EXOSC2

EXOSC2 (Exosome Component 2) is a Protein Coding gene. Diseases associated with EXOSC2 include Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies and Retinitis Pigmentosa. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Gene Expression. Gene Ontology (GO) annotations related to this gene include RNA binding and exoribonuclease activity.

Exosome Component 2

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.

CUT catabolic process Source: GO_Central
Exonucleolytic catabolism of deadenylated mRNA Source: GO_Central
Exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) Source: GO_Central
Nuclear polyadenylation-dependent rRNA catabolic process Source: GO_Central
Nuclear polyadenylation-dependent tRNA catabolic process Source: GO_Central
Nuclear retention of pre-mRNA with aberrant 3'-ends at the site of transcription Source: GO_Central
Nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5' Source: GO_Central
Polyadenylation-dependent snoRNA 3'-end processing Source: GO_Central
Positive regulation of cell growth Source: UniProtKB
rRNA processing Source: ProtInc
U4 snRNA 3'-end processing Source: GO_Central

Nucleolus; Nucleus; Cytoplasm

Short stature, hearing loss, retinitis pigmentosa, and distinctive facies (SHRF):
An autosomal recessive disorder characterized by childhood myopia, early onset retinitis pigmentosa, progressive sensorineural hearing loss, hypothyroidism, short stature, brachydactyly, recognisable facial gestalt, premature ageing and mild intellectual disability.