GenTIGSA Gene Database on Rare Genetic Disorders

Exosome component 2 (EXOSC2) Associated conditions:  1. Retinitis pigmentosa 
mRNA Information: Transcript Variants and Protein Isoforms
SNo. Status mRNA accession Protein accession Genomic DNA accession (Chromosome) mRNA location on genomic DNA Assembly UniProtkb ID

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)
Link 1150 reference articles

Variant Information Exosome component 2 (EXOSC2Mutation Visualization Dashboard: Pathogenic variant distribution chart
ClinVar variants:Revealing mutagenic patterns

GO Term of Exosome component 2 (EXOSC2)
SNo. Reported in speceis Evidence Qualifier GO term Category Pubmed Link
1Homo sapiensTASenables3'-5'-RNA exonuclease activityFunction8600032 
2Homo sapiensIBApart_ofnuclear exosome (RNase complex)Component
3Homo sapiensIDApart_ofnuclear exosome (RNase complex)Component26166824 
4Homo sapiensIBApart_ofcytoplasmic exosome (RNase complex)Component
5Homo sapiensIDApart_ofexosome (RNase complex)Component12419256 20531389 
6Homo sapiensIEApart_ofexosome (RNase complex)Component
7Homo sapiensIBAinvolved_inexonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)Process
8Homo sapiensIBAinvolved_innuclear-transcribed mRNA catabolic processProcess
9Homo sapiensIBAenablesRNA bindingFunction
10Homo sapiensIEAenablesRNA bindingFunction
11Homo sapiensIDANOT enablesRNA exonuclease activityFunction17174896 
12Homo sapiensIPIenablesprotein bindingFunction11719186 12419256 12788944 
15231747 15687258 16396833 
17412707 17545563 18326031 
20531386 20531389 21255825 
24981860 26496610 28514442 
32296183 33961781 40205054 
13Homo sapiensIDAlocated_innucleusComponent17545563 20531386 
14Homo sapiensIEAlocated_innucleusComponent
15Homo sapiensTASlocated_innucleusComponent8600032 
16Homo sapiensIDAlocated_innucleoplasmComponent
17Homo sapiensTASlocated_innucleoplasmComponent
18Homo sapiensIDAlocated_innucleolusComponent20531386 
19Homo sapiensIEAlocated_innucleolusComponent
20Homo sapiensTASlocated_innucleolusComponent
21Homo sapiensIDAlocated_incytoplasmComponent17545563 
22Homo sapiensIEAlocated_incytoplasmComponent
23Homo sapiensTASlocated_incytoplasmComponent8600032 
24Homo sapiensIDAlocated_incytosolComponent20531386 
25Homo sapiensTASlocated_incytosolComponent
26Homo sapiensIEAinvolved_inrRNA processingProcess
27Homo sapiensTASinvolved_inrRNA processingProcess8600032 
28Homo sapiensIDAinvolved_inRNA processingProcess17174896 20531386 
29Homo sapiensIDAinvolved_inRNA catabolic processProcess17174896 20531386 
30Homo sapiensTASenables7S RNA bindingFunction8600032 
31Homo sapiensIMPinvolved_inpositive regulation of cell growthProcess17545563 
32Homo sapiensIBAinvolved_inU4 snRNA 3'-end processingProcess
33Homo sapiensIBAinvolved_inCUT catabolic processProcess
34Homo sapiensIBAinvolved_innuclear polyadenylation-dependent rRNA catabolic processProcess
35Homo sapiensIBAinvolved_inTRAMP-dependent tRNA surveillance pathwayProcess
36Homo sapiensIBAinvolved_inpoly(A)-dependent snoRNA 3'-end processingProcess