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FLASH GENE
Symbol NSUN2 contributors: mct/npt/pgu - updated : 09-05-2012
HGNC name NOL1/NOP2/Sun domain family, member 2
HGNC id 25994
Corresponding disease
NSMR6 nonsyndromic mental retardation 6
Location 5p15.31      Physical location : 6.599.354 - 6.633.473
Synonym name
  • NOL1/NOP2/Sun domain family 2
  • Myc-induced SUN-domain-containing protein
  • substrate of AIM1/Aurora kinase B
  • tRNA methyltransferase 4 homolog
  • tRNA (cytosine-5-)-methyltransferase
  • Synonym symbol(s) FLJ20303, MISU, SAKI, TRM4
    EC.number 2.1.1.29/ 2.1.1.203
    DNA
    TYPE functioning gene
    STRUCTURE 33.81 kb     19 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 - 3389 86.34 767 - 2007 17215513
    18 - 3284 - 732 - 2007 17215513
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period
    cell cycle     cell cycle, S
    Text expression is highest in S phase
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an NOL1/NOP2/sun domain
  • HOMOLOGY
    interspecies ortholog to S.Cerevisiae tRNA:m5C methyltransferase
    Homologene
    FAMILY
  • SUN-domain-containing proteins family
  • methyltransferase superfamily
  • RsmB/NOP family
  • TRM4 subfamily
  • CATEGORY enzyme , secretory , RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    intracellular,nucleus,nucleolus
    text
  • concentrated in the nucleolus during interphase and distributed in the perichromosome and cytoplasm during mitosis
  • found in cytoplasmic vesicles, and it decorates the spindle in mitosis
  • translocates from the nucleoli in interphase to the spindle in mitosis as an RNA-protein complex that includes 18S ribosomal RNA
  • basic FUNCTION
  • RNA methyltransferase catalysing intron-dependent m5C formation in the first position of the anticodon of the pre-tRNA Leu (CAA)
  • nucleolar RNA methyltransferase important for MYC-induced proliferation in skin
  • RNA methyltransferase required to balance stem cell self-renewal and differentiation in skin
  • essential for elevating CDKN2A expression levels, and NSUN2-mediated methylation of the CDKN2A 3primeUTR is a novel mechanism to stabilize CDKN2A mRNA
  • implicated in the development of higher cognitive functions
  • catalyzes formation of 5-methylcytosine at C34 of tRNA-leu(CAA) and plays a role in spindle assembly during mitosis as well as chromosome segregation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • novel substrate of Aurora-B (AURKB)
  • associating with nucleolar proteins NPM1/nucleophosmin/B23 and nucleolin/C23 during interphase
  • direct target gene of Myc (downstream Myc target that methylates RNA polymerase III transcripts and mediates Myc-induced cell proliferation and growth)
  • might mediate its function at the spindle by recruiting nucleolar and spindle-associated protein (NUSAP1), an essential microtubule-stabilizing and bundling protein
  • cell & other
    REGULATION
    Other regulated by Aurora-B, a newly developed molecular target for cancer therapy
    ASSOCIATED DISORDERS
    corresponding disease(s) NSMR6
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in several cancers
    tumoral     --over  
    in a substantial proportion of breast cancers
    tumoral     --over  
    in oral and colorectal cancers
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductivebreast
    has therapeutic potential as a drug target in breast cancer
    cancer  
    might become a valuable target for cancer therapy and a cancer diagnostic marker
    ANIMAL & CELL MODELS
  • loss of the Drosophila NSUN2 ortholog, causes a short-term-memory deficit