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Details on Person UniProt:Q13868 EXOSC2

Class:Id	ReferenceGeneProduct:72259
_chainChangeLog	chain:1-293 added on Fri February 6 2015
_displayName	UniProt:Q13868 EXOSC2
_timestamp	2025-02-21 19:58:55
chain	chain:1-293
checksum	882033F50791643F
comment	FUNCTION 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.SUBUNIT Component of the RNA exosome core complex (Exo-9), composed of EXOSC1, EXOSC2, EXOSC3, EXOSC4, EXOSC5, EXOSC6, EXOSC7, EXOSC8 and EXOSC9; within the complex interacts with EXOSC4 and EXOSC7 (PubMed:29906447, PubMed:30047866). The catalytically inactive RNA exosome core complex (Exo-9) associates with the catalytic subunit EXOSC10/RRP6 (PubMed:11719186, PubMed:20531389, PubMed:29906447). Exo-9 may associate with DIS3 to form the nucleolar exosome complex, or DIS3L to form the cytoplasmic exosome complex (PubMed:11719186, PubMed:20531389, PubMed:29906447). Exo-9 is formed by a hexameric base ring consisting of the heterodimers EXOSC4-EXOSC9, EXOSC5-EXOSC8 and EXOSC6-EXOSC7, and a cap ring consisting of EXOSC1, EXOSC2 and EXOSC3 (PubMed:11719186, PubMed:20531389, PubMed:30047866). The RNA exosome complex associates with cofactors C1D/RRP47, MPHOSPH6/MPP6 and MTREX/MTR4 (PubMed:30047866). Interacts with GTPBP1 (PubMed:21515746). Interacts with ZFP36L1 (via N-terminus) (PubMed:15687258).INTERACTION The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the RRP4 family.
description	recommendedName: fullName evidence="11"Exosome complex component RRP4 alternativeName: Exosome component 2 alternativeName: Ribosomal RNA-processing protein 4
geneName	EXOSC2 RRP4
identifier	Q13868
isSequenceChanged	FALSE
keyword	3D-structure Alternative splicing Cytoplasm Deafness Disease variant Dwarfism Exosome Nucleus Phosphoprotein Proteomics identification Reference proteome Retinitis pigmentosa RNA-binding rRNA processing
modified	[InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21
name	EXOSC2
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:8996555] ENSEMBL:ENSG00000130713 EXOSC2 [Homo sapiens]
secondaryIdentifier	EXOS2_HUMAN A3KFL3 A3KFL4 B4DKK6 Q9NUY4
sequenceLength	293
species	[Species:48887] Homo sapiens
(isoformParent)	[ReferenceIsoform:8966983] UniProt:Q13868-1 EXOSC2 [Homo sapiens] [ReferenceIsoform:8966984] UniProt:Q13868-2 EXOSC2 [Homo sapiens] [ReferenceIsoform:8966985] UniProt:Q13868-3 EXOSC2 [Homo sapiens]
(referenceEntity)	[EntityWithAccessionedSequence:429999] EXOSC2 [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:6791582] EXOSC2 [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9935794] EXOSC2 [nucleolus] [Homo sapiens]
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No pathways have been reviewed or authored by UniProt:Q13868 EXOSC2 (72259)