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FLASH GENE
Symbol UPF2 contributors: mct - updated : 03-10-2017
HGNC name UPF2 regulator of nonsense transcripts homolog (yeast)
HGNC id 17854
Location 10p14      Physical location : 11.962.021 - 12.085.023
Synonym name
  • yeast Upf2p homolog
  • regulator of nonsense transcripts 2
  • nonsense mRNA reducing factor 2
  • smg-3 homolog, nonsense mediated mRNA decay factor
  • Synonym symbol(s) HUPF2, RENT2, KIAA1408, DKFZp434D222, MGC138834, MGC138835, smg-3
    DNA
    TYPE functioning gene
    STRUCTURE 123.15 kb     22 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC389937 10 similar to heat shock protein 90 beta LOC389938 10 similar to SI:dZ211O13.2 (novel protein) CUGBP2 10p13-p14 CUG triplet repeat, RNA binding protein 2 USP6NL 10p13 USP6 N-terminal like ECHDC3 10p14 enoyl Coenzyme A hydratase domain containing 3 C10orf47 10p14 chromosome 10 open reading frame 47 UPF2 10p14-p13 UPF2 regulator of nonsense transcripts homolog (yeast) DHTKD1 10p14 dehydrogenase E1 and transketolase domain containing 1 SEC61A2 10p14 dehydrogenase E1 and transketolase domain containing 1 NUDT5 10p14-p13 nudix (nucleoside diphosphate linked moiety X)-type motif 5 C10orf7 10p13 chromosome 10 open reading frame 7 CAMK1D 10p13 calcium/calmodulin-dependent protein kinase ID DKFZP761F241 10p14 hypothetical protein DKFZp761F241 LOC389939 10 similar to ribosomal protein L5 OPTN 10p14 optineurin MCM10 10p13 MCM10 minichromosome maintenance deficient 10 (S. cerevisiae) LOC221044 10p14 hypothetical protein BC018068 PHYH 10p15-p14 phytanoyl-CoA hydroxylase (Refsum disease) SEPHS1 10p14 selenophosphate synthetase 1 C10orf30 10p14 chromosome 10 open reading frame 30 PRPF18 10p12.33 PRP18 pre-mRNA processing factor 18 homolog (yeast) FLJ10210
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    22 splicing 5217 147.8 1272 - 2001 11113196
    variant 1 shorter form
    22 splicing 5387 147.8 1272 - 2001 11113196
    long isoform
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon  
    Lymphoid/Immunespleen    
    Nervousbrain    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a glu/lys rich domain
  • three tandem MIF4G domains
  • two coiled-coil domains
  • a gly rich domain
  • C-terminal region of UPF2 is natively unfolded but binds through separated alpha-helical and beta-hairpin elements to the UPF1 CH-domain , a C-terminal UPF1 binding region
  • HOMOLOGY
    interspecies homolog to murine Upf2
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    text
  • perinuclear area
  • predominantly localizes to the cytoplasmic fraction, and binds to the exon junction complex (EJC) on spliced mRNA
  • also in the nucleoplasm and the cytoplasm, and it appeared to be involved in the construction of the mRNA complex
  • basic FUNCTION
  • involved in mRNA catabolism, nonsense-mediated decay
  • UPF1 and UPF2 assemble on polysomes for recognition of aberrant mRNAs containing premature termination codons
  • critical regulator of liver development, function and regeneration
  • essential role of UPF2-mediated NMD in prepubertal Sertoli cells (SC) development and male fertility
  • role of UPF2 as a platform for the transient interactions of several NMD factors, including several components of SURF
  • UPF2-mediated nonsense-mediated mRNA decay (NMD) plays an essential role in male germ cells by eliminating ubiquitous genes-derived, longer 3'UTR transcripts
  • UPF2 combines with exon junction complex (EJC) in both the cytoplasmic and the intranuclear fractions, and it is involved in mRNA metabolism in human cell
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of a post-splicing multiproteins complex involved in both mRNA export and mRNA surveillance
  • INTERACTION
    DNA
    RNA binding
    small molecule
    protein
  • interacting with translation release factors
  • interacting with DCP2, UPF3B, UPF3A, EIF4A1, SUI1
  • in the UPF trimeric complex, UPF2 and UPF3B cooperatively stimulate both ATPase and RNA helicase activities of UPF1
  • interacting with UPF1 (the regulatory CH domain of UPF1 undergoes a large conformational change, causing the catalytic helicase domain to bind RNA less extensively and triggering its helicase activity)
  • SMG1C (a complex containing SMG1, SMG8, and SMG9) contributes to regulate NMD by recruiting UPF1 and UPF2 to distinct sites in the vicinity of the kinase domain
  • ability of UPF1 to impinge on premature termination, moreover, requires ATP-binding, RNA-binding and NMD cofactors UPF2 and UPF3A, UPF3B
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • ablation of Upf2, which encodes a core NMD factor, in murine embryonic Sertoli cells (SCs) leads to severe testicular atrophy and male sterility owing to rapid depletion of both SCs and germ cells during prepubertal testicular development