents involving CLIC5

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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     Regulatory tfbs in CLIC5 promoter
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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