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FLASH GENE
Symbol TELO2 contributors: mct - updated : 25-05-2016
HGNC name TEL2, telomere maintenance 2, homolog (S. cerevisiae)
HGNC id 29099
Corresponding disease
MMRAV microcephaly, mental retardation, and abnormal auditory and visual function
Location 16p13.3      Physical location : 1.543.351 - 1.560.459
Synonym name
  • cDNA sequence, expressed in brain, 74kDa
  • TEL2 homolog
  • Synonym symbol(s) KIAA0683, hCLK2, c305C8.3, FLJ10924, DKFZp434A073, CLK2, TEL2
    DNA
    TYPE functioning gene
    STRUCTURE 17.12 kb     21 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    21 - 3338 - 837 - 2007 18160036
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Nervousbrain   highly
    Reproductivefemale systemovary  highly
     male systemtestis  highly
    Respiratorylung   highly
    Urinarykidney   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    secondary structure
  • HEAT-like helical repeats that assemble into two separate alpha-solenoids
  • HOMOLOGY
    interspecies ortholog to S. cerevisiae Tel2
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,nucleus
    basic FUNCTION
  • TTI1 and TELO2 are important not only for MTOR stability but also for assembly of the MTOR complexes to maintain their activities
  • acts with HSP90AA1 in the maturation of PIKK complexes
  • acts as a scaffold to coordinate the activities of R2TP/prefoldin-like and HSP90 chaperone complexes during the assembly of the phosphatidylinositol 3-kinase-related kinases (PIKKs)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • TTI1 and TTI2 exist in multiple complexes, including a 2-MDa complex with TELO2, called the Triple T complex, and phosphoinositide-3-kinase-related protein kinases (PIKKs) such as ataxia telangiectasia-mutated (ATM)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • SMG1 associated with TELO2 and TELO2 is a highly conserved regulator of PIKK stability
  • TTI1 binds to TELO2 in mammalian cells, and interacts with and stabilizes all six members of the PIKK family of proteins (MTOR, ATM, ATR, DNA-PKcs, SMG1, and TRRAP)
  • TELO2-TTI1-TTI2 complex is a PIKK-specific cochaperone for HSP90AA1
  • DNA-PKcs and ATM are stabilized by the TTT (TELO2, TTI1, TTI2) cochaperone family, whose actions are mediated by CSNK2A1 phosphorylation
  • cell & other
    REGULATION
    Phosphorylated by constitutively phosphorylated on conserved serines 487 and 491 by casein kinase 2 (CSNK2A2)
    ASSOCIATED DISORDERS
    corresponding disease(s) MMRAV
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • homozygosity for a Telo2 knockout allele in mice produces embryonic lethality and S phase cell-cycle arrest in mouse embryonic fibroblasts (MEFs)