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CLIC2 Gene

protein-coding   GIFtS: 57
GCID: GC0XM154505

Chloride Intracellular Channel 2

  See CLIC2-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Chloride Intracellular Channel 21 2
XAP1212 3 5
MRXS322 5
CLIC2b2
Chloride Intracellular Channel Protein 22

External Ids:    HGNC: 20631   Entrez Gene: 11932   Ensembl: ENSG000001559627   OMIM: 3001385   UniProtKB: O152473   

Export aliases for CLIC2 gene to outside databases

Previous GC identifers: GC0XP148554 GC0XP150871 GC0XM152023 GC0XM152928 GC0XM154070 GC0XM154158 GC0XM143049


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CLIC2 Gene:
This gene encodes a chloride intracellular channel protein. Chloride channels are a diverse group of proteins that
regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial
transport, maintenance of intracellular pH, and regulation of cell volume. This protein may play a role in
inhibiting the function of ryanodine receptor 2. A mutation in this gene is the cause of X-linked mental
retardation-32. (provided by RefSeq, Aug 2013)

GeneCards Summary for CLIC2 Gene:
CLIC2 (chloride intracellular channel 2) is a protein-coding gene. Diseases associated with CLIC2 include mental retardation, x-linked, syndromic 32. GO annotations related to this gene include chloride channel activity and glutathione peroxidase activity. An important paralog of this gene is CLIC6.

UniProtKB/Swiss-Prot: CLIC2_HUMAN, O15247
Function: Can insert into membranes and form chloride ion channels. Channel activity depends on the pH. Membrane
insertion seems to be redox-regulated and may occur only under oxydizing conditions. Modulates the activity of
RYR2 and inhibits calcium influx

Gene Wiki entry for CLIC2 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NC_018934.2  NT_011681.17  
Regulatory elements:
   Search for regulatory transcription factor binding sites for CLIC2
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CLIC2 promoter sequence
   Search Chromatin IP Primers for CLIC2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CLIC2


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

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

CLIC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CLIC2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM154505:  view genomic region     (about GC identifiers)

Start:
154,505,500 bp from pter      End:
154,563,986 bp from pter
Size:
58,487 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CLIC2_HUMAN, O15247 (See protein sequence)
Recommended Name: Chloride intracellular channel protein 2  
Size: 247 amino acids; 28356 Da
Subunit: Monomer. Interacts with TRAPPC2 and RYR2
Sequence caution: Sequence=CAA73228.1; Type=Frameshift; Positions=244;
3 PDB 3D structures from and Proteopedia for CLIC2:
2PER (3D)        2R4V (3D)        2R5G (3D)    
Secondary accessions: A8K9S0 O15174 Q5JT80 Q8TCE3

Explore the universe of human proteins at neXtProt for CLIC2: NX_O15247

Explore proteomics data for CLIC2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CLIC2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001280.3  
    ENSEMBL proteins: 
     ENSP00000358460   ENSP00000318558  
    Reactome Protein details: O15247

    CLIC2 Human Recombinant Protein Products:

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    Novus Biologicals CLIC2 Proteins
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    ProSpec Recombinant Protein for CLIC2
    Cloud-Clone Corp. Proteins for CLIC2

     
    Search eBioscience for Proteins for CLIC2 

     
    antibodies-online proteins for CLIC2 (12 products) 

     
    antibodies-online peptides for CLIC2

    CLIC2 Antibody Products:

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    antibodies-online antibodies for CLIC2 (28 products) 

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    Cloud-Clone Corp. ELISAs for CLIC2
    Cloud-Clone Corp. CLIAs for CLIC2
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    antibodies-online kits for CLIC2 (4 products) 


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

    4 InterPro protein domains:
     IPR002946 Int_Cl_channel
     IPR012336 Thioredoxin-like_fold
     IPR004045 Glutathione_S-Trfase_N
     IPR010987 Glutathione-S-Trfase_C-like

    Graphical View of Domain Structure for InterPro Entry O15247

    ProtoNet protein and cluster: O15247

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

    UniProtKB/Swiss-Prot: CLIC2_HUMAN, O15247
    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
    Similarity: Belongs to the chloride channel CLIC family
    Similarity: Contains 1 GST C-terminal domain


    Find genes that share domains with CLIC2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CLIC2_HUMAN, O15247
    Function: Can insert into membranes and form chloride ion channels. Channel activity depends on the pH. Membrane
    insertion seems to be redox-regulated and may occur only under oxydizing conditions. Modulates the activity of
    RYR2 and inhibits calcium influx

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004364NOT glutathione transferase activity IDA15147738
    GO:0004602glutathione peroxidase activity IDA15147738
    GO:0005247voltage-gated chloride channel activity IEA--
    GO:0005254chloride channel activity TAS9339381
    GO:0005515protein binding IPI12681486
         
    Find genes that share ontologies with CLIC2           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for CLIC2

    miRNA
    Products:
        
    miRTarBase miRNAs that target CLIC2:
    hsa-mir-26b-5p (MIRT029268), hsa-mir-335-5p (MIRT017468)

    Block miRNA regulation of human, mouse, rat CLIC2 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate CLIC2:
    hsa-miR-140-5p hsa-miR-144 hsa-miR-576-5p hsa-miR-4263 hsa-miR-16-1* hsa-miR-3138
    SwitchGear 3'UTR luciferase reporter plasmidCLIC2 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat CLIC2

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    Clone
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    GenScript: all cDNA clones in your preferred vector: CLIC2 (NM_001289)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CLIC2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CLIC2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLIC2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CLIC2_HUMAN, O15247: Cytoplasm. Membrane; Single-pass membrane protein (Probable). Note=Exists both as soluble
    cytoplasmic protein and as membrane protein with probably a single transmembrane domain
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    endoplasmic reticulum1
    extracellular1
    mitochondrion1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA--
    GO:0005634nucleus TAS16130169
    GO:0005737cytoplasm TAS16130169
    GO:0016020membrane ----
    GO:0034707chloride channel complex IEA--

    Find genes that share ontologies with CLIC2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for CLIC2 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
    2Ion channel transport
    Ion channel transport0.58
    Stimuli-sensing channels0.58
    3Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47
    4Hepatic ABC Transporters
    Hepatic ABC Transporters0.41
    5Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Cholera Infection0.40


    Find genes that share SuperPaths with CLIC2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CLIC2
        Cholera Infection
    Hepatic ABC Transporters
    PKA Signaling
    cAMP Pathway
    Activation of cAMP-Dependent PKA

    1 Reactome Pathway for CLIC2
        Stimuli-sensing channels


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CLIC2
    Interactions:

        Search GeneGlobe Interaction Network for CLIC2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    Selected Interacting proteins for CLIC2 (O152473 ENSP000003584604) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRAPPC2P1P0DI823I2D: score=2 
    TRAPPC2ENSP000003527084STRING: ENSP00000352708
    UMPSENSP000002326074STRING: ENSP00000232607
    HIBCHENSP000003527064STRING: ENSP00000352706
    PGDENSP000002707764STRING: ENSP00000270776
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS9339381
    GO:0006821chloride transport ----
    GO:0007165signal transduction TAS16130169
    GO:0010880regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IDA15147738
    GO:0010881regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion IC15147738

    Find genes that share ontologies with CLIC2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CLIC2

    1 HMDB Compound for CLIC2    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--

    4 Novoseek inferred chemical compound relationships for CLIC2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ryanodine 68.5 6 18522493 (2), 15916532 (1), 15147738 (1), 19356589 (1)
    chloride 65.2 12 9339381 (4), 15916532 (1), 19356589 (1), 18007051 (1)
    calcium 16.3 8 15916532 (4), 15147738 (2), 19356589 (1)
    lipid 6.42 1 15916532 (1)



    Find genes that share compounds with CLIC2           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CLIC2 gene: 
    NM_001289.5  

    Unigene Cluster for CLIC2:

    Chloride intracellular channel 2
    Hs.655445  [show with all ESTs]
    Unigene Representative Sequence: NM_001289
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369449(uc004fnf.3 uc010nvj.1) ENST00000465553 ENST00000321926
    ENST00000491205
    miRNA
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    6 qRT-PCR Assays for microRNAs that regulate CLIC2:
    hsa-miR-140-5p hsa-miR-144 hsa-miR-576-5p hsa-miR-4263 hsa-miR-16-1* hsa-miR-3138
    SwitchGear 3'UTR luciferase reporter plasmidCLIC2 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: CLIC2 (NM_001289)
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat CLIC2
      QuantiTect SYBR Green Assays in human, mouse, rat CLIC2
      QuantiFast Probe-based Assays in human, mouse, rat CLIC2

    Additional mRNA sequence: 

    AK292785.1 AY191592.1 BC005367.1 BC022305.1 Y12696.1 

    5 DOTS entries:

    DT.453880  DT.95270543  DT.121303719  DT.95270540  DT.95270541 

    Selected AceView cDNA sequences (see all 118):

    BQ717000 NM_001289 AI290707 BG944150 AI768628 AI633777 AI239716 AI288487 
    BQ013124 CD365335 BE326646 AA843327 AI457837 BU619905 BX119152 BM955578 
    AI302953 BQ894644 BU662750 R06352 AA652698 BQ004708 AI017399 BU658985 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CLIC2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTCAGAGATG
    CLIC2 Expression
    About this image


    CLIC2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Blood (Hematopoietic System)
             Erythroblasts Hematopoietic Bone Marrow
     
     Spleen (Hematopoietic System)
    CLIC2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CLIC2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.655445

    UniProtKB/Swiss-Prot: CLIC2_HUMAN, O15247
    Tissue specificity: Expressed in adult and fetal brain, heart, skeletal muscle, liver, lung, and spleen. Detected
    in adult stomach and testis. Expressed in fetal thymus and kidney

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLIC2

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CLIC2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    rat
    (Rattus norvegicus)
    Mammalia Clic21 chloride intracellular channel 2 88.84(n)
    92.65(a)
      294141  NM_001009651.1  NP_001009651.1 
    chicken
    (Gallus gallus)
    Aves CLIC21 chloride intracellular channel 2 73.7(n)
    78.06(a)
      422178  NM_001031114.1  NP_001026285.1 
    zebrafish
    (Danio rerio)
    Actinopterygii clic21 chloride intracellular channel 2 68.64(n)
    72.57(a)
      436834  NM_001002561.1  NP_001002561.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Clic6
    Chloride intracellular channel
    28(a)
    1 → many
    X(13707165-13716357)
    worm
    (Caenorhabditis elegans)
    Secernentea exl-16
    exc-46
    Protein EXC-4 (exc-4) mRNA, complete cds
    28(a)
    21(a)
    many ↔ many
    many ↔ many
    II(14412197-14413465) WBGene00001371
    I(14512663-14518719) WBGene00001365
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons DHAR31 DHAR3 47.38(n)
    32.49(a)
      831532  NM_121676.3  NP_568336.1 
    rice
    (Oryza sativa)
    Liliopsida Os06g02326001 Os06g0232600 45.86(n)
    30.39(a)
      4340581  NM_001063763.1  NP_001057228.1 


    ENSEMBL Gene Tree for CLIC2 (if available)
    TreeFam Gene Tree for CLIC2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CLIC2 gene
    CLIC62  CLIC32  CLIC12  CLIC52  CLIC42  
    6 SIMAP similar genes for CLIC2 using alignment to 3 protein entries:     CLIC2_HUMAN (see all proteins):
    CLIC6    CLIC4    CLIC5    CLIC3    MST130    CLIC1

    Find genes that share paralogs with CLIC2           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CLIC2 (see all 768)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0688984
    Mental retardation, X-linked, syndromic, 32 (MRXS32)4--see VAR_0688982 H Q mis40--------
    rs1914695981,2
    --154505050(+) TAACTA/GGGTCT 2 -- ds50010--------
    rs1394971631,2
    --154505276(+) TATATA/TCACAT 2 -- ds50010--------
    rs732476781,2
    --154505299(+) TTTAAA/CAATTT 2 -- ds50010--------
    rs1450376181,2
    --154505341(+) CAATCG/TTTTAT 2 -- ds50010--------
    rs1811598111,2
    --154505421(+) TGATAC/TGAAGT 2 -- ds50010--------
    rs1859566811,2
    --154505616(+) TAGGCA/GTAATT 2 -- ut310--------
    rs562239051,2
    C,F--154505634(+) CCACCG/ACTATA 2 -- ut311Minor allele frequency- A:0.00WA 2
    rs5251611,2
    C,F,H--154505745(+) tgaatA/Gccaaa 2 -- ut3118Minor allele frequency- G:0.35MN NS EA NA WA CSA 2149
    rs1501053071,2
    C--154506057(+) TCAAAA/GATTAT 2 -- ut310--------

    HapMap Linkage Disequilibrium report for CLIC2 (154505500 - 154563986 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for CLIC2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508817CNV Insertion20534489
    esv273048CNV Insertion20981092
    esv26400CNV Loss19812545
    esv29972CNV Gain17803354
    esv33784CNV Gain+Loss17666407

    Human Gene Mutation Database (HGMD): CLIC2
    Locus Specific Mutation Databases (LSDB): CLIC2

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing CLIC2
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300138   
    OMIM disorders: 300886  
    UniProtKB/Swiss-Prot: CLIC2_HUMAN, O15247
  • Mental retardation, X-linked, syndromic, 32 (MRXS32) [MIM:300886]: A mental retardation syndrome
    characterized by profound intellectual deficit, delayed psychomotor development beginning in infancy and little
    or no speech development. Additional features include seizures, large joint contractures, and abnormal
    positioning of the thumbs. Mental retardation is defined by significantly below average general intellectual
    functioning associated with impairments in adaptive behavior and manifested during the developmental period.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 1 disease for CLIC2:    
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    mental retardation, x-linked, syndromic 32


    Find genes that share disorders with CLIC2           About GenesLikeMe


    Export disorders for CLIC2 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)
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    PubMed articles for CLIC2 gene, integrated from 10 sources (see all 32):
    (articles sorted by number of sources associating them with CLIC2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic structure of a novel chloride channel gene, CLIC2, in Xq28. (PubMed id 9339381)1, 2, 3, 9 Heiss N.S. and Poustka A. (Genomics 1997)
    2. CLIC-2 modulates cardiac ryanodine receptor Ca2+ release channels. (PubMed id 15147738)1, 2, 9 Board P.G.... Dulhunty A.F. (Int. J. Biochem. Cell Biol. 2004)
    3. A recently identified member of the glutathione transferase structural family modifies cardiac RyR2 substate activity, coupled gating and activation by Ca2+ and ATP. (PubMed id 15916532)1, 2, 9 Dulhunty A.F.... Board P.G. (Biochem. J. 2005)
    4. An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity. (PubMed id 22814392)1, 2 Takano K....Dulhunty A.F. (Hum. Mol. Genet. 2012)
    5. The crystal structure of human chloride intracellular channel protein 2: a disulfide bond with functional implications. (PubMed id 18186468)1, 2 Mi W.... Su X.-D. (Proteins 2008)
    6. Structure of the Janus protein human CLIC2. (PubMed id 17945253)1, 2 Cromer B.A.... Parker M.W. (J. Mol. Biol. 2007)
    7. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 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. (Genome Res. 2004)
    9. Interaction of sedlin with chloride intracellular channel proteins. (PubMed id 12681486)1, 2 Fan L.... Zhu X. (FEBS Lett. 2003)
    10. Expression, purification, crystallization and preliminary X-ray diffraction analysis of chloride intracellular channel 2 (CLIC2). (PubMed id 18007051)1, 9 Cromer B.A....Parker M.W. (Acta Crystallogr. Sect. F Struct. Biol. Cryst. Commun. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 1193 HGNC: 2063 AceView: CLIC2 Ensembl:ENSG00000155962 euGenes: HUgn1193
    ECgene: CLIC2 H-InvDB: CLIC2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CLIC2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CLIC2 gene:
    Search GeneIP for patents involving CLIC2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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