Aliases for EXOSC2 Gene
External Ids for EXOSC2 Gene
Previous GeneCards Identifiers for EXOSC2 Gene
GeneCards Summary for EXOSC2 Gene
EXOSC2 (Exosome Component 2) is a Protein Coding gene. Diseases associated with EXOSC2 include Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies and Pontocerebellar Hypoplasia, Type 1B. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and ATP/ITP metabolism. Gene Ontology (GO) annotations related to this gene include RNA binding and exoribonuclease activity. An important paralog of this gene is EXOSC3.
UniProtKB/Swiss-Prot Summary for EXOSC2 Gene
Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes. EXOSC2 as peripheral part of the Exo-9 complex stabilizes the hexameric ring of RNase PH-domain subunits through contacts with EXOSC4 and EXOSC7.