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FLASH GENE
Symbol CLIC2 contributors: mct - updated : 10-10-2017
HGNC name chloride intracellular channel 2
HGNC id 2063
Corresponding disease
MRXS32 mental retardation, syndromic 32
Location Xq28      Physical location : 154.505.501 - 154.563.986
Genatlas name chloride intracellular channel like
Synonym symbol(s) XAP121, CLICL, CLIC2b, MRXS32
DNA
TYPE functioning gene
STRUCTURE 58.50 kb     8 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
Physical map
FAM3A Xq28 family with sequence similarity 3, member A G6PD Xq28 glucose-6-phosphate dehydrogenase IKBKG Xq28 inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma SPCX Xq28 SPCX LAGE2A  cancer/testis antigen 1-A CTAG1 Xq28 cancer/testis antigen 1 LOC340600 Xq28 cyclic-AMP-dependent transcription factor ATF-4 pseudogene deltaNEMO Xq28 deltaNEMO CTAG2 Xq28 cancer/testis antigen 2 LOC392561 X similar to olfactory receptor MOR255-2 GAB3 Xq28 GRB2-associated binding protein 3 DKC1 Xq28 dyskeratosis congenita 1, dyskerin MPP1 Xq28 membrane protein, palmitoylated 1, 55kDa LOC158957 Xq28 hypothetical LOC158957 F8 Xq28 coagulation factor VIII, procoagulant component (hemophilia A) HCBP6 Xq28 hepatitis C virus core-binding protein 6 MTCP1 Xq28 mature T-cell proliferation 1 C6.1A Xq28 c6.1A VBP1 Xq28 von Hippel-Lindau binding protein 1 RAB39B Xq28 RAB39B, member RAS oncogene family CLIC2 Xq28 chloride intracellular channel 2 PHF10P1 Xq28 PHD finger protein 10 pseudogene 1 F8A Xq28 coagulation factor VIII-associated (intronic transcript) H2AFB Xq28 H2A histone family, member B TMLHE Xq28 trimethyllysine hydroxylase, epsilon SPRY3 Xq28 sprouty homolog 3 (Drosophila) AMDP1 Xq22-q28 S-adenosylmethionine decarboxylase pseudogene 1 SYBL1 Xq28 synaptobrevin-like 1
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 2702 - 247 - 2007 1794525
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal highly Homo sapiens
Muscularstriatumskeletal highly Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text liver
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four beta strand
  • glutathione S-transferase domain
  • thioredoxin-like domains
  • a glutathione binding site where glutathione can form a disulfide bond with a conserved active site cysteine residue positioned near the N-terminal end of helix 1
  • CXXC active site motif conserved between CLIC2 and the glutaredoxins
  • an intramolecular disulfide and the protein remains monomeric irrespective of redox conditions
  • an extended loop region from the C-terminal domain, called the foot loop, inserting itself into an interdomain crevice of a neighboring molecule
  • mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to C.elegans f26h11.5
    intraspecies homolog to CLIC1
    Homologene
    FAMILY p64 family (chloride channel)
    CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • regulating fundamental cellular processes including stabilization of cell membrane
  • may be having a function to limit Ca2+ release from internal stores in cells
  • functions as an intrinsic stabilizer of the closed state of RYR channels
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component homodimerizing to form a potential pore
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • might potentially recognize other proteins such as the ryanodine receptor through a similar interaction
  • can interact with RYR1 and modulate its channel activity
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRXS32
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS